DDB1
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Summary
DDB1 (damage specific DNA binding protein 1, HGNC:2717) is a protein-coding gene on chromosome 11q12.2, encoding DNA damage-binding protein 1 (Q16531). Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins.
Source: NCBI Gene 1642 — RefSeq curated summary.
At a glance
- Gene–disease (curated): White-Kernohan syndrome (Strong, GenCC)
- Clinical variants (ClinVar): 238 total — 3 pathogenic, 3 likely-pathogenic
- Regional missense constraint (gnomAD): 3 of 7 regions constrained (≈19% of expected missense variation)
- GTEx eGene: eQTL in 6 tissues, sQTL in 1 (q < 0.05)
- Phenotypes (HPO): 49
- Drug target: yes — 4 via a complex or family; 7 molecules with ChEMBL bioactivity
- Approved drugs acting on a complex or family including it: 3 — Lenalidomide, Pomalidomide, Thalidomide (CRL4(CRBN) E3 ubiquitin ligase)
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.20 (highly constrained)
- MANE Select transcript:
NM_001923 - Interaction hub: 3,439 STRING partners (top 2% of genes corpus-wide)
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2717 |
| Approved symbol | DDB1 |
| Name | damage specific DNA binding protein 1 |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000167986 |
| Ensembl biotype | protein_coding |
| OMIM | 600045 |
| Entrez | 1642 |
Gene structure
Transcript identifiers
Ensembl transcripts: 86 — 39 protein_coding, 27 retained_intron, 18 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
MANE Select: ENST00000301764
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 13, TSL 3: 6, TSL 4: 3, TSL 5: 1
ENST00000301764, ENST00000414411, ENST00000451943, ENST00000535147, ENST00000535174, ENST00000535283, ENST00000535967, ENST00000537120, ENST00000537877, ENST00000538129, ENST00000538280, ENST00000538470, ENST00000539332, ENST00000539426, ENST00000539712, ENST00000539739, ENST00000540166, ENST00000540784, ENST00000541513, ENST00000542337, ENST00000543162, ENST00000543658, ENST00000545894, ENST00000545930, ENST00000679588, ENST00000679712, ENST00000679855, ENST00000680075, ENST00000680096, ENST00000680250, ENST00000680345, ENST00000680357, ENST00000680367, ENST00000680452, ENST00000680602, ENST00000680717, ENST00000680881, ENST00000680959, ENST00000681067, ENST00000681188, ENST00000681368, ENST00000681580, ENST00000681803, ENST00000681815, ENST00000681935, ENST00000867657, ENST00000867658, ENST00000867659, ENST00000867660, ENST00000920436, ENST00000920437, ENST00000920438, ENST00000920439, ENST00000920440, ENST00000920441, ENST00000920442, ENST00000920443, ENST00000920444, ENST00000920445, ENST00000920446, ENST00000954149, ENST00000954150, ENST00000954151, ENST00000954152, ENST00000954153, ENST00000954155, ENST00000954156, ENST00000954157, ENST00000954158, ENST00001007530, ENST00001007531, ENST00001007532, ENST00001027365, ENST00001027368, ENST00001027373, ENST00001027375, ENST00001027378, ENST00001027381, ENST00001081238, ENST00001081241, ENST00001081243, ENST00001081244, ENST00001081245, ENST00001081246, ENST00001107332, ENST00001142230
RefSeq mRNA: 1 — MANE Select: NM_001923
NM_001923
CCDS: CCDS31576
Canonical transcript exons
ENST00000301764 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001063027 | 61313862 | 61313969 |
| ENSE00001063028 | 61313499 | 61313706 |
| ENSE00001063041 | 61308983 | 61309077 |
| ENSE00001063044 | 61310295 | 61310418 |
| ENSE00001145090 | 61303046 | 61303155 |
| ENSE00001145096 | 61303865 | 61304035 |
| ENSE00001145124 | 61311989 | 61312084 |
| ENSE00001198074 | 61302582 | 61302751 |
| ENSE00001198106 | 61311784 | 61311895 |
| ENSE00001506452 | 61300809 | 61300932 |
| ENSE00001506453 | 61302257 | 61302359 |
| ENSE00001766096 | 61332908 | 61333105 |
| ENSE00002321622 | 61299451 | 61300219 |
| ENSE00003458891 | 61321595 | 61321697 |
| ENSE00003487770 | 61323011 | 61323094 |
| ENSE00003488555 | 61329958 | 61330074 |
| ENSE00003490913 | 61322296 | 61322412 |
| ENSE00003494536 | 61314308 | 61314486 |
| ENSE00003557995 | 61325611 | 61325708 |
| ENSE00003588869 | 61309796 | 61309960 |
| ENSE00003593046 | 61323979 | 61324137 |
| ENSE00003611361 | 61331543 | 61331691 |
| ENSE00003642261 | 61314047 | 61314210 |
| ENSE00003642698 | 61316285 | 61316393 |
| ENSE00003656067 | 61316492 | 61316567 |
| ENSE00003691599 | 61329363 | 61329584 |
| ENSE00003789035 | 61326779 | 61326893 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 112.7839 / max 678.6344, expressed in 1827 samples.
Highest expression (Bgee): adrenal gland, adrenal gland cortex, adrenal tissue, adrenal cortex, ventricular zone.
Genetic regulation across tissues (GTEx eQTL / sQTL)
DDB1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 6 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
7 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 9.6e-07 | +0.18 | 11:61318027:T:C |
| Brain Frontal Cortex BA9 | eqtl | 8.4e-03 | +0.12 | 11:61008834:C:T |
| Adipose Subcutaneous | eqtl | 1.2e-02 | -0.08 | 11:61202856:A:G |
| Stomach | eqtl | 1.8e-02 | -0.41 | 11:60772207:T:C |
| Adipose Visceral Omentum | sqtl | 2.7e-02 | -1.23 | 11:61627652:G:A |
| Whole Blood | eqtl | 2.9e-02 | -0.32 | 11:61109118:C:T |
| Cells Cultured fibroblasts | eqtl | 4.7e-02 | -0.31 | 11:60843876:T:G |
FANTOM5 promoters
7 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119972 | 111.2117 | 1827 |
| 119966 | 0.5242 | 313 |
| 119965 | 0.4178 | 224 |
| 119973 | 0.3622 | 186 |
| 119975 | 0.1839 | 83 |
| 119974 | 0.0444 | 9 |
| 119964 | 0.0396 | 14 |
Top tissues by expression
showing 100 of 300 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 99.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.13 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.12 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.99 | gold quality |
| adrenal gland | UBERON:0002369 | 98.97 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.94 | gold quality |
| ventricular zone | UBERON:0003053 | 98.52 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.14 | gold quality |
| right testis | UBERON:0004534 | 98.13 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.12 | gold quality |
| left testis | UBERON:0004533 | 98.08 | gold quality |
| right uterine tube | UBERON:0001302 | 98.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.95 | gold quality |
| right ovary | UBERON:0002118 | 97.82 | gold quality |
| skin of leg | UBERON:0001511 | 97.73 | gold quality |
| left ovary | UBERON:0002119 | 97.70 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.61 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.60 | gold quality |
| apex of heart | UBERON:0002098 | 97.60 | gold quality |
| endometrium epithelium | UBERON:0004811 | 97.53 | gold quality |
| muscle of leg | UBERON:0001383 | 97.51 | gold quality |
| pituitary gland | UBERON:0000007 | 97.50 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.29 | gold quality |
| cortical plate | UBERON:0005343 | 97.24 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.19 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.16 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.99 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.98 | gold quality |
| peripheral nervous system | UBERON:0000010 | 96.97 | gold quality |
| nerve | UBERON:0001021 | 96.97 | gold quality |
| left uterine tube | UBERON:0001303 | 96.97 | gold quality |
| tibial nerve | UBERON:0001323 | 96.97 | gold quality |
| placenta | UBERON:0001987 | 96.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 96.91 | gold quality |
| testis | UBERON:0000473 | 96.89 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.86 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.82 | gold quality |
| body of stomach | UBERON:0001161 | 96.81 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.80 | gold quality |
| lower esophagus | UBERON:0013473 | 96.79 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.79 | gold quality |
| body of uterus | UBERON:0009853 | 96.78 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.77 | gold quality |
| ectocervix | UBERON:0012249 | 96.77 | gold quality |
| zone of skin | UBERON:0000014 | 96.76 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.75 | gold quality |
| embryo | UBERON:0000922 | 96.72 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.68 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.60 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.60 | gold quality |
| endocervix | UBERON:0000458 | 96.59 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.59 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.58 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.52 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.49 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.48 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.43 | gold quality |
| thyroid gland | UBERON:0002046 | 96.43 | gold quality |
| stomach | UBERON:0000945 | 96.41 | gold quality |
| muscle organ | UBERON:0001630 | 96.33 | gold quality |
| tibial artery | UBERON:0007610 | 96.33 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 96.33 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.32 | silver quality |
| popliteal artery | UBERON:0002250 | 96.32 | gold quality |
| transverse colon | UBERON:0001157 | 96.26 | gold quality |
