DCAF11
gene geneOn this page
Also known as PRO2389GL014
Summary
DCAF11 (DDB1 and CUL4 associated factor 11, HGNC:20258) is a protein-coding gene on chromosome 14q12, encoding DDB1- and CUL4-associated factor 11 (Q8TEB1). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 80344 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 96 total
- Druggable target: yes
- MANE Select transcript:
NM_025230
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20258 |
| Approved symbol | DCAF11 |
| Name | DDB1 and CUL4 associated factor 11 |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRO2389, GL014 |
| Ensembl gene | ENSG00000100897 |
| Ensembl biotype | protein_coding |
| OMIM | 613317 |
| Entrez | 80344 |
Gene structure
Transcript identifiers
Ensembl transcripts: 56 — 40 protein_coding, 8 nonsense_mediated_decay, 5 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000326009, ENST00000396936, ENST00000396941, ENST00000446197, ENST00000557802, ENST00000557809, ENST00000557810, ENST00000557888, ENST00000557952, ENST00000558215, ENST00000558408, ENST00000558624, ENST00000558638, ENST00000558706, ENST00000558914, ENST00000559017, ENST00000559115, ENST00000559144, ENST00000559288, ENST00000559354, ENST00000559382, ENST00000559396, ENST00000559451, ENST00000559472, ENST00000559593, ENST00000559796, ENST00000560046, ENST00000560171, ENST00000560457, ENST00000560459, ENST00000560614, ENST00000560713, ENST00000560901, ENST00000561001, ENST00000561016, ENST00000561041, ENST00000561056, ENST00000561375, ENST00000905287, ENST00000905288, ENST00000905289, ENST00000905290, ENST00000905291, ENST00000905292, ENST00000905293, ENST00000905294, ENST00000905295, ENST00000905296, ENST00000905297, ENST00000905298, ENST00000933294, ENST00000933295, ENST00000942877, ENST00000942878, ENST00000942879, ENST00000942880
RefSeq mRNA: 3 — MANE Select: NM_025230
NM_001163484, NM_025230, NM_181357
CCDS: CCDS41929, CCDS9610
Canonical transcript exons
ENST00000446197 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002559286 | 24123175 | 24125242 |
| ENSE00003464930 | 24118055 | 24118155 |
| ENSE00003476473 | 24122971 | 24123077 |
| ENSE00003479718 | 24117266 | 24117393 |
| ENSE00003540353 | 24117668 | 24117732 |
| ENSE00003543280 | 24119711 | 24119896 |
| ENSE00003576413 | 24118750 | 24118804 |
| ENSE00003579784 | 24120838 | 24120991 |
| ENSE00003630948 | 24119145 | 24119213 |
| ENSE00003634941 | 24118388 | 24118534 |
| ENSE00003643117 | 24119559 | 24119616 |
| ENSE00003645282 | 24116917 | 24117044 |
| ENSE00003647074 | 24115382 | 24115749 |
| ENSE00003674788 | 24121365 | 24121517 |
| ENSE00003903184 | 24114777 | 24115293 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1331 / max 553.1543, expressed in 1820 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138976 | 15.5413 | 1812 |
| 138978 | 6.1840 | 1758 |
| 138979 | 3.5636 | 754 |
| 138977 | 0.8443 | 503 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 97.52 | gold quality |
| liver | UBERON:0002107 | 97.43 | gold quality |
| duodenum | UBERON:0002114 | 97.28 | gold quality |
| body of pancreas | UBERON:0001150 | 96.81 | gold quality |
| sural nerve | UBERON:0015488 | 96.33 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.05 | gold quality |
| pancreas | UBERON:0001264 | 95.98 | gold quality |
| blood | UBERON:0000178 | 95.89 | gold quality |
| granulocyte | CL:0000094 | 95.56 | gold quality |
| muscle of leg | UBERON:0001383 | 95.55 | gold quality |
| bone marrow | UBERON:0002371 | 95.46 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.38 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.13 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.06 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.01 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.89 | gold quality |
| adrenal gland | UBERON:0002369 | 94.75 | gold quality |
| muscle tissue | UBERON:0002385 | 94.73 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.69 | gold quality |
| tonsil | UBERON:0002372 | 94.66 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.66 | gold quality |
