C1D
gene geneOn this page
Also known as SUNCORSUN-CoRLRP1Rrp47
Summary
C1D (C1D nuclear receptor corepressor, HGNC:29911) is a protein-coding gene on chromosome 2p14, encoding Nuclear nucleic acid-binding protein C1D (Q13901). Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3’-5’ end processing of the 5.8S rRNA; this function may include MPHOSPH6. It is a selective cancer dependency (DepMap: 41.9% of cell lines).
The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.
Source: NCBI Gene 10438 — RefSeq curated summary.
At a glance
- Gene–disease (curated): keratosis pilaris atrophicans (Moderate, GenCC) — +4 more curated relationships
- GWAS associations: 60 (top 1% of genes corpus-wide)
- Clinical variants (ClinVar): 941 total — 5 pathogenic, 2 likely-pathogenic (top 3% of genes corpus-wide)
- GTEx eGene: eQTL in 20 tissues, sQTL in 2 (q < 0.05)
- Phenotypes (HPO): 43
- Cancer dependency (DepMap): dependent in 41.9% of screened cell lines
- Constraint (gnomAD): pLI 0.65 (intermediate), LOEUF 0.83 (unconstrained)
- MANE Select transcript:
NM_173177 - Notable: 941 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29911 |
| Approved symbol | C1D |
| Name | C1D nuclear receptor corepressor |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SUNCOR, SUN-CoR, LRP1, Rrp47 |
| Ensembl gene | ENSG00000197223 |
| Ensembl biotype | protein_coding |
| OMIM | 606997 |
| Entrez | 10438 |
Gene structure
Transcript identifiers
Ensembl transcripts: 53 — 45 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
MANE Select: ENST00000410067
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 3, TSL 5: 1
ENST00000410067, ENST00000355848, ENST00000407324, ENST00000409302, ENST00000470189, ENST00000479484, ENST00000485709, ENST00000871237, ENST00000871238, ENST00000871239, ENST00000871240, ENST00000871241, ENST00000871242, ENST00000871243, ENST00000871245, ENST00000871247, ENST00000871248, ENST00000937568, ENST00000937569, ENST00000937570, ENST00000937571, ENST00000941549, ENST00000941550, ENST00000941551, ENST00000941552, ENST00000999106, ENST00001021303, ENST00001021304, ENST00001071381, ENST00001071387, ENST00001071389, ENST00001071393, ENST00001104857, ENST00001104858, ENST00001104859, ENST00001104860, ENST00001104861, ENST00001104862, ENST00001104863, ENST00001104864, ENST00001104865, ENST00001104866, ENST00001104867, ENST00001104868, ENST00001104869, ENST00001104870, ENST00001104871, ENST00001104872, ENST00001104873, ENST00001104874, ENST00001104875, ENST00001104876, ENST00001104877
RefSeq mRNA: 4 — MANE Select: NM_173177
NM_001190263, NM_001190265, NM_006333, NM_173177
CCDS: CCDS1883
Canonical transcript exons
ENST00000410067 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000758730 | 68046344 | 68046410 |
| ENSE00001584845 | 68062958 | 68063004 |
| ENSE00001941177 | 68041130 | 68043053 |
| ENSE00003510538 | 68045988 | 68046043 |
| ENSE00003641475 | 68047173 | 68047319 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 94.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0742 / max 234.7217, expressed in 1695 samples.
Highest expression (Bgee): islet of Langerhans, monocyte, leukocyte, bone marrow, endometrium.