| aorta | UBERON:0000947 | 96.24 | gold quality |
| ascending aorta | UBERON:0001496 | 96.24 | gold quality |
| body of pancreas | UBERON:0001150 | 96.23 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.23 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.23 | gold quality |
| esophagus | UBERON:0001043 | 96.22 | gold quality |
| amygdala | UBERON:0001876 | 96.21 | gold quality |
| rectum | UBERON:0001052 | 96.16 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.15 | gold quality |
| hypothalamus | UBERON:0001898 | 96.13 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.13 | gold quality |
| pancreas | UBERON:0001264 | 96.08 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.05 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.01 | gold quality |
| right coronary artery | UBERON:0001625 | 95.99 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.98 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.95 | gold quality |
| left coronary artery | UBERON:0001626 | 95.95 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.94 | gold quality |
| small intestine | UBERON:0002108 | 95.92 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.90 | gold quality |
| heart | UBERON:0000948 | 95.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.88 | gold quality |
| omental fat pad | UBERON:0010414 | 95.85 | gold quality |
| peritoneum | UBERON:0002358 | 95.84 | gold quality |
| cerebellum | UBERON:0002037 | 95.81 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.78 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.72 | gold quality |
| spleen | UBERON:0002106 | 95.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.67 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 836.64 |
| E-MTAB-6701 | yes | 113.81 |
| E-GEOD-137537 | yes | 16.84 |
| E-MTAB-9689 | no | 282.70 |
| E-MTAB-7316 | no | 33.62 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 80 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Parathyroid gland | tissue | 218.5 | high |
| Retina | tissue | 150.8 | |
| Adrenal gland | tissue | 144.2 | high |
| Caudate putamen | tissue | 139.5 | |
| Frontal cortex | tissue | 126.2 | |
| Placenta | tissue | 121.9 | low |
| Tongue | tissue | 116.9 | |
| Skeletal muscle | tissue | 112.3 | medium |
| Choroid plexus | tissue | 100.6 | |
| Thalamus | tissue | 82.7 | |
| Spinal cord | tissue | 82.7 | |
| Locus coeruleus | tissue | 80.5 | |
| Pons | tissue | 79.2 | |
| Midbrain | tissue | 78.7 | |
| Superior colliculi | tissue | 78.0 | |
| Substantia nigra | tissue | 77.1 | |
| Ovary | tissue | 76.4 | high |
| Thymus | tissue | 75.7 | |
| Epididymis | tissue | 75.3 | low |
| Medulla oblongata | tissue | 74.9 | |
| Fallopian tube | tissue | 73.7 | medium |
| Hippocampal formation | tissue | 73.4 | |
| Cerebral cortex | tissue | 69.6 | high |
| Somatosensory cortex | tissue | 69.6 | |
| Hypothalamus | tissue | 67.1 | |
| Seminal vesicle | tissue | 66.9 | high |
| Corpus callosum | tissue | 65.4 | |
| Putamen | tissue | 65.3 | |
| Prefrontal cortex | tissue | 65.2 | |
| Hippocampus | tissue | 65.1 | high |
| Motor cortex | tissue | 65.0 | |
| Testis | tissue | 64.7 | medium |
| Postcentral gyrus | tissue | 62.6 | |
| Tonsil | tissue | 62.4 | medium |
| Occipital cortex | tissue | 62.2 | |
| Ventral forebrain | tissue | 61.8 | |
| Periaqueductal gray | tissue | 61.2 | |
| Septum | tissue | 61.1 | |
| Heart muscle | tissue | 60.9 | high |
| Basal ganglia | tissue | 60.8 | high |
| Thyroid gland | tissue | 60.8 | low |
| Kidney | tissue | 60.5 | high |
| Nucleus accumbens | tissue | 59.8 | |
| Retrosplenial and cingulate cortex | tissue | 59.0 | |
| Entorhinal cortex | tissue | 58.7 | |
| Retrosplenial cortex | tissue | 57.9 | |
| Smooth muscle | tissue | 57.8 | not detected |
| Cervix | tissue | 57.7 | medium |
| Skin 1 | tissue | 57.4 | medium |
| Temporal cortex | tissue | 57.0 | |
| Breast | tissue | 55.3 | high |
| Urinary bladder | tissue | 54.8 | medium |
| Insular cortex | tissue | 54.6 | |
| Olfactory bulb | tissue | 53.5 | |
| Prostate | tissue | 53.1 | medium |
| Cerebellum | tissue | 52.5 | high |
| Liver | tissue | 52.3 | medium |
| Salivary gland | tissue | 51.0 | medium |
| Amygdala | tissue | 50.1 | |
| Duodenum | tissue | 50.0 | medium |
Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Superior vestibular nucleus (89.6), Arcuate nucleus (87.0), Supraoptic nucleus (84.6), Dorsal funiculus (white matter) (84.5), Dorsal raphe nucleus (82.8).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets:
| Target | Regulation |
|---|---|
| CDKN2A | Unknown |
Upstream regulators (CollecTRI, top): MYCN, NF1, PARP1, SP1, TP53
miRNA regulators (miRDB)
Targeting DDB1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 70 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
Functional genomics
gnomAD constraint: pLI 1, LOEUF 0.195, missense Z 6.46 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000301764 splits into 7 regions with different missense tolerance; 3 are missense-constrained (≈19% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 11:61,300,139–61,303,070 | 116 / 221.6 | 0.52 | no |
| 11:61,303,071–61,309,059 | 36 / 139.9 | 0.26 | yes (p 1.6e-18) |
| 11:61,309,060–61,316,538 | 396 / 554.1 | 0.71 | no |
| 11:61,316,539–61,323,043 | 35 / 123.3 | 0.28 | yes (p 1.8e-15) |
| 11:61,323,044–61,324,066 | 35 / 57.5 | 0.61 | no |
| 11:61,324,067–61,324,110 | 0 / 17.9 | 0.00 | yes (p 2.3e-05) |
| 11:61,324,111–61,332,968 | 210 / 344.8 | 0.61 | no |
| DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential. |
Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): T-47D (-3.028), NCI-H1581 (-2.991), NOMO-1 (-2.988), THP-1 (-2.944), NIH:OVCAR-3 (-2.905), JH-EsoAd1 (-2.867), BT-12 (-2.855), Lu-65 (-2.773), SNU-213 (-2.74), NCI-H2170 (-2.722), SNU-869 (-2.716), SNU-1196 (-2.715), SNU-1033 (-2.707), NCI-H2887 (-2.705), TE-10 (-2.688).
Literature-anchored findings (GeneRIF, showing 40)
- Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation (PMID:12034848)
- findings substantiate the physical and functional connection between the hepatitis B virus X protein and the DDB1-DDB2 heterodimer, leading to the regulation of the pool of the viral protein (PMID:12050362)
- These findings indicate that hepatitis B virus X protein acts through a pathway that involves a DDB2-independent nuclear function of DDB1 and that this activity will depend on the relative concentration of DDB1 and DDB2 in cells. (PMID:12151405)
- essential for the targeted degradation of STAT1 by the V protein of the paramyxovirus simian virus 5. DDB1 may form a multiprotein complex with STAT1, STAT2, and V for this degradation. (PMID:12388698)
- SV5-V and HBx have evolved to bind DDB1 to achieve distinct functions in their life cycle, both by a mechanism that does not involve DDB2. (PMID:12743284)
- DET1 promotes ubiquitination and degradation of c-Jun by assembling a multisubunit ubiquitin ligase containing DNA Damage Binding Protein-1 (DDB1), cullin 4A (CUL4A), Regulator of Cullins-1 (ROC1), and constitutively photomorphogenic-1 (PMID:14739464)
- Damaged DNA binding protein 1 is a component of the centromere complex in interphase cells. (PMID:15009096)
- results show that HBx in association with DDB1 acts in the nucleus and stimulates hepatitis B virus replication mainly by enhancing viral mRNA levels (PMID:15767425)
- DDB1-DDB2 protein complex recognizes DNA mismatches and lesions (PMID:16223728)
- PCNA is involved in mediating Cdt1 degradation by the Cul4-Ddb1 ligase in response to DNA damage. (PMID:16407242)
- Cdt1 degradation requires predominant use of the PCNA/Cul4/Ddb1 ubiquitin ligase pathway after DNA damage (PMID:16407252)
- Monoubiquitinated histone H2A in native chromatin coimmunoprecipitates with the endogenous DDB1-CUL4A(DDB2) complex in response to UV irradiation. (PMID:16473935)
- The F-box protein Skp2, in addition to utilizing Cul1-Skp1, utilizes Cul4A-DDB1 to induce proteolysis of p27Kip1. (PMID:16537899)
- This study uncovers CUL4-DDB-ROC1 as a histone ubiquitin ligase and demonstrate that histone H3 and H4 ubiquitylation participates in the cellular response to DNA damage. (PMID:16678110)
- PCNA, L2DTL and the DDB1-CUL4A complex play critical and differential roles in regulating the protein stability of p53 and MDM2/HDM2 in unstressed and stressed cells. (PMID:16861890)
- L2DTL and PCNA interact with CUL4/DDB1 complexes and are involved in CDT1 degradation after DNA damage. (PMID:16861906)
- Results suggest that DDB1 prevents DNA lesions from accumulating in replicating human cells, in part by regulating Cdt1 degradation. (PMID:16940174)
- These studies uncover diverse substrate receptors for Cul4 and identify Cdt2 as a conserved component of the Cul4-Ddb1 E3 that is essential to destroy Cdt1 and ensure proper cell cycle regulation of DNA replication. (PMID:16949367)
- DDB1 aids in recruiting the ubiquitin ligase activity to the damaged sites for successful commencement of lesion processing by nucleotide excision repair. (PMID:16951172)
- X ray crystallography shows that DDB1 uses one beta-propeller domain for cullin scaffold binding and a variably attached separate double-beta-propeller fold for substrate presentation (PMID:16964240)
- A protein motif, the DWD box (DDB1-binding WD40 protein) was identified, and the binding of 15 DWD proteins with DDB1-CUL4A was demonstrated. (PMID:17079684)