| bone marrow cell | CL:0002092 | 94.62 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.57 | gold quality |
| rectum | UBERON:0001052 | 94.48 | gold quality |
| frontal cortex | UBERON:0001870 | 94.31 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.24 | gold quality |
| gall bladder | UBERON:0002110 | 94.19 | gold quality |
| apex of heart | UBERON:0002098 | 94.14 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.12 | gold quality |
| lymph node | UBERON:0000029 | 94.00 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 45.22 |
| E-ANND-3 | yes | 6.15 |
| E-MTAB-6379 | no | 388.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting DCAF11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
Literature-anchored findings (GeneRIF, showing 9)
- Includes the functional characterization of a similar protein in C. elegans and comparison to the human protein. (PMID:19273594)
- CRL4(WDR23) is required for efficient histone mRNA 3’ end processing to produce mature histone mRNAs for translation. CRL4(WDR23) binds and ubiquitylates SLBP in vitro and in vivo, and this modification activates SLBP function in histone mRNA 3’ end processing without affecting its protein levels. (PMID:27203182)
- CRL4-DCAF11 mediates the degradation of SLBP at the end of S phase and this degradation is essential for the viability of cells. (PMID:27254819)
- Here, the authors demonstrated that CUL4B forms an E3 ligase with RBX1 (RING-box 1), DDB1 (DNA damage binding protein 1), and DCAF11 (DDB1 and CUL4 associated factor 11) that promotes the ubiquitination of p21(Cip1) and regulates cell cycle progression in human osteosarcoma cells. (PMID:28446751)
- ur results identify WDR23 as an alternative regulator of NRF2 proteostasis and uncover a cellular pathway that regulates NRF2 activity and capacity for cytoprotection independently of KEAP1. (PMID:28453520)
- results support a model in which the activation of the TNF-alpha/NF-kappaB axis contributes to an increase in CRL4B(DCAF)(11) activity and a decrease in p21(Cip1) protein levels, thereby controlling cell cycle progression in human osteosarcoma cells. (PMID:29377600)
- TFEB activates Nrf2 by repressing its E3 ubiquitin ligase DCAF11 and promoting phosphorylation of p62. (PMID:31586112)
- WDR23 regulates the expression of Nrf2-driven drug-metabolizing enzymes. (PMID:32839090)
- DCAF11 Supports Targeted Protein Degradation by Electrophilic Proteolysis-Targeting Chimeras. (PMID:33783207)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dcaf11 | ENSDARG00000009868 |
| mus_musculus | Dcaf11 | ENSMUSG00000022214 |
| rattus_norvegicus | Dcaf11 | ENSRNOG00000018825 |
| drosophila_melanogaster | CG9945 | FBGN0034527 |
| caenorhabditis_elegans | wdr-23 | WBGENE00008419 |
Protein
Protein identifiers
DDB1- and CUL4-associated factor 11 — Q8TEB1 (reviewed: Q8TEB1)
Alternative names: WD repeat-containing protein 23
All UniProt accessions (22): Q8TEB1, H0YKR8, H0YL29, H0YL64, H0YL98, H0YLB2, H0YLF1, H0YLH4, H0YLQ1, H0YLX7, H0YM56, H0YM86, H0YMF7, H0YMN6, H0YMZ4, H0YN03, H0YN15, H0YN21, H0YN92, H0YNK2, H0YNS2, H0YNT0
UniProt curated annotations — full annotation on UniProt →
Function. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Subunit / interactions. Interacts with DDB1 and CUL4A.
Pathway. Protein modification; protein ubiquitination.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TEB1-1 | 1 | yes |
| Q8TEB1-2 | 2 | |
| Q8TEB1-3 | 3 |
RefSeq proteins (3): NP_001156956, NP_079506, NP_852002 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR017399 | DCAF11/LEC14B | Family |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051859 | DCAF | Family |
Pfam: PF00400
UniProt features (20 total): repeat 7, sequence conflict 3, compositionally biased region 2, modified residue 2, splice variant 2, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TEB1-F1 | 83.30 | 0.65 |
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 (2): 75, 49
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 214 (showing top):
GOBP_MITOTIC_CYTOKINESIS, GOBP_MEMORY, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_COGNITION, GOBP_BEHAVIOR, GNF2_PRDX2, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_RESPIRATORY_SYSTEM_PROCESS, FOXO4_01, chr14q12, GNF2_ANK1, EVI1_05, GATA3_01, GOBP_CYTOKINESIS