Genetic regulation across tissues (GTEx eQTL / sQTL)
C1D is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 20 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 22 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Whole Blood | eqtl | 2.1e-13 | -0.48 | 2:68063060:T:C |
| Artery Tibial | eqtl | 1.5e-07 | +0.19 | 2:68043126:C:T |
| Thyroid | eqtl | 7.9e-07 | +0.22 | 2:68043126:C:T |
| Breast Mammary Tissue | eqtl | 1.1e-05 | +0.24 | 2:68043126:C:T |
| Artery Aorta | eqtl | 2.2e-05 | +0.21 | 2:68046965:T:C |
| Cells Cultured fibroblasts | eqtl | 5.9e-05 | +0.38 | 2:68067194:T:C |
| Esophagus Muscularis | eqtl | 7.2e-05 | -0.67 | 2:68044552:C:CA |
| Adipose Visceral Omentum | eqtl | 9.6e-05 | +0.23 | 2:68043126:C:T |
| Nerve Tibial | eqtl | 4.1e-04 | +0.36 | 2:68067194:T:C |
| Adipose Subcutaneous | eqtl | 6.1e-04 | +0.19 | 2:68043126:C:T |
| Testis | eqtl | 1.2e-02 | +0.41 | 2:68067194:T:C |
| Pituitary | eqtl | 1.4e-02 | +0.23 | 2:68041574:A:C |
| Cells EBV-transformed lymphocytes | eqtl | 1.7e-02 | -0.48 | 2:68046864:G:A |
| Brain Frontal Cortex BA9 | eqtl | 1.7e-02 | +0.14 | 2:68319317:G:A |
| Esophagus Mucosa | eqtl | 1.7e-02 | -0.53 | 2:68930261:G:A |
| Muscle Skeletal | eqtl | 1.9e-02 | +0.12 | 2:68043126:C:T |
| Lung | eqtl | 2.2e-02 | +0.16 | 2:68057310:T:C |
| Pituitary | sqtl | 2.6e-02 | -0.68 | 2:68755744:T:C |
| Prostate | eqtl | 2.7e-02 | +0.22 | 2:68043126:C:T |
| Skin Not Sun Exposed Suprapubic | sqtl | 2.9e-02 | -0.47 | 2:68445007:C:A |
FANTOM5 promoters
1 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28838 | 6.0742 | 1695 |
Top tissues by expression
showing 100 of 133 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 94.20 | gold quality |
| monocyte | CL:0000576 | 93.53 | gold quality |
| leukocyte | CL:0000738 | 93.23 | gold quality |
| bone marrow | UBERON:0002371 | 91.85 | gold quality |
| endometrium | UBERON:0001295 | 91.59 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.52 | gold quality |
| muscle of leg | UBERON:0001383 | 91.39 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.28 | gold quality |
| vagina | UBERON:0000996 | 91.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.87 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.56 | gold quality |
| muscle tissue | UBERON:0002385 | 90.45 | gold quality |
| lymph node | UBERON:0000029 | 90.30 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.29 | gold quality |
| right uterine tube | UBERON:0001302 | 90.26 | gold quality |
| bone marrow cell | CL:0002092 | 90.20 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.20 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.14 | gold quality |
| placenta | UBERON:0001987 | 89.99 | gold quality |
| tibial artery | UBERON:0007610 | 89.87 | gold quality |
| popliteal artery | UBERON:0002250 | 89.86 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.85 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.79 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.76 | gold quality |
| adrenal gland | UBERON:0002369 | 89.68 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.57 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.49 | gold quality |
| duodenum | UBERON:0002114 | 89.44 | gold quality |
| right lung | UBERON:0002167 | 89.44 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.41 | gold quality |
| tonsil | UBERON:0002372 | 89.40 | gold quality |
| ascending aorta | UBERON:0001496 | 89.38 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.34 | gold quality |
| pancreas | UBERON:0001264 | 89.33 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.16 | gold quality |
| frontal cortex | UBERON:0001870 | 89.12 | gold quality |
| left coronary artery | UBERON:0001626 | 89.11 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.95 | gold quality |
| heart left ventricle | UBERON:0002084 | 88.90 | gold quality |
| omental fat pad | UBERON:0010414 | 88.81 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.81 | gold quality |
| hypothalamus | UBERON:0001898 | 88.70 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 88.70 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.68 | gold quality |
| heart | UBERON:0000948 | 88.59 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.44 | gold quality |
| adipose tissue | UBERON:0001013 | 88.40 | gold quality |
| fallopian tube | UBERON:0003889 | 88.37 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.27 | gold quality |
| spleen | UBERON:0002106 | 88.26 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.26 | gold quality |
| body of uterus | UBERON:0009853 | 88.22 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.21 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.18 | gold quality |
| rectum | UBERON:0001052 | 88.16 | gold quality |
| ovary | UBERON:0000992 | 88.11 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.08 | gold quality |
| prostate gland | UBERON:0002367 | 88.08 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.07 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.05 | gold quality |
| left ovary | UBERON:0002119 | 88.05 | gold quality |
| right coronary artery | UBERON:0001625 | 88.03 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.03 | gold quality |
| thyroid gland | UBERON:0002046 | 88.01 | gold quality |