- the interaction with DDB1 mediates Vpr-induced apoptosis and UNG2/SMUG1 degradation and impairs the repair of UV-damaged DNA, which could account for G(2) arrest and apoptosis (PMID:17360488)
- The Cul4-DDB1[VprBP] E3 ubiquitin ligase complex is identified as the downstream effector of lentiviral Vpr for the induction of cell cycle arrest in G2 phase. (PMID:17609381)
- The HIV1 protein Vpr acts to promote G2 cell cycle arrest by engaging a DDB1 and Cullin4A-containing ubiquitin ligase complex using VprBP/DCAF1 as an adaptor. (PMID:17620334)
- Vpr assembles with DDB1 through interaction with DCAF1 to form an E3 ubiquitin ligase that targets cellular substrates for proteasome-mediated degradation and G2 arrest (PMID:17626091)
- CUL4-DDB1 ubiquitin ligase interacts with Raptor and regulates the mTORC1-mediated signaling pathway through ubiquitin-dependent proteolysis. (PMID:18235224)
- DDB1 has a role in preventing the HBx-siRNA-mediated inhibition of HBV replication (PMID:18289873)
- VprBP depletion abolished the in vivo interaction of Merlin and Roc1-Cullin4A-DDB1, which resulted in Merlin stabilization and inhibited ERK and Rac activation (PMID:18332868)
- Results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover. (PMID:18381890)
- Cul4A-DDB1DCAF1 ubiquitin ligase assembly protects HIV-1 Vpr from proteasomal degradation (PMID:18524771)
- LMP1 triggers the PI3K/Akt pathway to inactivate FOXO3a and decrease DDB1, which can lead to repression of DNA repair and may contribute to genomic instability in human epithelial cells (PMID:18524825)
- DDB1-CUL4B(DDB2) E3 ligase may have a distinctive function in modifying the chromatin structure at the site of UV lesions to promote efficient NER. (PMID:18593899)
- Data show that human immunodeficiency virus type 1 Vpr-binding protein VprBP binds stoichiometrically with DDB1 through its WD40 domain and through DDB1 to CUL4A, subunits of the COP9/signalsome. (PMID:18606781)
- CDK inhibitor p21 is degraded by a proliferating cell nuclear antigen-coupled Cul4-DDB1Cdt2 pathway during S phase and after UV irradiation (PMID:18703516)
- Results suggest a model in which UV-dependent degradation of DDB2 is important for the release of DDB1 from continuous association to unrepaired DNA and makes DDB1 available for its other DNA damage response functions. (PMID:18936169)
- The structure DDB1-DDB2 complex provides insights into damage recognition in chromatin and suggests a mechanism by which the DDB1-associated CUL4 ubiquitin ligase targets proteins surrounding the site of damage. (PMID:19109893)
- DDB1-CUL4 and MLL1 complexes constitute a novel pathway that mediates p16 activation during oncogenic checkpoint response. (PMID:19208841)
- Chk1 abundance is regulated by the Cul4A/DDB1 ubiquitin ligase during an unperturbed cell division cycle, in response to replicative stress and on heat shock protein 90 inhibition. (PMID:19276361)
- Data show that REDD1 is subject to ubiquitin-mediated degradation mediated by the CUL4A-DDB1-ROC1-beta-TRCP E3 ligase complex and through the activity of glycogen synthase kinase 3beta. (PMID:19557001)
- The data suggest that DDB1 could potentially be developed into biomarkers of resistance to acyl sulfonamide-based cancer drugs. This will require clinical validation in a series of patients treated with R3200. (PMID:19723642)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddb1 | ENSDARG00000074431 |
| mus_musculus | Ddb1 | ENSMUSG00000024740 |
| rattus_norvegicus | Ddb1 | ENSRNOG00000020715 |
| drosophila_melanogaster | pic | FBGN0260962 |
| caenorhabditis_elegans | WBGENE00010890 |
Paralogs (2): CPSF1 (ENSG00000071894), SF3B3 (ENSG00000189091)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1202384) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 35 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal urinary bladder morphology | 1 |
| abnormal thymus morphology | 1 |
| enlarged thymus | 1 |
| decreased brain size | 1 |
| abnormal cerebral cortex morphology | 1 |
| abnormal olfactory bulb morphology | 1 |
| abnormal lateral ventricle morphology | 1 |
| abnormal fourth ventricle morphology | 1 |
| small cerebellum | 1 |
| abnormal cerebellum external granule cell layer morphology | 1 |
| small testis | 1 |
| abnormal lens morphology | 1 |
| cataract | 1 |
| hyperactivity | 1 |
| intracranial hemorrhage | 1 |
| intracerebral hemorrhage | 1 |
| abnormal skin morphology | 1 |
| abnormal seminiferous tubule morphology | 1 |
| oligozoospermia | 1 |
| abnormal neuron apoptosis | 1 |
| dilated vasculature | 1 |
| abnormal brain vasculature morphology | 1 |
| decreased Sertoli cell number | 1 |
| abnormal cerebral aqueduct morphology | 1 |
| cerebellum hemorrhage | 1 |
+10 more (showing top 25).
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Chlorocebus aethiops | P33194 | 99.9% | Diamond |
| Pongo abelii | Q5R649 | 99.8% | Diamond |
| Bos taurus | A1A4K3 | 99.7% | Diamond |
| Solanum cheesmaniae | Q6E7D1 | 99.5% | Diamond |
| Solanum lycopersicum | Q6QNU4 | 99.5% | Diamond |
| Gallus gallus | Q805F9 | 96.8% | Diamond |
| Xenopus laevis | Q6P6Z0 | 93.4% | Diamond |
| Arabidopsis thaliana | O49552 | 91.3% | Diamond |
| Oryza sativa Japonica Group | Q6L4S0 | 83.6% | Diamond |
| Dictyostelium discoideum | B0M0P5 | 44.5% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| VWCE | protein-coding | 220001 |
| CYB561A3 | protein-coding | 220002 |
| TKFC | protein-coding | 26007 |
| PGA5 | protein-coding | 5222 |
| PGA4 | protein-coding | 643847 |
| TMEM138 | protein-coding | 51524 |
| TMEM216 | protein-coding | 51259 |
| CPSF7 | protein-coding | 79869 |
| PGA3 | protein-coding | 643834 |
Protein
Protein identifiers
DNA damage-binding protein 1 — Q16531 (reviewed: Q16531)
Alternative names: DDB p127 subunit, DNA damage-binding protein a, Damage-specific DNA-binding protein 1, HBV X-associated protein 1, UV-damaged DNA-binding factor, UV-damaged DNA-binding protein 1, XPE-binding factor, Xeroderma pigmentosum group E-complementing protein
All UniProt accessions (14): A0A7P0T870, A0A7P0T965, A0A7P0TAK7, A0A7P0TAX4, A0A7P0TB30, A0A7P0Z3Z5, A0A7P0Z4B9, A0A7P0Z4L2, Q16531, F5GWI0, F5GY55, F5GZY8, F5H198, F5H2L3
UniProt curated annotations — full annotation on UniProt →
Function. Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1. DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver. By acting on TET dioxygenses, essential for oocyte maintenance at the primordial follicle stage, hence essential for female fertility. Maternal factor required for proper zygotic genome activation and genome reprogramming.
Subunit / interactions. Component of the UV-DDB complex which includes DDB1 and DDB2; the heterodimer dimerizes to give rise to a heterotetramer when bound to damaged DNA. The UV-DDB complex interacts with monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit. Component of numerous DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which consist of a core of DDB1, CUL4A or CUL4B and RBX1. DDB1 may recruit specific substrate targeting subunits to the DCX complex. These substrate targeting subunits are generally known as DCAF (DDB1- and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Interacts with AMBRA1, ATG16L1, BTRC, CRBN, DCAF1, DCAF4, DCAF5, DCAF6, DCAF7, DCAF8, DCAF9, DCAF10, DCAF11, DCAF12, DCAF15, DCAF16, DCAF17, DDA1, DET1, DTL, ERCC8, FBXW5, FBXW8, GRWD1, KATNB1, NLE1, NUP43, PAFAH1B1, PHIP, PWP1, RBBP4, RBBP5, RBBP7, COP1, SNRNP40, DCAF1, WDR5, WDR5B, WDR12, WDR26, WDR39, WDR42, WDR53, WDR59, WDR61, WSB1, WSB2, LRWD1 and WDTC1. DCX complexes may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex. Interacts with NF2, TSC1 and TSC2. Interacts with AGO1 and AGO2. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and DCAF1 proteins (EDVP complex). Interacts directly with DYRK2. DCX(DTL) complex interacts with FBXO11; does not ubiquitinate and degradate FBXO11. Interacts with TRPC4AP. Interacts with CRY1 and CRY2. The DDB1-CUL4A complex interacts with CRY1. May also interact with DCUN1D1, DCUN1D2, DCUN1D3 and DCUN1D5. Component of the DCX(DCAF13) E3 ubiquitin ligase complex, at least composed of CUL4 (CUL4A or CUL4B), DDB1, DCAF13 and RBX1. Interacts with DCAF13 (via WD40 domain). Interacts with FBXO44. (Microbial infection) Interacts with Simian virus 5 protein V. (Microbial infection) Interacts with hepatitis B virus protein HBX; the viral protein contains a short helical motif that competes for the same binding site as the N-terminal helical motif found in endogenous DCAF proteins. (Microbial infection) Interacts with human cytomegalovirus protein UL145; this interaction promotes STAT2 degradation. (Microbial infection) Interacts with human cytomegalovirus protein RL1; this interaction allows RL1 to recruit the cullin4-RING E3 ubiquitin ligase (CRL4) complex and promote SLN11 degradation.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Phosphorylated by ABL1. Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis. Acetylated, promoting interaction with CUL4 (CUL4A or CUL4B) and subsequent formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Deacetylation by SIRT7 impairs the interaction with CUL4 (CUL4A or CUL4B) and formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes.