GO Biological Process (9): respiratory system process (GO:0003016), response to oxidative stress (GO:0006979), memory (GO:0007613), gene expression (GO:0010467), protein ubiquitination (GO:0016567), exploration behavior (GO:0035640), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein stabilization (GO:0050821), cognition (GO:0050890)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleoplasm (GO:0005654), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| system process | 1 |
| respiratory gaseous exchange by respiratory system | 1 |
| response to stress | 1 |
| learning or memory | 1 |
| macromolecule biosynthetic process | 1 |
| protein modification by small protein conjugation | 1 |
| behavior | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| regulation of protein stability | 1 |
| nervous system process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
981 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCAF11 | DDB1 | Q16531 | 997 |
| DCAF11 | POU2F3 | Q9UKI9 | 940 |
| DCAF11 | CUL4A | Q13619 | 938 |
| DCAF11 | CUL4B | Q13620 | 811 |
| DCAF11 | NKRF | O15226 | 693 |
| DCAF11 | RBX1 | P62877 | 678 |
| DCAF11 | NEIL2 | Q969S2 | 635 |
| DCAF11 | GSTM2 | P28161 | 572 |
| DCAF11 | CUL3 | Q13618 | 495 |
| DCAF11 | KEAP1 | Q14145 | 491 |
| DCAF11 | DCAF1 | Q9Y4B6 | 487 |
| DCAF11 | HHAT | Q5VTY9 | 472 |
| DCAF11 | DCAF4 | Q8WV16 | 470 |
| DCAF11 | DCAF12 | Q5T6F0 | 467 |
| DCAF11 | DCAF8 | Q5TAQ9 | 467 |
IntAct
112 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEDD8 | UBE2M | psi-mi:“MI:0914”(association) | 0.940 |
| COPS2 | GPS1 | psi-mi:“MI:0914”(association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| DCAF11 | DDB1 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| ARL4C | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| DCAF11 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCAF11 | TNNI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCN1 | DCAF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AGR2 | DCAF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNNI2 | DCAF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (447): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Two-hybrid), DCAF11 (Reconstituted Complex), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Affinity Capture-MS), DCAF11 (Reconstituted Complex)
ESM2 similar proteins: A2AKB9, A2RRH5, A2RRU4, A2SXS5, A6QM06, O60346, O88559, P30291, P97260, Q08BB3, Q0P5I0, Q12770, Q3B7L5, Q3MHH0, Q3UHE1, Q4R3J7, Q5E9I8, Q5FW06, Q5M9G8, Q5MNU5, Q5QP82, Q5R7H5, Q5T6F0, Q5VW00, Q5ZJL7, Q63ZP7, Q69Z89, Q6AX81, Q6GQT6, Q6NS60, Q6NWH1, Q6P809, Q6ZWB6, Q8AVS9, Q8BGW4, Q8BGZ3, Q8CHE4, Q8NHY2, Q8QZS3, Q8TEB1
Diamond homologs: A8XEN7, O24467, O94394, P41318, P90794, Q1JQD2, Q40153, Q5E9I8, Q5M9G8, Q5R7H5, Q5XI13, Q6FLI3, Q7S8R5, Q810D6, Q8TEB1, Q91VU6, O14435, O14775, O43071, O45040, P17343, P23232, P26308, P40968, Q08706, Q54KL5, Q5GIS3, Q5RDY7, Q61ZF6, Q6DRF9, Q6PNB6, Q80ZD0, Q9LFE2, Q9SY00, A0A1W5T363, A5GFN6, A8WGF4, B5DG67, C5PFX0, G0SEA3
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DCAF11 | “down-regulates quantity by destabilization” | GEN1 | binding |
| DCAF11 | “up-regulates activity” | Cullin4-RBX1-DDB1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 103 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 | 12 | 48.9× | 2e-15 |
| Formation of TC-NER Pre-Incision Complex | 11 | 33.2× | 3e-12 |
| Cargo recognition for clathrin-mediated endocytosis | 9 | 13.5× | 2e-06 |
| Neddylation | 16 | 10.8× | 1e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 8 | 83.2× | 5e-12 |
| protein neddylation | 9 | 70.2× | 1e-12 |
| cellular response to UV | 5 | 16.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2214 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:24117254:T:TA | acceptor_gain | 1.0000 |
| 14:24117264:A:AG | acceptor_gain | 1.0000 |
| 14:24117264:AGT:A | acceptor_gain | 1.0000 |
| 14:24117264:AGTG:A | acceptor_gain | 1.0000 |
| 14:24117265:G:GG | acceptor_gain | 1.0000 |
| 14:24117265:GT:G | acceptor_gain | 1.0000 |