| putamen | UBERON:0001874 | 87.95 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.95 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.93 | gold quality |
| multicellular organism | UBERON:0000468 | 87.91 | gold quality |
| myometrium | UBERON:0001296 | 87.91 | gold quality |
| gall bladder | UBERON:0002110 | 87.87 | gold quality |
| brain | UBERON:0000955 | 87.86 | gold quality |
| kidney | UBERON:0002113 | 87.86 | gold quality |
| substantia nigra | UBERON:0002038 | 87.79 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.79 | gold quality |
| amygdala | UBERON:0001876 | 87.78 | gold quality |
| liver | UBERON:0002107 | 87.73 | gold quality |
| uterine cervix | UBERON:0000002 | 87.66 | gold quality |
| tibial nerve | UBERON:0001323 | 87.65 | gold quality |
| body of stomach | UBERON:0001161 | 87.61 | gold quality |
| ectocervix | UBERON:0012249 | 87.57 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.56 | gold quality |
| Ammon’s horn | UBERON:0001954 | 87.55 | gold quality |
| temporal lobe | UBERON:0001871 | 87.54 | gold quality |
| lung | UBERON:0002048 | 87.50 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.49 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 87.48 | gold quality |
| granulocyte | CL:0000094 | 87.45 | gold quality |
| right ovary | UBERON:0002118 | 87.42 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.41 | gold quality |
| body of pancreas | UBERON:0001150 | 87.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.24 | gold quality |
| colon | UBERON:0001155 | 87.23 | gold quality |
| cortex of kidney | UBERON:0001225 | 87.23 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.22 | gold quality |
| lower esophagus | UBERON:0013473 | 87.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.20 | gold quality |
| intestine | UBERON:0000160 | 87.20 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.87 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 158 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Hippocampus | tissue | 171.8 | medium |
| Nucleus accumbens | tissue | 169.0 | |
| Locus coeruleus | tissue | 159.6 | |
| Spinal cord | tissue | 159.5 | |
| Choroid plexus | tissue | 141.8 | |
| Superior colliculi | tissue | 139.5 | |
| Postcentral gyrus | tissue | 132.4 | |
| Medulla oblongata | tissue | 129.9 | |
| Substantia nigra | tissue | 126.2 | |
| Thalamus | tissue | 121.5 | |
| Hypothalamus | tissue | 117.1 | |
| Midbrain | tissue | 113.8 | |
| Pons | tissue | 110.8 | |
| Putamen | tissue | 109.0 | |
| Basal ganglia | tissue | 108.3 | medium |
| Hippocampal formation | tissue | 106.9 | |
| Periaqueductal gray | tissue | 104.1 | |
| Cerebral cortex | tissue | 103.9 | medium |
| Somatosensory cortex | tissue | 103.9 | |
| Adipose tissue | tissue | 102.4 | medium |
| Ventral forebrain | tissue | 100.8 | |
| Septum | tissue | 99.1 | |
| Entorhinal cortex | tissue | 97.5 | |
| Motor cortex | tissue | 94.8 | |
| Amygdala | tissue | 94.0 | |
| Temporal cortex | tissue | 92.6 | |
| Insular cortex | tissue | 91.6 | |
| Cerebellum | tissue | 91.0 | low |
| Occipital cortex | tissue | 89.9 | |
| Prefrontal cortex | tissue | 86.4 | |
| Retrosplenial and cingulate cortex | tissue | 86.1 | |
| Retrosplenial cortex | tissue | 84.9 | |
| Corpus callosum | tissue | 71.6 | |
| Olfactory bulb | tissue | 71.5 | |
| Ovary | tissue | 52.2 | medium |
| Bone marrow | tissue | 45.4 | low |
| Skeletal muscle | tissue | 44.0 | low |
| Placenta | tissue | 37.5 | medium |
| Hippocampal formation | tissue | 36.3 | |
| Caudate putamen | tissue | 36.0 | |
| Frontal cortex | tissue | 33.0 | |
| Liver | tissue | 32.8 | medium |
| Caudate putamen | tissue | 32.3 | |
| Frontal cortex | tissue | 32.0 | |
| Liver | tissue | 31.2 | low |
| Lung | tissue | 30.7 | high |
| Cervix | tissue | 29.9 | not detected |
| Tongue | tissue | 29.8 | |
| Gallbladder | tissue | 29.5 | low |
| Kidney | tissue | 29.4 | medium |
| Putamen | tissue | 29.0 | |
| Vagina | tissue | 28.4 | not detected |
| Appendix | tissue | 27.4 | not detected |
| Smooth muscle | tissue | 27.0 | not detected |
| Pons | tissue | 25.5 | |
| Thalamus | tissue | 25.0 | |
| Cerebral cortex | tissue | 24.7 | low |
| Motor cortex | tissue | 24.7 | |
| Prefrontal cortex | tissue | 24.4 | |
| Urinary bladder | tissue | 23.8 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 382; highest nTPM — Anterior thalamic nucleus, ventral (249.8), Area postrema (238.3), Posterior thalamic nucleus (222.2), Habenula (220.2), Inferior olive (217.2).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting C1D by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 44 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-1284 | 99.67 | 73.56 | 1353 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-569 | 99.42 | 66.32 | 1009 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
Functional genomics
gnomAD constraint: pLI 0.647, LOEUF 0.826, missense Z 0.237 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000410067 — one region, missense o/e 0.85.
DepMap (CRISPR cell-line fitness): dependent in 41.9% of screened cell lines.
Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): NB-1 (-1.819), FaDu (-1.427), PE/CA-PJ34 (clone C12) (-1.226), KP-N-SI9s (-1.178), SIMA (-1.128), SK-N-AS (-1.122), HEC-50B (-1.078), EW8 (-1.073), UW228 (-1.069), 769-P (-1.068), LU99 (-1.065), SCS-214 (-1.06), SNU-C5 (-1.026), PC-3 (-1.021), 639-V (-1.018).