Disease relevance. White-Kernohan syndrome (WHIKERS) [MIM:619426] An autosomal dominant disorder characterized by global developmental delay, variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have genitourinary and skeletal abnormalities. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The core of the protein consists of three WD40 beta-propeller domains.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the DDB1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16531-1 | 1 | yes |
| Q16531-2 | 2 |
RefSeq proteins (1): NP_001914* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004871 | RSE1/DDB1/CPSF1_C | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR018846 | Beta-prop_RSE1/DDB1/CPSF1_1st | Domain |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050358 | RSE1/DDB1/CFT1 | Family |
| IPR058543 | Beta-prop_RSE1/DDB1/CPSF1_2nd | Domain |
Pfam: PF03178, PF10433, PF23726
UniProt features (182 total): strand 123, helix 18, turn 13, sequence variant 6, mutagenesis site 6, region of interest 5, sequence conflict 4, modified residue 3, initiator methionine 1, chain 1, cross-link 1, splice variant 1
Structure
Experimental structures (PDB)
showing 30 of 219 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 9BBG | Co-crystal structure of human DDB1 bound to fragment UB028671 | X-RAY DIFFRACTION | 1.7 |
| 9EJQ | Crystal structure of DDB1 in complex with XS381952 | X-RAY DIFFRACTION | 1.87 |
| 9BBI | Co-crystal structure of human DDB1 bound to fragment UB028669 | X-RAY DIFFRACTION | 1.9 |
| 9BZ0 | Structure of an STK19-containing TC-NER complex | ELECTRON MICROSCOPY | 1.9 |
| 9BBE | Co-crystal structure of human DDB1 bound to fragment UB028668 | X-RAY DIFFRACTION | 2 |
| 9BBH | Co-crystal structure of human DDB1 bound to fragment UB028670 | X-RAY DIFFRACTION | 2 |
| 9FJX | Crystal structure of human CRBN-DDB1 in complex with Lenalidomide | X-RAY DIFFRACTION | 2 |
| 9ZXN | DDB1 delta with compound 26 | X-RAY DIFFRACTION | 2.07 |
| 9ZXM | DDB1 delta with compound 6 | X-RAY DIFFRACTION | 2.19 |
| 8G46 | Cryo-EM structure of DDB1deltaB-DDA1-DCAF16-BRD4(BD2)-MMH2 | ELECTRON MICROSCOPY | 2.2 |
| 8ZSW | Crystal Structure of Human DDB1, a Component of the E3 Ubiquitin Ligase Complex | X-RAY DIFFRACTION | 2.25 |
| 3EI3 | Structure of the hsDDB1-drDDB2 complex | X-RAY DIFFRACTION | 2.3 |
| 6UD7 | Crystal structure of full-length human DCAF15-DDB1(deltaBPB)-DDA1-RBM39 in complex with … | X-RAY DIFFRACTION | 2.3 |
| 9PTU | Cryo-EM structure of the DCAF11 E3 ligase bound to the DDX18 helicase mediated by GSH-M12 | ELECTRON MICROSCOPY | 2.38 |
| 9SFM | Crystal structure of Cereblon-DDB1 in complex with SB-405483 and Lenalidomide | X-RAY DIFFRACTION | 2.39 |
| 3E0C | Crystal Structure of DNA Damage-Binding protein 1(DDB1) | X-RAY DIFFRACTION | 2.41 |
| 8TNQ | Cryo-EM structure of DDB1dB:CRBN:PT-179:SD40, conformation 1 | ELECTRON MICROSCOPY | 2.41 |
| 5FQD | Structural basis of Lenalidomide induced CK1a degradation by the crl4crbn ubiquitin ligase | X-RAY DIFFRACTION | 2.45 |
| 8OIZ | Crystal structure of human CRBN-DDB1 in complex with Pomalidomide | X-RAY DIFFRACTION | 2.5 |
| 8TNR | Cryo-EM structure of DDB1dB:CRBN:PT-179:SD40, conformation 2 | ELECTRON MICROSCOPY | 2.5 |
| 9OS2 | Cryo-EM structure of the DDB1/CRBN-MRT-5702-G3BP2 ternary complex | ELECTRON MICROSCOPY | 2.5 |
| 6ZX9 | Crystal structure of SIV Vpr,fused to T4 lysozyme, isolated from moustached monkey, bound … | X-RAY DIFFRACTION | 2.52 |
| 9SAF | Ternary PROTAC-mediated complex of BRD4-BD1/CRBN/DDB1 and JQ1-AcQ bifunctional degrader | ELECTRON MICROSCOPY | 2.55 |
| 3EI2 | Structure of hsDDB1-drDDB2 bound to a 16 bp abasic site containing DNA-duplex | X-RAY DIFFRACTION | 2.6 |
| 8B3D | Structure of the Pol II-TCR-ELOF1 complex. | ELECTRON MICROSCOPY | 2.6 |
| 6UE5 | Crystal structure of full-length human DCAF15-DDB1-deltaPBP-DDA1-RBM39 in complex with … | X-RAY DIFFRACTION | 2.61 |
| 8TL6 | Cryo-EM structure of DDB1deltaB-DDA1-DCAF5 | ELECTRON MICROSCOPY | 2.63 |
| 9LTJ | Cryo-EM structure of DDB1-DDA1-DET1 complex | ELECTRON MICROSCOPY | 2.65 |
| 9SAI | Ternary PROTAC-mediated complex consisting of Cereblon, DDB1 and BRD4-BD1, non-covalently … | ELECTRON MICROSCOPY | 2.66 |
| 9J6K | HBx complexed with DDB1 | ELECTRON MICROSCOPY | 2.68 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16531-F1 | 92.14 | 0.78 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Human disease related genes, Congenital malformations, Other congenital malformations, Essential proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm; end piece; mid piece; principal piece
Antibody reliability (HPA): IH approved · IF enhanced
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4)
| Type | Positions |
|---|---|
| Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2) | 1121 |
| N-acetylserine | 2 |
| N6-acetyllysine | 1067 |
| Phosphothreonine | 1125 |
Mutagenesis-validated functional residues (6)
| Position | Phenotype |
|---|---|
| 316–319 | impairs interaction with dda1. |
| 537 | slightly impairs interaction with cul4a. |
| 561 | strongly impairs interaction with cul4a. |
| 840–842 | impairs interaction with ambra1, dtl, det1, dcaf1, dcaf5, dcaf11 and dcaf8. |
| 910–913 | impairs interaction with ambra1, dtl and dcaf5. |
| 953 | impairs interaction with ambra1, ercc8, dcaf5 and dcaf11. |
Function
Pathways and Gene Ontology
Reactome pathways
10 curated (TAS) of 16; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
16 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-5696394 | DNA Damage Recognition in GG-NER | curated |
| R-HSA-5696400 | Dual Incision in GG-NER | curated |
| R-HSA-6782135 | Dual incision in TC-NER | curated |
| R-HSA-5696395 | Formation of Incision Complex in GG-NER | curated |
| R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex | curated |
| R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER | curated |
| R-HSA-8951664 | Neddylation | curated |
| R-HSA-9974237 | Negative Regulation of DNA Double Strand Break Response | curated |
| R-HSA-110314 | Recognition of DNA damage by PCNA-containing replication complex | curated |
| R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | curated |
| R-HSA-73893 | DNA Damage Bypass | — |
| R-HSA-73894 | DNA Repair | — |
| R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) | — |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-5696398 | Nucleotide Excision Repair | — |
| R-HSA-597592 | Post-translational protein modification | — |
MSigDB gene sets: 0 (showing top):
GO Biological Process (36): DNA repair (GO:0006281), nucleotide-excision repair (GO:0006289), ubiquitin-dependent protein catabolic process (GO:0006511), DNA damage response (GO:0006974), spindle assembly involved in female meiosis (GO:0007056), spermatogenesis (GO:0007283), cell population proliferation (GO:0008283), proteasomal protein catabolic process (GO:0010498), regulation of autophagy (GO:0010506), protein ubiquitination (GO:0016567), viral release from host cell (GO:0019076), regulation of DNA-templated DNA replication initiation (GO:0030174), replication fork processing (GO:0031297), regulation of natural killer cell activation (GO:0032814), cellular response to UV (GO:0034644), epigenetic regulation of gene expression (GO:0040029), regulation of cell population proliferation (GO:0042127), regulation of circadian rhythm (GO:0042752), regulation of apoptotic process (GO:0042981), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), epigenetic programming in the zygotic pronuclei (GO:0044725), positive regulation of viral genome replication (GO:0045070), positive regulation of gluconeogenesis (GO:0045722), positive regulation of protein catabolic process (GO:0045732), regulation of embryonic development (GO:0045995), positive regulation by virus of viral protein levels in host cell (GO:0046726), rhythmic process (GO:0048511), biological process involved in interaction with symbiont (GO:0051702), regulation of miRNA-mediated gene silencing (GO:0060964), UV-damage excision repair (GO:0070914), regulation of cellular response to stress (GO:0080135), regulation of cell cycle phase transition (GO:1901987), regulation of mitotic cell cycle phase transition (GO:1901990), regulation of mitotic cytokinesis (GO:1902412), negative regulation of adipose tissue development (GO:1904178), regulation of stem cell population maintenance (GO:2000036)
GO Molecular Function (9): DNA binding (GO:0003677), damaged DNA binding (GO:0003684), protein-macromolecule adaptor activity (GO:0030674), protein-containing complex binding (GO:0044877), WD40-repeat domain binding (GO:0071987), cullin family protein binding (GO:0097602), ubiquitin ligase complex scaffold activity (GO:0160072), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (11): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Cul4A-RING E3 ubiquitin ligase complex (GO:0031464), Cul4B-RING E3 ubiquitin ligase complex (GO:0031465), protein-containing complex (GO:0032991), site of double-strand break (GO:0035861), extracellular exosome (GO:0070062), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)
Reactome top-level categories
8 top-level categories:
| Category | Pathways |
|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 3 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 3 |
| Nucleotide Excision Repair | 2 |
| DNA Repair | 2 |
| DNA Damage Bypass | 1 |
| Post-translational protein modification | 1 |
| DNA Double Strand Break Response | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
53 GO namespaces:
| Category | Terms |
|---|---|
| binding | 3 |
| protein binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| Cul4-RING E3 ubiquitin ligase complex | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| DNA repair | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| cellular response to stress | 1 |
| female meiotic nuclear division | 1 |
| meiotic spindle assembly | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular process | 1 |
| protein catabolic process | 1 |
| autophagy | 1 |
| regulation of catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| viral process | 1 |
| viral life cycle | 1 |
| exit from host cell | 1 |
| DNA replication initiation | 1 |
| regulation of DNA-templated DNA replication | 1 |
| DNA-templated DNA replication maintenance of fidelity | 1 |
| natural killer cell activation | 1 |
| regulation of lymphocyte activation | 1 |
| response to UV | 1 |
| cellular response to light stimulus | 1 |
| chromatin remodeling | 1 |
| regulation of gene expression | 1 |
| cell population proliferation | 1 |
| regulation of cellular process | 1 |
| circadian rhythm | 1 |
| regulation of biological process | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| molecular adaptor activity | 1 |
| protein domain specific binding | 1 |
| protein complex scaffold activity | 1 |
| chromosomal region | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular_component | 1 |
| site of DNA damage | 1 |
| extracellular vesicle | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 30 of 57 annotations. The rest are phylogenetic / computational / electronic (IEA).