| 14:24117265:GTG:G | acceptor_gain | 1.0000 |
| 14:24117265:GTGG:G | acceptor_gain | 1.0000 |
| 14:24117265:GTGGA:G | acceptor_gain | 1.0000 |
| 14:24118378:A:AG | acceptor_gain | 1.0000 |
| 14:24118382:A:AG | acceptor_gain | 1.0000 |
| 14:24118383:C:G | acceptor_gain | 1.0000 |
| 14:24118383:CACA:C | acceptor_loss | 1.0000 |
| 14:24118384:A:AG | acceptor_gain | 1.0000 |
| 14:24118385:C:G | acceptor_gain | 1.0000 |
| 14:24118386:A:AG | acceptor_gain | 1.0000 |
| 14:24118386:A:C | acceptor_loss | 1.0000 |
| 14:24118387:G:GA | acceptor_gain | 1.0000 |
| 14:24118387:GA:G | acceptor_gain | 1.0000 |
| 14:24118387:GAC:G | acceptor_gain | 1.0000 |
| 14:24118387:GACC:G | acceptor_gain | 1.0000 |
| 14:24118387:GACCA:G | acceptor_gain | 1.0000 |
| 14:24118530:TTACA:T | donor_gain | 1.0000 |
| 14:24118531:TACA:T | donor_gain | 1.0000 |
| 14:24118532:ACA:A | donor_gain | 1.0000 |
| 14:24118533:CA:C | donor_gain | 1.0000 |
| 14:24118534:AG:A | donor_loss | 1.0000 |
| 14:24118535:G:C | donor_loss | 1.0000 |
| 14:24118535:GTGA:G | donor_gain | 1.0000 |
| 14:24118539:G:GG | donor_gain | 1.0000 |
AlphaMissense
3587 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:24118104:T:C | F176L | 1.000 |
| 14:24118106:C:A | F176L | 1.000 |
| 14:24118106:C:G | F176L | 1.000 |
| 14:24118400:G:C | R197P | 1.000 |
| 14:24118465:T:A | W219R | 1.000 |
| 14:24118465:T:C | W219R | 1.000 |
| 14:24118467:G:C | W219C | 1.000 |
| 14:24118467:G:T | W219C | 1.000 |
| 14:24118468:A:C | S220R | 1.000 |
| 14:24118470:C:A | S220R | 1.000 |
| 14:24118470:C:G | S220R | 1.000 |
| 14:24118472:T:A | V221D | 1.000 |
| 14:24118519:A:C | S237R | 1.000 |
| 14:24118521:C:A | S237R | 1.000 |
| 14:24118521:C:G | S237R | 1.000 |
| 14:24118522:T:A | W238R | 1.000 |
| 14:24118522:T:C | W238R | 1.000 |
| 14:24119170:T:C | F269L | 1.000 |
| 14:24119172:C:A | F269L | 1.000 |
| 14:24119172:C:G | F269L | 1.000 |
| 14:24119737:T:A | N311K | 1.000 |
| 14:24119737:T:G | N311K | 1.000 |
| 14:24119780:G:T | G326W | 1.000 |
| 14:24119781:G:A | G326E | 1.000 |
| 14:24119787:A:C | D328A | 1.000 |
| 14:24119787:A:T | D328V | 1.000 |
| 14:24119807:T:A | W335R | 1.000 |
| 14:24119807:T:C | W335R | 1.000 |
| 14:24120860:C:T | S372F | 1.000 |
| 14:24120864:C:A | N373K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000079743 (14:24116661 T>C,G), RS1000139909 (14:24113970 G>T), RS1000679395 (14:24118027 C>A,G,T), RS1000748812 (14:24124871 A>G), RS1000951440 (14:24124560 C>G), RS1000955429 (14:24116453 C>T), RS1001157784 (14:24122786 A>G), RS1001221193 (14:24123701 G>A), RS1002182016 (14:24115003 A>C,G), RS1002324166 (14:24121295 A>C), RS1002463611 (14:24116700 G>C), RS1002923296 (14:24114148 G>A,C), RS1003217224 (14:24116060 G>A,T), RS1003536574 (14:24120135 G>A), RS1003595601 (14:24116370 C>A)
Disease associations
OMIM: gene MIM:613317 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465399 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Ozone | affects cotreatment, decreases expression, increases abundance, affects expression | 3 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 2 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 2 |
| Air Pollutants | decreases expression, increases abundance, affects expression, affects cotreatment | 2 |
| Hydrogen Peroxide | affects expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| beta-lapachone | increases expression, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ON 01910 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
ChEMBL screening assays
26 unique, capped per target: 26 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5369322 | Binding | PROTAC activity at DCAF11/BRD4 in HEK293T cells assessed as reduction of protein degradation at 1 uM measured after 24 hrs relative to control | Unlocking DCAFs To Catalyze Degrader Development: An Arena for Innovative Approaches. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7NE | Ubigene A-549 DCAF11 KO | Cancer cell line | Male |
| CVCL_D9CZ | Ubigene HEK293 DCAF11 KO | Transformed cell line | Female |
| CVCL_E1V9 | HAP1 DCAF11 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.