Literature-anchored findings (GeneRIF, showing 6)
- TRAX enhances the DNA binding capacity of Translin, that binds to recombination regions in some malignancies. C1D interacts with TRAX following g-irradiation and prevents formation of TRAX/Translin complex, thereby inhibits any unwanted recombination. (PMID:11801738)
- Results are consistent with a role for the exosome-associated protein C1D in the recruitment of the exosome to pre-rRNA to mediate the 3’ end processing of the 5.8S rRNA. (PMID:17412707)
- Anti-C1D autoantibodies were observed in patients with polymyositis-scleroderma overlap syndrome. (PMID:17599775)
- C1D is associated with the DNA repair complex and may promote repair of ultraviolet irradiation-induced DNA damage. (PMID:20530579)
- Data confirm that C1D is not directly involved in repair of UV-damaged DNA; C1D appears to protects cells from oxidative stress (induced by UV irradiation or hydrogen peroxide oxidation) by regulating expression of DNA repair/transcription enzymes such as APEX1 or DDIT3. (C1D = nuclear receptor corepressor C1D; APEX1 = apurinic/apyrimidinic endodeoxyribonuclease-1; DDIT3 = DNA damage inducible transcript-3) (PMID:30165670)
- The C1D protein interacts with the catalytic subunit of DNA-PK and is a very effective substrate for DNA-PK in vitro. Moreover, C1D directs the activation of DNA-PK in a manner that does not require DNA termini, suggesting a role for C1D in DNA repair. (PMID:9679063)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | c1d | ENSDARG00000021112 |
| mus_musculus | C1d | ENSMUSG00000000581 |
| rattus_norvegicus | C1d | ENSRNOG00000005982 |
| caenorhabditis_elegans | WBGENE00021785 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1927354) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| increased circulating serum albumin level | 1 |
| preweaning lethality, complete penetrance | 1 |
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 |
|---|---|---|---|
| Pongo abelii | Q5RBU4 | 99.3% | Diamond |
| Bos taurus | Q32PE4 | 98.6% | Diamond |
| Cricetulus griseus | Q7TSU0 | 95.7% | Diamond |
| Gallus gallus | Q5ZHS3 | 78.9% | Diamond |
| Xenopus laevis | Q3KPR1 | 74.0% | Diamond |
| Schizosaccharomyces pombe 972h- | O74469 | 36.0% | 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 |
|---|---|---|
| LINC02831 | ncRNA | 102724373 |
| DNAAF10 | protein-coding | 116143 |
| LINC01812 | ncRNA | 101927701 |
Protein
Protein identifiers
Nuclear nucleic acid-binding protein C1D — Q13901 (reviewed: Q13901)
All UniProt accessions (2): Q13901, J3KPZ4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3’-5’ end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB.
Subunit / interactions. Monomer and homodimer. Interacts with NR1D1, THRA, THRB, NCOR1 and NCOR2. Associates with the RNA exosome complex. Interacts with EXOSC10; the interaction probably mediates the association with the nuclear form of the RNA exosome. The homodimeric form interacts with TSNAX following gamma-radiation. Interacts with RAC3.
Subcellular location. Nucleus. Cytoplasm. Nucleolus.
Tissue specificity. Ubiquitous. Expressed at very high levels in the hippocampus, medulla oblongata, mammary gland, thyroid and salivary gland. Expressed at high levels in the fetal; lung, liver and kidney. Expressed at low levels in skeletal muscle, appendix, heart, lung and colon.
Post-translational modifications. Phosphorylated by PRKDC.
Induction. By gamma-radiation.
Similarity. Belongs to the C1D family.