30 experimentally-supported GO terms:
Protein interactions and networks
STRING
showing 15 of 3,439 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDB1 | CUL4A | Q13619 | 985 |
| DDB1 | DDB2 | Q92466 | 972 |
| DDB1 | RBX1 | P62877 | 962 |
| DDB1 | CRBN | Q96SW2 | 955 |
| DDB1 | DET1 | Q7L5Y6 | 955 |
| DDB1 | DCAF1 | Q9Y4B6 | 945 |
| DDB1 | DTL | Q9NZJ0 | 928 |
| DDB1 | CDT1 | Q9H211 | 912 |
| DDB1 | CUL4B | Q13620 | 900 |
| DDB1 | DCAF11 | Q8TEB1 | 899 |
| DDB1 | NEDD8 | Q15843 | 804 |
| DDB1 | CUL1 | Q13616 | 785 |
| DDB1 | XPA | P23025 | 781 |
| DDB1 | FBXW5 | Q969U6 | 777 |
| DDB1 | SKP1 | P34991 | 770 |
IntAct
Human interaction partners of DDB1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
showing 30 of 61 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| DDB2 | physical association | 0.970 | 14 |
| CUL4B | association | 0.940 | 5 |
| CUL4A | association | 0.920 | 5 |
| DCAF8 | direct interaction | 0.910 | 5 |
| DCAF4 | direct interaction | 0.790 | 3 |
| DDA1 | direct interaction | 0.780 | 3 |
| DCAF11 | direct interaction | 0.760 | 1 |
| DTL | association | 0.740 | 2 |
| CRBN | physical association | 0.720 | 5 |
| DCAF1 | physical association | 0.690 | 3 |
| WDTC1 | direct interaction | 0.670 | 2 |
| COPS3 | physical association | 0.660 | 1 |
| DCAF12 | direct interaction | 0.590 | 1 |
| DCAF5 | direct interaction | 0.590 | 1 |
| DCAF6 | direct interaction | 0.590 | 1 |
| ACTR5 | association | 0.580 | 4 |
| INO80 | association | 0.580 | 4 |
| EED | physical association | 0.560 | 4 |
| X | direct interaction | 0.540 | 3 |
| RBX1 | association | 0.530 | 2 |
| COP1 | association | 0.530 | 1 |
| STAT1 | physical association | 0.510 | 2 |
| FBXW5 | physical association | 0.500 | 1 |
| L3MBTL3 | physical association | 0.500 | 1 |
| TLE2 | physical association | 0.500 | 1 |
| DDIT4 | association | 0.460 | 2 |
| TRPC4AP | direct interaction | 0.410 | 1 |
| INVS | physical association | 0.400 | 1 |
| NPHP4 | physical association | 0.400 | 1 |
| NUDCD3 | physical association | 0.400 | 1 |
BioGRID (1,600 interactions; top human partners by supporting records in a sample of 600 records): CUL4B (Co-fractionation; 33 records), CUL4A (Affinity Capture-Western; 31 records), DDB2 (Affinity Capture-Western; 18 records), CRBN (Affinity Capture-Western; 16 records), VPRBP (Affinity Capture-Western; 15 records), DCAF11 (Affinity Capture-Western; 10 records), DCAF8 (Affinity Capture-Western; 10 records), DTL (Affinity Capture-MS; 10 records), ERCC8 (Affinity Capture-Western; 9 records), PHIP (Affinity Capture-Western; 9 records), AMBRA1 (Affinity Capture-Western; 8 records), DET1 (Affinity Capture-Western; 6 records), SIRT7 (Affinity Capture-MS; 6 records), DCAF15 (Affinity Capture-Western; 5 records), DCAF4 (Affinity Capture-Western; 5 records)
SIGNOR signaling
9 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| DDB1 | “form complex” | “DCX DET1-COP1” | binding |
| DDB1 | “form complex” | Cullin4-RBX1-DDB1 | binding |
| DDB1 | “form complex” | EDVP | binding |
| DDB1 | “form complex” | DDB2/DDB1 | binding |
| DDB1 | up-regulates | E2F1 | binding |
| “UVB radiation” | up-regulates | DDB1 | |
| DDB1 | up-regulates | RAD23A | |
| DDB1 | up-regulates | RAD23B | |
| SIRT7 | “down-regulates activity” | DDB1 | deacetylation |
Protein complexes (CORUM) (30)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
30 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| CEN complex | 37 | SUPT16H, BMI1, CENPC, CENPU, FBL, RNF2, COBLL1, CUL4A, DDB1, HSPA5, NUP93, KIF23, ZFP91, CENPI, CENPK, RACGAP1, SSRP1, ZC3H13, CENPH, CENPM, HSPA8, VIRMA, CBX3, CENPB, SMARCA5, SRRT, CBX8, CENPA, CENPO, PLPPR3, RSF1, WDR11, WTAP, CENPL, DHX38, RING1, SHCBP1 |
| ★ SNW1 complex | 18 | SNW1, TUBB, ABCF2, DDB1, DDX23, EEF1A1, HSPA5, PFKL, CDC5L, EFTUD2, PRPF8, SFPQ, MATR3, MSH2, UBR5, EEF1G, HNRNPU, SNRNP200 |
| CSA-POLIIa complex | 13 | COPS3, COPS4, COPS5, COPS7A, CUL4A, ERCC8, RBX1, COPS2, COPS6, COPS8, DDB1, GPS1, POLR2A |
| DDB2 complex | 12 | COPS7A, CUL4A, DDB1, DDB2, COPS4, COPS6, COPS8, GPS1, RBX1, COPS2, COPS3, COPS5 |
| CSA complex | 12 | COPS5, COPS7A, CUL4A, DDB1, GPS1, RBX1, COPS2, COPS6, COPS8, ERCC8, COPS3, COPS4 |
| ★ UV-DDB complex | 8 | PARP1, COPS4, COPS7A, CUL4A, CUL4B, DDB1, DDB2, GPS1 |
| Ubiquitin E3 ligase (AHR, ARNT, DDB1, TBL3, CUL4B, RBX1) | 6 | RBX1, TBL3, AHR, ARNT, CUL4B, DDB1 |
| ★ PARP1-XPC-DDB ligase complex | 6 | CUL4A, DDB1, DDB2, PARP1, RBX1, XPC |
| Ubiquitin E3 ligase (DDB1, DDB2, CUL4A, CUL4B, RBX1) | 5 | DDB2, RBX1, CUL4A, CUL4B, DDB1 |
| Ubiquitin E3 ligase (DET1, DDB1, CUL4A, RBX1, COP1) | 5 | COP1, CUL4A, DDB1, DET1, RBX1 |
| CUL4B-DDB1-DTL-CSN complex | 5 | DDB1, DTL, GPS1, COPS2, CUL4B |
| WDTC1-DDB1-CUL4-ROC1 E3 ligase complex | 5 | CUL4A, CUL4B, DDB1, RBX1, WDTC1 |
| Ubiquitin E3 ligase (CDT1, DDB1, CUL4A, RBX1) | 4 | CDT1, CUL4A, DDB1, RBX1 |
| Ubiquitin E3 ligase (DDB1, DYRK2, EDD, VPRBP) | 4 | UBR5, DCAF1, DDB1, DYRK2 |
| Ubiquitin E3 ligase (DDIT4, DDB1, BTRC, CUL4A) | 4 | BTRC, CUL4A, DDB1, DDIT4 |
| ★ CRBN-DDB1-CUL4A-RBX1 E3 ubiquitin ligase | 4 | CRBN, CUL4A, DDB1, RBX1 |
| Ubiquitin E3 ligase (DDB1, CUL4A, RBX1) | 3 | DDB1, RBX1, CUL4A |
| CUL4A-DDB1-DTL complex | 3 | DTL, CUL4A, DDB1 |
| CUL4B-DDB1-TLE2 complex | 3 | CUL4B, DDB1, TLE2 |
| CUL4A-DDB1-EED complex | 3 | CUL4A, DDB1, EED |
| CUL4A-DDB1-WDR5 complex | 3 | CUL4A, DDB1, WDR5 |
| CUL4B-DDB1-WDR26 complex | 3 | CUL4B, DDB1, WDR26 |
| CUL4A-DDB1-RBBP5 complex | 3 | CUL4A, DDB1, RBBP5 |
| CUL4A-DDB1-WDR5B complex | 3 | WDR5B, CUL4A, DDB1 |
| CUL4A-DDB1-WDR57 complex | 3 | SNRNP40, CUL4A, DDB1 |
| CUL4A-DDB1-WDR61 complex | 3 | CUL4A, DDB1, SKIC8 |
| CUL4B-DDB1-GRWD1 complex | 3 | CUL4B, DDB1, GRWD1 |
| CUL4B-DDB1-TLE1 complex | 3 | CUL4A, DDB1, TLE1 |
| CUL4B-DDB1-TLE3 complex | 3 | CUL4B, DDB1, TLE3 |
| DDB complex | 2 | DDB1, DDB2 |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 61 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 7 | 38.4× | 9e-08 |
| Neddylation | 17 | 15.5× | 8e-14 |
| PRC2 methylates histones and DNA | 5 | 14.6× | 1e-03 |
| Regulation of PD-L1(CD274) transcription | 6 | 12.6× | 1e-03 |
| Activation of anterior HOX genes in hindbrain development during early embryogenesis | 6 | 10.5× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cellular response to UV | 5 | 25.1× | 1e-04 |
| positive regulation of protein catabolic process | 5 | 17.2× | 8e-04 |
| protein polyubiquitination | 7 | 13.7× | 8e-05 |
| MAPK cascade | 5 | 13.0× | 2e-03 |
| protein ubiquitination | 17 | 11.9× | 2e-11 |
| negative regulation of canonical Wnt signaling pathway | 5 | 10.0× | 5e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 10 | 8.8× | 3e-05 |
| positive regulation of canonical NF-kappaB signal transduction | 7 | 8.6× | 9e-04 |
Disease & clinical
Genetic variants
Variant evidence for DDB1: 238 ClinVar records (6 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.