RefSeq proteins (4): NP_001177192, NP_001177194, NP_006324, NP_775269* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007146 | Sas10/Utp3/C1D | Family |
| IPR011082 | Exosome-assoc_fac/DNA_repair | Family |
Pfam: PF04000
UniProt features (9 total): region of interest 3, cross-link 3, chain 1, sequence variant 1, sequence conflict 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13901-F1 | 88.37 | 0.67 |
Human Protein Atlas
Protein class: CD markers, Transporters, Predicted membrane proteins, Predicted intracellular proteins, Plasma proteins, Candidate cardiovascular disease genes, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Congenital malformations of skin
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): plasma membrane; cytosol; nucleoli
Antibody reliability (HPA): IH supported · IF supported
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 (3)
| Type | Positions |
|---|---|
| Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2) | 119, 126, 132 |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 6; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
6 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol | curated |
| R-HSA-9930044 | Nuclear RNA decay | curated |
| R-HSA-8953854 | Metabolism of RNA | — |
| R-HSA-9938024 | Somatic hypermutation of immunoglobulin genes | electronic |
| R-HSA-72312 | rRNA processing | — |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol | — |
MSigDB gene sets: 723 (showing top):
GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, RNGTGGGC_UNKNOWN, GOBP_RIBOSOME_BIOGENESIS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, HORIUCHI_WTAP_TARGETS_DN, TAATAAT_MIR126, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_LYSOSOMAL_TRANSPORT, PAX4_01, TGCGCANK_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, NKX25_02
GO Biological Process (6): maturation of 5.8S rRNA (GO:0000460), DNA-templated transcription (GO:0006351), apoptotic process (GO:0006915), regulation of gene expression (GO:0010468), rRNA processing (GO:0006364), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (5): DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), nuclear receptor binding (GO:0016922), protein binding (GO:0005515)
GO Cellular Component (7): nuclear exosome (RNase complex) (GO:0000176), exosome (RNase complex) (GO:0000178), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), transcription repressor complex (GO:0017053)
Reactome top-level categories
4 top-level categories:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| rRNA processing in the nucleus and cytosol | 1 |
| Affinity selection of immunoglobulins | 1 |
| rRNA processing | 1 |
GO top-level categories
28 GO namespaces:
| Category | Terms |
|---|---|
| nuclear lumen | 3 |
| gene expression | 2 |
| nucleic acid binding | 2 |
| intracellular anatomical structure | 2 |
| cellular anatomical structure | 2 |
| rRNA processing | 1 |
| RNA biosynthetic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| RNA polymerase II-specific DNA-binding transcription factor binding | 1 |
| binding | 1 |
| exosome (RNase complex) | 1 |
| nucleus | 1 |
| nuclear protein-containing complex | 1 |
| exoribonuclease complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| transcription regulator complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 18 annotations. The rest are phylogenetic / computational / electronic (IEA).
4 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| maturation of 5.8S rRNA | BP | mutant phenotype |
| nucleolus | CC | direct assay |
| nucleoplasm | CC | direct assay |
| RNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,552 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| C1D | EXOSC10 | Q01780 | 847 |
| C1D | MTREX | P42285 | 832 |
| C1D | DIS3 | Q9Y2L1 | 774 |
| C1D | EXOSC1 | Q9Y3B2 | 768 |
| C1D | EXOSC5 | Q9NQT4 | 767 |
| C1D | EXOSC3 | Q9NQT5 | 753 |
| C1D | ZCCHC7 | Q8N3Z6 | 751 |
| C1D | EXOSC9 | Q06265 | 735 |
| C1D | EXOSC8 | Q96B26 | 734 |
| C1D | EXOSC7 | Q15024 | 727 |
| C1D | EXOSC4 | Q9NPD3 | 712 |
| C1D | UTP3 | Q9NQZ2 | 709 |
| C1D | EXOSC6 | Q5RKV6 | 706 |
| C1D | CFAP221 | Q4G0U5 | 701 |
| C1D | EXOSC2 | Q13868 | 693 |
IntAct
Human interaction partners of C1D in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
18 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| EXOSC10 | physical association | 0.730 | 5 |
| SH3GLB1 | physical association | 0.720 | 6 |
| ZFC3H1 | association | 0.640 | 3 |
| HTT | physical association | 0.560 | 6 |
| CASP6 | physical association | 0.560 | 3 |
| GSC2 | physical association | 0.560 | 3 |
| HIP1 | physical association | 0.560 | 3 |
| IL23R | physical association | 0.560 | 3 |
| LAMP2 | physical association | 0.560 | 3 |
| RAN | physical association | 0.560 | 3 |
| SUOX | physical association | 0.560 | 3 |
| WFS1 | physical association | 0.560 | 3 |
| ZGPAT | physical association | 0.560 | 3 |
| H2BC12L | physical association | 0.400 | 1 |
| RPL12 | physical association | 0.400 | 1 |
| E6 | physical association | 0.370 | 1 |
| PCBD2 | physical association | 0.370 | 1 |
| PRPH | association | 0.350 | 1 |
BioGRID (105 interactions; top human partners by supporting records): EXOSC5 (Affinity Capture-MS; 5 records), EXOSC1 (Affinity Capture-MS; 4 records), EXOSC10 (Affinity Capture-MS; 4 records), PRKDC (Two-hybrid; 4 records), EXOSC2 (Affinity Capture-MS; 3 records), EXOSC3 (Affinity Capture-MS; 3 records), EXOSC7 (Affinity Capture-MS; 3 records), EXOSC8 (Affinity Capture-MS; 3 records), EXOSC9 (Affinity Capture-MS; 3 records), MPHOSPH6 (Affinity Capture-MS; 3 records), RBM7 (Affinity Capture-MS; 3 records), DIS3 (Affinity Capture-MS; 2 records), EXOSC4 (Affinity Capture-MS; 2 records), EXOSC6 (Affinity Capture-MS; 2 records), NCOR1 (Reconstituted Complex; 2 records)
SIGNOR signaling
1 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| C1D | “up-regulates activity” | NR1D1 | binding |
Protein complexes (CORUM) (1)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
1 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| C1D homodimer | 1 | C1D |
Disease & clinical
Genetic variants
Variant evidence for C1D: 941 ClinVar records (7 pathogenic / likely pathogenic); 60 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
941 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 2 |
| Uncertain significance | 546 |
| Likely benign | 196 |
| Benign | 83 |
Top pathogenic / likely-pathogenic (7)
Showing all 7 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 |
|---|---|---|---|---|
| 1321297 | NM_002332.3(LRP1):c.4966+1G>T | Likely pathogenic | criteria provided, single submitter | 1 |
| 4917361 | NM_002332.3(LRP1):c.10346-2A>T | Likely pathogenic | criteria provided, single submitter | 1 |
| 132834 | NM_002332.3(LRP1):c.3734A>G (p.Lys1245Arg) | Pathogenic | no assertion criteria provided | 2 |
| 2691743 | NM_002332.3(LRP1):c.5347C>T (p.Arg1783Trp) | Pathogenic | no assertion criteria provided | 1 |
| 2691744 | NM_002332.3(LRP1):c.6386C>A (p.Thr2129Lys) | Pathogenic | no assertion criteria provided | 1 |
| 2691745 | NM_002332.3(LRP1):c.670C>G (p.Pro224Ala) | Pathogenic | no assertion criteria provided | 1 |
| 2691746 | NM_002332.3(LRP1):c.2798-4C>A | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore C1D’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; 48 predictions of 6,885):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 12:57138457–57138458 | acceptor_loss | 1.0000 | 6 |
| 12:57138582–57138583 | donor_loss | 1.0000 | 5 |
| 12:57141372–57141373 | acceptor_loss | 1.0000 | 5 |
| 12:57141512–57141513 | donor_loss | 1.0000 | 4 |
| 12:57143674–57143676 | acceptor_gain | 1.0000 | 2 |
| 12:57143677–57143678 | acceptor_loss | 1.0000 | 5 |
| 12:57143799–57143800 | donor_loss | 1.0000 | 5 |
| 12:57144970–57144971 | acceptor_loss | 1.0000 | 6 |
| 12:57145491–57145492 | donor_loss | 1.0000 | 4 |
| 12:57154477–57154478 | acceptor_loss | 1.0000 | 6 |
AlphaMissense
307 missense substitutions predicted likely pathogenic (of 927 scored), across 83 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 |
|---|---|---|---|
| M94 | 9 | 0.898 | 0.980 |
| H81 | 8 | 0.898 | 0.987 |
| D56 | 8 | 0.876 | 0.951 |
| W68 | 7 | 0.982 | 0.997 |
| E86 | 7 | 0.967 | 0.993 |
| F67 | 7 | 0.913 | 0.980 |
| F117 | 7 | 0.883 | 0.991 |
| N64 | 7 | 0.866 | 0.993 |
| D110 | 7 | 0.813 | 0.862 |
| E13 | 7 | 0.763 | 0.881 |
| R89 | 6 | 0.957 | 0.995 |
| R116 | 6 | 0.947 | 0.980 |
| K84 | 6 | 0.944 | 0.991 |
| P78 | 6 | 0.891 | 0.986 |
| W123 | 6 | 0.845 | 0.927 |
| F21 | 6 | 0.769 | 0.912 |
| P11 | 6 | 0.764 | 0.848 |
| G75 | 5 | 0.976 | 0.992 |
| R91 | 5 | 0.974 | 0.988 |
| Y61 | 5 | 0.969 | 0.992 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
5 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 2.28e-06 |
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.000257 |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 0.000404 |
| Kidney Renal Clear Cell Carcinoma (validation) | favorable | 0.000598 |
| Ovary Serous Cystadenocarcinoma (validation) | unfavorable | 0.000723 |
Disease associations
OMIM: gene MIM:606997 | disease phenotypes: MIM:209700, MIM:620690
GenCC curated gene-disease
5 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| developmental dysplasia of the hip 3 | Moderate | Autosomal dominant | 2 |
| keratosis pilaris atrophicans | Moderate | Autosomal recessive | 2 |