ClinVar
238 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 3 |
| Uncertain significance | 149 |
| Likely benign | 29 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (6)
Showing all 6 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 1183956 | NM_001923.5(DDB1):c.563G>A (p.Arg188Gln) | Pathogenic | criteria provided, single submitter | 2 |
| 1183957 | NM_001923.5(DDB1):c.637G>A (p.Glu213Lys) | Likely pathogenic | criteria provided, single submitter | 2 |
| 1700082 | NM_001923.5(DDB1):c.341G>A (p.Arg114His) | Likely pathogenic | criteria provided, single submitter | 1 |
| 3384139 | NM_001923.5(DDB1):c.2353G>A (p.Glu785Lys) | Likely pathogenic | criteria provided, single submitter | 1 |
| 1183954 | NG_032697.2:g.20705_20713del | Pathogenic | no assertion criteria provided | 1 |
| 1183958 | NM_001923.5(DDB1):c.1285T>G (p.Phe429Val) | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore DDB1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 2,339):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 11:61300807–61300808 | donor_loss | 1.0000 | 5 |
| 11:61300930 | acceptor_gain | 1.0000 | |
| 11:61302226 | donor_gain | 1.0000 | |
| 11:61302580–61302581 | donor_loss | 1.0000 | 5 |
| 11:61303044–61303045 | donor_loss | 1.0000 | 5 |
| 11:61303156–61303157 | acceptor_loss | 1.0000 | 3 |
| 11:61303157 | acceptor_gain | 1.0000 | |
| 11:61303168 | acceptor_gain | 1.0000 | |
| 11:61303171 | acceptor_gain | 1.0000 | |
| 11:61303863–61303864 | donor_loss | 1.0000 | 4 |
AlphaMissense
4,533 missense substitutions predicted likely pathogenic (of 7,531 scored), across 973 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M679 | 9 | 0.935 | 0.998 |
| M927 | 9 | 0.919 | 0.996 |
| M954 | 9 | 0.833 | 0.998 |
| D925 | 8 | 0.999 | 1.000 |
| D110 | 8 | 0.998 | 1.000 |
| F650 | 8 | 0.998 | 1.000 |
| D654 | 8 | 0.998 | 1.000 |
| H711 | 8 | 0.998 | 1.000 |
| F641 | 8 | 0.996 | 1.000 |
| D1090 | 8 | 0.996 | 0.999 |
| D608 | 8 | 0.995 | 1.000 |
| D705 | 8 | 0.994 | 0.999 |
| D1092 | 8 | 0.994 | 0.999 |
| D125 | 8 | 0.993 | 0.998 |
| D318 | 8 | 0.993 | 0.999 |
| F668 | 8 | 0.990 | 1.000 |
| H1140 | 8 | 0.990 | 0.998 |
| H189 | 8 | 0.988 | 0.999 |
| F429 | 8 | 0.986 | 0.999 |
| D948 | 8 | 0.984 | 0.994 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 2.28e-08 |
Disease associations
OMIM: gene MIM:600045 | disease phenotypes: MIM:619426
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| White-Kernohan syndrome | Strong | Autosomal dominant | 3 |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (5 panels, 5 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
5 panels:
| Panel | Rating |
|---|---|
| DDG2P | green |
| Hypotonic infant | green |
| Intellectual disability | green |
| Leukodystrophy, childhood onset | green |
| Paediatric disorders | green |
Mondo (1): White-Kernohan syndrome (MONDO:0859169)
HPO phenotypes
49 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000072 | Hydroureter |
| HP:0000085 | Horseshoe kidney |
| HP:0000126 | Hydronephrosis |
| HP:0000143 | Rectovaginal fistula |
| HP:0000154 | Wide mouth |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000293 | Full cheeks |
| HP:0000369 | Low-set ears |
| HP:0000400 | Macrotia |
| HP:0000403 | Recurrent otitis media |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000463 | Anteverted nares |
| HP:0000506 | Telecanthus |
| HP:0000527 | Long eyelashes |
| HP:0000537 | Epicanthus inversus |
| HP:0000574 | Thick eyebrow |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000601 | Hypotelorism |
| HP:0000637 | Long palpebral fissure |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000739 | Anxiety |
| HP:0000821 | Hypothyroidism |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001382 | Joint hypermobility |
| HP:0001385 | Hip dysplasia |
| HP:0001513 | Obesity |
| HP:0001545 | Anteriorly placed anus |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002870 | Obstructive sleep apnea |
| HP:0003196 | Short nose |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0005280 | Depressed nasal bridge |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0010804 | Tented upper lip vermilion |
| HP:0011228 | Horizontal eyebrow |
| HP:0011330 | Metopic synostosis |
| HP:0011463 | Childhood onset |
| HP:0011800 | Midface retrusion |
| HP:0012745 | Short palpebral fissure |
| HP:0020045 | Esodeviation |
| HP:0020206 | Simple ear |
| HP:0034003 | Broad medial eyebrow |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (9): CHEMBL3833061 (PROTEIN COMPLEX), CHEMBL4296145 (PROTEIN-PROTEIN INTERACTION), CHEMBL4524003 (PROTEIN-PROTEIN INTERACTION), CHEMBL4630734 (PROTEIN-PROTEIN INTERACTION), CHEMBL4888446 (PROTEIN COMPLEX), CHEMBL5291685 (PROTEIN-PROTEIN INTERACTION), CHEMBL5465550 (SINGLE PROTEIN), CHEMBL6195574 (PROTEIN-PROTEIN INTERACTION), CHEMBL6196201 (PROTEIN-PROTEIN INTERACTION)
Drugs acting on a complex or family that includes this protein
Curated ChEMBL mechanism-of-action drugs whose target is a protein complex or family of ≤10 members that includes DDB1 — the drug acts on the assembly or class, not necessarily on this subunit alone.
4 drugs via a complex or family:
| Drug | Target (ChEMBL) | Members | Max phase |
|---|---|---|---|
| LENALIDOMIDE | CRL4(CRBN) E3 ubiquitin ligase | 4 | 4 |
| POMALIDOMIDE | CRL4(CRBN) E3 ubiquitin ligase | 4 | 4 |
| THALIDOMIDE | CRL4(CRBN) E3 ubiquitin ligase | 4 | 4 |
| IBERDOMIDE | CRL4(CRBN) E3 ubiquitin ligase | 4 | 3 |
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 121,497 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
7 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL848 | LENALIDOMIDE | 4 | 5,405 |
| CHEMBL43452 | POMALIDOMIDE | 4 | 13,944 |
| CHEMBL468 | THALIDOMIDE | 4 | 98,570 |
| CHEMBL3989927 | IBERDOMIDE | 3 | 1,379 |
| CHEMBL4648616 | MEZIGDOMIDE | 3 | 517 |
| CHEMBL3989934 | AVADOMIDE | 2 | 1,583 |
| CHEMBL4297459 | CC-11006 | 1 | 99 |
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
1636 measured of 2378 human assays (2390 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| 6-(2-quinolin-4-ylimidazol-1-yl)-1,6-dihydrobenzimidazol-2-one | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 5-(2,3-dihydroindole-1-carbonyl)-1,3,3a,4,5,6,7,7a-octahydrobenzimidazol-2-one | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 1-methyl-2-oxo-N-phenyl-3H-imidazo[4,5-b]pyridine-6-carboxamide | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-methyl-3-(2-oxo-3,5-dihydrobenzimidazol-5-yl)-2-propan-2-ylbenzimidazole-5-carboxamide | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 2-(4-aminophenyl)-N-(2-oxo-1,3,3a,4,5,6,7,7a-octahydrobenzimidazol-5-yl)acetamide | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 2-[4-(methylsulfamoyl)phenyl]-N-(2-oxobenzimidazol-5-yl)acetamide | KD | 1 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-6,7-dihydro-5H-cyclopenta[b]pyridine-5-carboxamide | KD | 1 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-1-benzofuran-3-carboxamide | KD | 1 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]imidazo[1,2-a]pyridine-3-carboxamide | KD | 1 nM | US-11802131: Glutarimides for medical treatment |
| 2-Isopropyl-N-methyl-1-(2-oxoindolin-6-yl)benzimidazole-5-carboxamide | KD | 2 nM | US-12528797: Heterocyclic compounds for medical treatment |
| 6-(4-Hydroxyisoindoline-2-carbonyl)-3H-1,3-benzoxazol-2-one | KD | 2 nM | US-12528797: Heterocyclic compounds for medical treatment |
| methyl 6-(2,4-dioxo-1,3,7- triazaspiro[4.4]nonan-7- yl)nicotinate | KD | 2 nM | US-11623929: Spirocyclic compounds |
| N-(1-acetylpiperidin-4-yl)-2-oxo-1,7a-dihydroimidazo[4,5-b]pyridine-6-carboxamide | KD | 2 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 4-acetamido-N-(2-oxo-1,3,3a,4,5,6,7,7a-octahydrobenzimidazol-5-yl)benzamide | KD | 2 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-(2,6-dioxopiperidin-3-yl)-2,3-dihydroindole-1-carboxamide | KD | 2 nM | US-11802131: Glutarimides for medical treatment |
| N-(2,6-dioxopiperidin-3-yl)-1-benzofuran-3-carboxamide | KD | 2 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3R)-2,6-dioxopiperidin-3-yl]indolizine-3-carboxamide | KD | 2 nM | US-11802131: Glutarimides for medical treatment |
| 2-Isopropyl-N-methyl-1-(2-oxoindolin-5-yl)benzimidazole-5-carboxamide | KD | 3 nM | US-12528797: Heterocyclic compounds for medical treatment |
| 7-((S)-1,2,3,4- tetrahydronaphthalene-1-carbonyl)- 1,3,7-triazaspiro[4.4]nonane-2,4- dione | KD | 3 nM | US-11623929: Spirocyclic compounds |
| N-(1-acetylpiperidin-4-yl)-2-oxo-3,5-dihydrobenzimidazole-5-carboxamide | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| methyl 1-(2-oxo-3,3a-dihydrobenzimidazol-5-yl)benzimidazole-2-carboxylate | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 6-(benzimidazol-1-yl)-1,7a-dihydrobenzimidazol-2-one | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 6-[2-(1-hydroxyethyl)benzimidazol-1-yl]-1,7a-dihydrobenzimidazol-2-one | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 5-[2-[hydroxy(phenyl)methyl]benzimidazol-1-yl]-1,3,3a,4,5,6,7,7a-octahydrobenzimidazol-2-one | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-[1-[(2-oxo-1,3,3a,4,5,6,7,7a-octahydrobenzimidazol-5-yl)methyl]-2,3-dihydroindol-5-yl]acetamide | KD | 3 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-(2,6-dioxopiperidin-3-yl)-N-methyl-1H-indole-3-carboxamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3R)-2,6-dioxopiperidin-3-yl]-6,7-dihydro-5H-cyclopenta[b]pyridine-5-carboxamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| (1S)-N-[(3S)-2,6-dioxopiperidin-3-yl]-1,2,3,4-tetrahydronaphthalene-1-carboxamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3R)-2,6-dioxopiperidin-3-yl]imidazo[1,5-a]pyridine-3-carboxamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| 2-(3-acetamidophenyl)-N-[(3R)-2,6-dioxopiperidin-3-yl]acetamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3R)-2,6-dioxopiperidin-3-yl]-2-(2-oxo-1,3-dihydroindol-5-yl)acetamide | KD | 3 nM | US-11802131: Glutarimides for medical treatment |