| keratosis follicularis spinulosa decalvans | Supportive | Autosomal dominant | |
| atrophoderma vermiculata | Supportive | Autosomal recessive | |
| schizophrenia | Limited | Unknown |
Mondo (6): atrophoderma vermiculata (MONDO:0008849), keratosis pilaris (MONDO:0021036), developmental dysplasia of the hip 3 (MONDO:0958037), schizophrenia (MONDO:0005090), keratosis pilaris atrophicans (MONDO:0018855), keratosis follicularis spinulosa decalvans (MONDO:0000136)
Orphanet (2): Ulerythema ophryogenesis (Orphanet:3406), Atrophoderma vermiculata (Orphanet:79100)
HPO phenotypes
43 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000290 | Abnormal forehead morphology |
| HP:0000306 | Abnormality of the chin |
| HP:0000464 | Abnormality of the neck |
| HP:0000498 | Blepharitis |
| HP:0000504 | Abnormality of vision |
| HP:0000509 | Conjunctivitis |
| HP:0000561 | Absent eyelashes |
| HP:0000613 | Photophobia |
| HP:0000653 | Sparse eyelashes |
| HP:0000708 | Atypical behavior |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000989 | Pruritus |
| HP:0001041 | Facial erythema |
| HP:0001047 | Atopic dermatitis |
| HP:0001067 | Neurofibroma |
| HP:0001075 | Atrophic scars |
| HP:0001131 | Corneal dystrophy |
| HP:0001249 | Intellectual disability |
| HP:0001374 | Congenital hip dislocation |
| HP:0002287 | Progressive alopecia |
| HP:0003274 | Hypoplastic acetabulae |
| HP:0003593 | Infantile onset |
| HP:0004426 | Abnormal cheek morphology |
| HP:0004552 | Scarring alopecia of scalp |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0007515 | Hypoplastic pilosebaceous units |
| HP:0008404 | Nail dystrophy |
| HP:0009926 | Epiphora |
| HP:0010783 | Erythema |
| HP:0011124 | Abnormal epidermal morphology |
| HP:0012531 | Pain |
| HP:0012722 | Heart block |
| HP:0025084 | Folliculitis |
| HP:0025249 | Comedo |
| HP:0031285 | Abnormal perifollicular morphology |
| HP:0032152 | Keratosis pilaris |
| HP:0045059 | Hyperkeratotic papule |
| HP:0045075 | Sparse eyebrow |
| HP:0100276 | Skin pit |
| HP:0100277 | Periauricular skin pits |
| HP:0200034 | Papule |
GWAS associations
showing 30 of 60 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010002_69 | Refractive error | 6e-174 |
| GCST005042_4 | Restless legs syndrome | 1e-58 |
| GCST003720_1 | Migraine | 6e-49 |
| GCST005337_1 | Headache | 5e-47 |
| GCST003986_1 | Migraine | 6e-36 |
| GCST009798_35 | Asthma | 3e-29 |
| GCST008916_32 | Asthma | 1e-27 |
| GCST007431_136 | Lung function (FEV1/FVC) | 7e-21 |
| GCST002081_59 | Migraine | 4e-19 |
| GCST90000025_289 | Appendicular lean mass | 5e-17 |
| GCST007995_40 | Asthma (childhood onset) | 7e-17 |
| GCST003721_7 | Migraine without aura | 4e-16 |
| GCST007938_4 | Medication use (anilides) | 9e-16 |
| GCST002216_29 | Triglycerides | 9e-14 |
| GCST004232_9 | HDL cholesterol levels | 1e-13 |
| GCST004237_44 | Triglyceride levels | 1e-13 |
| GCST010722_3 | Spontaneous coronary artery dissection | 1e-13 |
| GCST002223_21 | HDL cholesterol | 2e-13 |
| GCST004861_90 | Itch intensity from mosquito bite | 3e-13 |
| GCST007939_8 | Medication use (antimigraine preparations) | 3e-13 |
| GCST002539_88 | Schizophrenia | 2e-12 |
| GCST003983_23 | Male-pattern baldness | 6e-12 |
| GCST006803_21 | Schizophrenia | 3e-11 |
| GCST002078_9 | Migraine without aura | 1e-10 |
| GCST003987_20 | Asthma | 1e-10 |
| GCST007430_95 | Peak expiratory flow | 3e-10 |
| GCST000758_12 | Triglycerides | 4e-10 |
| GCST004521_134 | Autism spectrum disorder or schizophrenia | 4e-10 |
| GCST001312_1 | Abdominal aortic aneurysm | 5e-10 |
| GCST005575_34 | Moyamoya disease | 8e-10 |
EFO canonical traits (from GWAS)
17 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0003892 | pulmonary function measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0006944 | systolic blood pressure change measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0006953 | family history of lung cancer |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009718 | peak expiratory flow |
| EFO:0009938 | Anilide use measurement |
| EFO:0009939 | Antimigraine preparation use measurement |
| EFO:1002011 | adult onset asthma |
| EFO:0004340 | body mass index |
| EFO:0004462 | PR interval |
| EFO:0010820 | spontaneous coronary artery dissection |
| EFO:0008343 | sex interaction measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors
1 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537412 | Burnett Schwartz Berberian syndrome *(supp.)* |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
PharmGKB variant annotations
Per-publication pharmacogenomic findings for this gene (significant associations).