| N-(2-Oxo-3H-1,3-benzoxazol-6-yl)benzamide | KD | 4 nM | US-12528797: Heterocyclic compounds for medical treatment |
| 6-(Indoline-1-carbonyl)-3H-1,3-benzoxazol-2-one | KD | 4 nM | US-12528797: Heterocyclic compounds for medical treatment |
| 7-benzoyl-1,3,7- triazaspiro[4.4]nonane-2,4-dione | KD | 4 nM | US-11623929: Spirocyclic compounds |
| N-methyl-1-(2-oxo-3,3a-dihydroimidazo[4,5-b]pyridin-6-yl)-2-propan-2-ylbenzimidazole-5-carboxamide | KD | 4 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-methyl-3-[1-(2-oxo-3,3a-dihydrobenzimidazol-5-yl)benzimidazol-2-yl]propanamide | KD | 4 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-(1-acetylpiperidin-4-yl)-N-methyl-2-oxo-3,5-dihydrobenzimidazole-5-carboxamide | KD | 4 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-(2-oxo-1,3,3a,4,5,6,7,7a-octahydroimidazo[4,5-b]pyridin-6-yl)-2,3-dihydroindole-1-carboxamide | KD | 4 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-(1-benzylpiperidin-4-yl)-2-oxo-1,3,3a,4,5,6,7,7a-octahydrobenzimidazole-5-carboxamide | KD | 4 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| (1R)-N-(2,6-dioxopiperidin-3-yl)-1,2,3,4-tetrahydronaphthalene-1-carboxamide | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-3,4-dihydro-2H-quinoline-1-carboxamide | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-3,4-dihydro-2H-1,8-naphthyridine-1-carboxamide | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| (1R)-N-[(3R)-2,6-dioxopiperidin-3-yl]-1,2,3,4-tetrahydronaphthalene-1-carboxamide | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]imidazo[1,5-a]pyridine-3-carboxamide | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| tert-butyl 3-[[(3S)-2,6-dioxopiperidin-3-yl]carbamoyl]-1-methyl-6,7-dihydro-4H-pyrazolo[4,3-c]pyridine-5-carboxylate | KD | 4 nM | US-11802131: Glutarimides for medical treatment |
| 6-(2-methyl-1,3-thiazol-5-yl)-1,6-dihydrobenzimidazol-2-one | KD | 5 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| 1-acetyl-N-(2-oxobenzimidazol-5-yl)piperidine-4-carboxamide | KD | 5 nM | US-11787802: Dihydrobenzimidazolones for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-3,4-dihydro-2H-chromene-4-carboxamide | KD | 5 nM | US-11802131: Glutarimides for medical treatment |
| N-[(3S)-2,6-dioxopiperidin-3-yl]-1-methyl-3,4-dihydro-2H-quinoline-4-carboxamide | KD | 5 nM | US-11802131: Glutarimides for medical treatment |
| N-(1-Acetyl-4-piperidyl)-2-oxo-3H-1,3-benzoxazole-6-carboxamide | KD | 6 nM | US-12528797: Heterocyclic compounds for medical treatment |
ChEMBL bioactivities
338 potent at pChembl≥5 of 507 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.61 | IC50 | 0.244 | nM | CHEMBL5178566 |
| 9.18 | IC50 | 0.667 | nM | CHEMBL4848064 |
| 9.00 | IC50 | 1 | nM | CHEMBL5084281 |
| 8.85 | IC50 | 1.41 | nM | CHEMBL4854720 |
| 8.85 | IC50 | 1.4 | nM | CHEMBL5270900 |
| 8.80 | IC50 | 1.57 | nM | CHEMBL5904309 |
| 8.70 | Kd | 2 | nM | CHEMBL5921578 |
| 8.52 | IC50 | 3 | nM | CHEMBL5078971 |
| 8.52 | Kd | 3 | nM | CHEMBL5754385 |
| 8.51 | IC50 | 3.09 | nM | CHEMBL4094346 |
| 8.49 | EC50 | 3.2 | nM | CHEMBL5172193 |
| 8.44 | IC50 | 3.62 | nM | CHEMBL5984956 |
| 8.40 | Kd | 4 | nM | CHEMBL5775791 |
| 8.31 | IC50 | 4.84 | nM | CHEMBL5797819 |
| 8.30 | IC50 | 5 | nM | CHEMBL6078355 |
| 8.22 | IC50 | 6.05 | nM | CHEMBL5856424 |
| 8.22 | Kd | 6 | nM | CHEMBL5966302 |
| 8.19 | IC50 | 6.41 | nM | CHEMBL5988642 |
| 8.15 | IC50 | 7.1 | nM | CHEMBL5276245 |
| 8.15 | Kd | 7 | nM | CHEMBL5772946 |
| 8.14 | IC50 | 7.3 | nM | CHEMBL5875774 |
| 8.14 | IC50 | 7.21 | nM | CHEMBL5938943 |
| 8.05 | IC50 | 9 | nM | CHEMBL5078004 |
| 8.05 | EC50 | 9 | nM | POMALIDOMIDE |
| 8.00 | IC50 | 10 | nM | CHEMBL5079426 |
| 8.00 | Kd | 10 | nM | CHEMBL6008645 |
| 8.00 | Kd | 10 | nM | CHEMBL5830320 |
| 7.99 | IC50 | 10.3 | nM | CHEMBL5757694 |
| 7.98 | IC50 | 10.4 | nM | CHEMBL5890447 |
| 7.97 | IC50 | 10.7 | nM | CHEMBL6060396 |
| 7.96 | IC50 | 11 | nM | CHEMBL5073414 |
| 7.96 | EC50 | 11 | nM | CHEMBL5183717 |
| 7.96 | IC50 | 11 | nM | CHEMBL5904309 |
| 7.92 | IC50 | 12.1 | nM | CHEMBL5786105 |
| 7.91 | IC50 | 12.4 | nM | CHEMBL5861696 |
| 7.90 | IC50 | 12.7 | nM | CHEMBL5741676 |
| 7.88 | IC50 | 13.2 | nM | CHEMBL5883980 |
| 7.85 | EC50 | 14 | nM | CHEMBL5201283 |
| 7.85 | IC50 | 14 | nM | CHEMBL4303781 |
| 7.83 | IC50 | 14.8 | nM | CHEMBL5899236 |
| 7.82 | IC50 | 15 | nM | CHEMBL5094191 |
| 7.82 | EC50 | 15 | nM | CHEMBL5208953 |
| 7.82 | IC50 | 15 | nM | CHEMBL5899236 |
| 7.82 | IC50 | 15.2 | nM | CHEMBL475060 |
| 7.82 | Kd | 15 | nM | CHEMBL5842876 |
| 7.80 | IC50 | 16 | nM | CHEMBL5084741 |
| 7.77 | EC50 | 17 | nM | CHEMBL5205527 |
| 7.77 | IC50 | 17 | nM | IBERDOMIDE |
| 7.77 | IC50 | 17.1 | nM | CHEMBL6005015 |
| 7.75 | IC50 | 18 | nM | CHEMBL4170596 |
PubChem BioAssay actives
156 with measured affinity, of 390 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (4S)-1-[4-[4-[3-[2-[2-[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]ethoxy]ethoxy]ethoxy]propanoyl]piperazin-1-yl]phenyl]-7,8-dimethoxy-N,4-dimethyl-4,5-dihydro-2,3-benzodiazepine-3-carboxamide | 1852448: Protac activity at His-tagged CRBN/FLAG-tagged DDB1 (unknown origin) in presence of Cy5-labeled thalidomide incubated for 60 min by TR-FRET assay | ic50 | 0.0002 | uM |
| (4S)-1-[4-[4-[5-[[2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]oxyacetyl]amino]pentanoyl]piperazin-1-yl]phenyl]-7,8-dimethoxy-N,4-dimethyl-4,5-dihydro-2,3-benzodiazepine-3-carboxamide | 1852448: Protac activity at His-tagged CRBN/FLAG-tagged DDB1 (unknown origin) in presence of Cy5-labeled thalidomide incubated for 60 min by TR-FRET assay | ic50 | 0.0007 | uM |
| 3-chloro-N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-4-methylbenzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0010 | uM |
| (4S)-1-[4-[4-[2-[2-[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]-2-oxoethoxy]ethoxy]acetyl]piperazin-1-yl]phenyl]-7,8-dimethoxy-N,4-dimethyl-4,5-dihydro-2,3-benzodiazepine-3-carboxamide | 1852448: Protac activity at His-tagged CRBN/FLAG-tagged DDB1 (unknown origin) in presence of Cy5-labeled thalidomide incubated for 60 min by TR-FRET assay | ic50 | 0.0014 | uM |
| N-(2-chloro-6-methylphenyl)-2-[[6-[4-[3-[[2-[4-(2,6-dioxopiperidin-3-yl)phenoxy]acetyl]amino]propyl]piperazin-1-yl]-2-methylpyrimidin-4-yl]amino]-1,3-thiazole-5-carboxamide | 1923057: Displacement of Cy5-O-Len from 6His-tagged CRBN/DDB1 (unknown origin) incubated for 1 hr under dark condition by fluorescence polarization assay | ic50 | 0.0014 | uM |
| N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]benzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0030 | uM |
| N-[3-tert-butyl-5-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]phenyl]acetamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0032 | uM |
| N-[3-(difluoromethyl)-1-[4-[[4-[3-[1-[(3S)-2,6-dioxopiperidin-3-yl]-3-methyl-2-oxobenzimidazol-4-yl]prop-2-ynoxy]piperidin-1-yl]methyl]cyclohexyl]pyrazol-4-yl]-5-[(1R,4R)-2-oxa-5-azabicyclo[2.2.1]heptan-5-yl]pyrazolo[1,5-a]pyrimidine-3-carboxamide | 2203528: Binding affinity to ZZ domain 6-His thrombin tagged CRBN (40 to 442 residues) (unknown origin)/DDB1 (1 to 1140 residues) (unknown origin) extracted from baculovirus expression system incubated for 60 mins in presence of Cy5-thalidomide probe by HTRF assay | ic50 | 0.0050 | uM |
| N-(2-chloro-6-methylphenyl)-2-[[6-[4-[4-[4-[4-(2,6-dioxopiperidin-3-yl)phenyl]piperazin-1-yl]-4-oxobutyl]piperazin-1-yl]-2-methylpyrimidin-4-yl]amino]-1,3-thiazole-5-carboxamide | 1923057: Displacement of Cy5-O-Len from 6His-tagged CRBN/DDB1 (unknown origin) incubated for 1 hr under dark condition by fluorescence polarization assay | ic50 | 0.0071 | uM |
| Pomalidomide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0090 | uM |
| N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-4-(trifluoromethoxy)benzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0090 | uM |
| N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-3-(trifluoromethoxy)benzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0100 | uM |
| N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-2-methylbenzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0110 | uM |
| N-[3-tert-butyl-5-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]oxyphenyl]acetamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0110 | uM |
| 4-(3-amino-5-tert-butylphenoxy)-2-(2,6-dioxopiperidin-3-yl)isoindole-1,3-dione | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0140 | uM |
| N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-2-(trifluoromethoxy)benzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0150 | uM |
| N-[3-tert-butyl-5-[[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]acetyl]amino]phenyl]-1-(2,5-dimethoxyphenyl)-5-methyltriazole-4-carboxamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0150 | uM |
| 3-chloro-N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]-2-methylbenzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0160 | uM |
| [3-tert-butyl-5-[[1-(2,5-dimethoxyphenyl)-5-methyltriazole-4-carbonyl]amino]phenyl] 2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]acetate | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0170 | uM |
| (3S)-3-[7-[[4-(morpholin-4-ylmethyl)phenyl]methoxy]-3-oxo-1H-isoindol-2-yl]piperidine-2,6-dione | 2023107: Displacement of Cy5-labeled tracer CC0782985 from 6His-tagged CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by TR-FRET assay | ic50 | 0.0170 | uM |
| 1-(3-chloro-4-methylphenyl)-3-[[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]methyl]urea | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0180 | uM |
| tert-butyl 6-[[3-(2,6-dioxopiperidin-3-yl)-1-methylindazol-6-yl]amino]-2-azaspiro[3.3]heptane-2-carboxylate | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0200 | uM |
| 3-chloro-N-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]benzenesulfonamide | 1814571: Displacement of Cy5-O-Len probe from 6XHis-tagged CRBN/DDB1 (unknown origin) incubated in dark for 1 hr by fluorescence polarization assay | ic50 | 0.0230 | uM |
| N-[3-tert-butyl-5-[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]ethoxy]phenyl]-1-(2,5-dimethoxyphenyl)-5-methyltriazole-4-carboxamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0230 | uM |
| N-[3-tert-butyl-5-[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]ethylamino]phenyl]-1-(2,5-dimethoxyphenyl)-5-methyltriazole-4-carboxamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0240 | uM |
| 3-[1-methyl-6-(piperidin-4-ylamino)indazol-3-yl]piperidine-2,6-dione | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0300 | uM |
| 4-[4-[[4-[[2-[(3S)-2,6-dioxopiperidin-3-yl]-1-oxo-3H-isoindol-4-yl]oxymethyl]phenyl]methyl]piperazin-1-yl]-3-fluorobenzonitrile | 1667521: Displacement of Cy5-conjugated CELMoD from N-terminal 6-His tagged CRBN (1 to 442 residues) (unknown origin)/DDB1 (1 to 1140 residues) (unknown origin) incubated for 10 mins by FRET assay | ic50 | 0.0300 | uM |
| N-[3-tert-butyl-5-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]oxyphenyl]-1-(2,5-dimethoxyphenyl)-5-methyltriazole-4-carboxamide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0310 | uM |
| Thalidomide | 1893698: Displacement of BODIPY FL thalidomide from 6His-tagged CRBN/DDB1 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 min under shaking condition followed by 60 mins incubation under dark condition by TR-FRET assay | ec50 | 0.0360 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[5-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]pentyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0366 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[6-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]hexyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0368 | uM |
| (3S)-3-[7-[[4-[[4-(2,4-difluorophenyl)piperazin-1-yl]methyl]phenyl]methoxy]-3-oxo-1H-isoindol-2-yl]piperidine-2,6-dione | 1667521: Displacement of Cy5-conjugated CELMoD from N-terminal 6-His tagged CRBN (1 to 442 residues) (unknown origin)/DDB1 (1 to 1140 residues) (unknown origin) incubated for 10 mins by FRET assay | ic50 | 0.0370 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[3-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]azetidin-1-yl]ethyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0375 | uM |
| tert-butyl 4-[[3-(2,6-dioxopiperidin-3-yl)-1-methylindazol-6-yl]amino]azepane-1-carboxylate | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0400 | uM |
| 2-[2-[[6-(hydroxymethyl)-2-pyridinyl]amino]-1,3-thiazol-4-yl]-N-(5-methyl-1,3-thiazol-2-yl)acetamide | 1895603: Molecular glue activity at human CDK12/CCNK (11 to 267 residues)/human DDB1-CUL4-RBX1 expressed in baculovirus expression system in human 293 TA cells assessed as CCNK protein degradation | ec50 | 0.0410 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[3-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]propyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0410 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[4-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]butyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0432 | uM |
| 3-[6-(1,4-dioxa-8-azaspiro[4.5]decan-8-yl)-1-methylindazol-3-yl]piperidine-2,6-dione | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0500 | uM |
| tert-butyl (3S)-3-[[3-(2,6-dioxopiperidin-3-yl)-1-methylindazol-6-yl]amino]pyrrolidine-1-carboxylate | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0500 | uM |
| N-(2-chloro-6-methylphenyl)-2-[[6-[4-[3-[[2-[4-(2,4-dioxo-1,3-diazinan-1-yl)phenoxy]acetyl]amino]propyl]piperazin-1-yl]-2-methylpyrimidin-4-yl]amino]-1,3-thiazole-5-carboxamide | 1923057: Displacement of Cy5-O-Len from 6His-tagged CRBN/DDB1 (unknown origin) incubated for 1 hr under dark condition by fluorescence polarization assay | ic50 | 0.0520 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[4-[[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]methyl]phenyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0524 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[4-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]piperidin-1-yl]ethyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0538 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[7-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]-2-azaspiro[3.5]nonan-2-yl]ethyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0538 | uM |
| 3-[7-[[4-[[4-(2,4-difluorophenyl)piperazin-1-yl]methyl]phenyl]methoxy]-3-oxo-1H-isoindol-2-yl]piperidine-2,6-dione | 1667521: Displacement of Cy5-conjugated CELMoD from N-terminal 6-His tagged CRBN (1 to 442 residues) (unknown origin)/DDB1 (1 to 1140 residues) (unknown origin) incubated for 10 mins by FRET assay | ic50 | 0.0551 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[9-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]-3-azaspiro[5.5]undecan-3-yl]ethyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0552 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[4-[[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]methyl]anilino]ethyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0571 | uM |
| 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[4-[4-[[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]methyl]anilino]butyl]acetamide | 2025620: Displacement of Cy5-labeled lenalidomide from N-terminal His-Avi-tagged full-length CRBN (1 to 442 residues)/DDB1 (1 to 1140 residues) (unknown origin) expressed in Tni(Hi5) insect cells measured after 40 mins by TR-FRET assay | ic50 | 0.0594 | uM |
| 3-[6-(benzylamino)-1-methylindazol-3-yl]piperidine-2,6-dione | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0600 | uM |
| tert-butyl 4-[[3-(2,6-dioxopiperidin-3-yl)-1-methylindazol-6-yl]amino]piperidine-1-carboxylate | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0700 | uM |
| tert-butyl 4-[3-(2,6-dioxopiperidin-3-yl)-1-methylindazol-6-yl]piperazine-1-carboxylate | 2251185: Binding affinity to 6-his tagged CRBN (1 to 442 residues)/ DDB1 (1 to 1140 residues) (unknown origin) incubated for 20 mins by time-resolved fluorescence probe displacement assay | ic50 | 0.0700 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | increases abundance, increases expression, decreases expression | 3 |
| Dronabinol | decreases expression, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | increases methylation, decreases expression, affects cotreatment | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Doxorubicin | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| pyrithione zinc | increases expression | 1 |
| beta-lapachone | increases expression, decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| antimony trichloride | decreases expression | 1 |
| usnic acid | affects cotreatment, decreases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| nutlin 3 | increases expression | 1 |
| (+)-JQ1 compound | affects binding | 1 |
| bisphenol AF | increases expression | 1 |
| Oxaliplatin | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Lenalidomide | affects binding | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases ubiquitination | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone | decreases expression | 1 |
| Diazinon | increases methylation | 1 |
ChEMBL screening assays
71 unique, capped per target: 71 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4219406 | Binding | Induction of CRBN/DDB1-mediated BRD4 protein degradation in human NCI-H661 cells assessed as drug level causing 50% cellular protein depletion incubated for 4 hrs by MSD assay | A “Click Chemistry Platform” for the Rapid Synthesis of Bispecific Molecules for Inducing Protein Degradation. — *J Med Chem* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for DDB1 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: White-Kernohan syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): syndromic intellectual disability, White-Kernohan syndrome