2 published findings:
| Variant | Drug(s) | Category | Finding | PMID |
|---|---|---|---|---|
| rs1800139 | warfarin | Dosage | Genotype TT is associated with increased dose of warfarin in people with heart valve replacement as compared to genotypes CC + CT. | PMID:33094665 |
| rs1800154 | warfarin | Dosage | Genotype CC is associated with increased dose of warfarin in people with heart valve replacement as compared to genotypes CT + TT. | PMID:33094665 |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases abundance, decreases expression, affects expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| thifluzamide | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Antimycin A | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Bilirubin | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Gold | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Piroxicam | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1LR | Abcam HeLa C1D KO | Cancer cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 600 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | Phase 4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | Phase 4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | Phase 4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | Phase 4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | Phase 4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | Phase 4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | Phase 4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | Phase 4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | Phase 4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | Phase 4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | Phase 4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | Phase 4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | Phase 4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | Phase 4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | Phase 4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | Phase 4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | Phase 4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | Phase 4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | Phase 4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | Phase 4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | Phase 4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | Phase 4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | Phase 4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | Phase 4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | Phase 4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | Phase 4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | Phase 4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | Phase 4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | Phase 4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | Phase 4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | Phase 4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | Phase 4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | Phase 4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | Phase 4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | Phase 4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | Phase 4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | Phase 4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | Phase 4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | Phase 4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | Phase 4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
| NCT00177580 | Phase 4 | COMPLETED | Improving Symptoms of Schizophrenia and Schizoaffective Disorder by Supplementing Medications With Pravastatin |
| NCT00182442 | Phase 4 | COMPLETED | Cognition, Functioning and Quality of Life |
| NCT00182494 | Phase 4 | UNKNOWN | Diabetes Prevention Program in Schizophrenia [DPPS] |
| NCT00183625 | Phase 4 | COMPLETED | Supported Employment and Skills Training in Conjunction With Pharmacotherapy in Schizophrenia Patients |
| NCT00186771 | Phase 4 | UNKNOWN | Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia |
| NCT00190749 | Phase 4 | COMPLETED | Safety Study of Olanzapine and a Comparator in Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00191555 | Phase 4 | COMPLETED | Efficacy Study of Switching Stabilized Schizophrenic Patients From Conventional to Atypical Antipsychotic Treatment |
| NCT00194025 | Phase 4 | COMPLETED | Valproate in Late Life Schizophrenia |
| NCT00199940 | Phase 4 | COMPLETED | Safety And Efficacy Study Of Ziprasidone In Pediatric Psychotic Illness |
| NCT00202306 | Phase 4 | COMPLETED | Indicated Prevention of Psychotic Disorders With Low-dose Lithium |
| NCT00203788 | Phase 4 | COMPLETED | Improving Work Outcome in People With Recent-onset Schizophrenia |
| NCT00204061 | Phase 4 | COMPLETED | Early Pharmacological and Psychological Intervention for Late Prodromal States of Psychosis |
| NCT00205660 | Phase 4 | COMPLETED | Changes in Adiposity, Metabolic Measures From Atypicals to Aripiprazole |
| NCT00206102 | Phase 4 | COMPLETED | A Study of the Cataractogenic Potential of Seroquel and Risperdal in the Treatment of Participants With Schizophrenia or Schizoaffective Disorder |
| NCT00208143 | Phase 4 | COMPLETED | Seroquel Therapy for Substance Use Disorders Comorbid With Schizophrenia |
| NCT00208169 | Phase 4 | COMPLETED | Abilify Therapy for Reducing Comorbid Substance Abuse |
| NCT00214578 | Phase 4 | COMPLETED | Seroquel on Glucose Metabolism |
| NCT00215579 | Phase 4 | COMPLETED | Determining the Effects of Risperdal Consta in Patients With Psychotic Disorders and Incomplete Adherence |
| NCT00216528 | Phase 4 | COMPLETED | A Study to Evaluate Symptomatic Remission in Schizophrenia With Long Acting Risperidone Microspheres |
| NCT00216632 | Phase 4 | COMPLETED | A Study of Treatment Success in Changing From Olanzapine to Long-acting Injectable Risperidone (RISPERDAL® CONSTA™) |
Related Atlas pages
- Associated diseases: developmental dysplasia of the hip 3, schizophrenia, keratosis pilaris atrophicans, keratosis follicularis spinulosa decalvans, atrophoderma vermiculata
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): abdominal aortic aneurysm, androgenetic alopecia, antiphospholipid syndrome, atrophoderma vermiculata, cervical artery dissection, developmental dysplasia of the hip 3, keratosis follicularis spinulosa decalvans, keratosis pilaris, keratosis pilaris atrophicans, migraine disorder, migraine without aura, susceptibility to, 4, Moyamoya disease, neuromuscular disease, restless legs syndrome, schizophrenia, tricuspid atresia, ventricular septal defect