OCIAD1
gene geneOn this page
Also known as FLJ20455TPA018OCIAAsrij
Summary
OCIAD1 (OCIA domain containing 1, HGNC:16074) is a protein-coding gene on chromosome 4p11, encoding OCIA domain-containing protein 1 (Q9NX40). Maintains stem cell potency.
Predicted to be involved in several processes, including hematopoietic stem cell homeostasis; positive regulation of receptor signaling pathway via JAK-STAT; and regulation of stem cell differentiation. Located in membrane and mitochondrion.
Source: NCBI Gene 54940 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 56 total
- Druggable target: yes
- MANE Select transcript:
NM_017830
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16074 |
| Approved symbol | OCIAD1 |
| Name | OCIA domain containing 1 |
| Location | 4p11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20455, TPA018, OCIA, Asrij |
| Ensembl gene | ENSG00000109180 |
| Ensembl biotype | protein_coding |
| OMIM | 619596 |
| Entrez | 54940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 78 — 73 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000264312, ENST00000381473, ENST00000396448, ENST00000425583, ENST00000444354, ENST00000502972, ENST00000503016, ENST00000504654, ENST00000505922, ENST00000506801, ENST00000507210, ENST00000507546, ENST00000508293, ENST00000508329, ENST00000508996, ENST00000509122, ENST00000509164, ENST00000509246, ENST00000509664, ENST00000509963, ENST00000510824, ENST00000511102, ENST00000511662, ENST00000512236, ENST00000512981, ENST00000513391, ENST00000513641, ENST00000514981, ENST00000861192, ENST00000861193, ENST00000861194, ENST00000861195, ENST00000861196, ENST00000861197, ENST00000861198, ENST00000861199, ENST00000861200, ENST00000861201, ENST00000861202, ENST00000861203, ENST00000861204, ENST00000861205, ENST00000861206, ENST00000861207, ENST00000861208, ENST00000861209, ENST00000861210, ENST00000861211, ENST00000861212, ENST00000861213, ENST00000861214, ENST00000861215, ENST00000861216, ENST00000861217, ENST00000861218, ENST00000861219, ENST00000861220, ENST00000861221, ENST00000932595, ENST00000932596, ENST00000932597, ENST00000932598, ENST00000932599, ENST00000932600, ENST00000932601, ENST00000932602, ENST00000932603, ENST00000932604, ENST00000932605, ENST00000932606, ENST00000932607, ENST00000932608, ENST00000932609, ENST00000965896, ENST00000965897, ENST00000965898, ENST00000965899, ENST00000965900
RefSeq mRNA: 6 — MANE Select: NM_017830
NM_001079839, NM_001079840, NM_001079841, NM_001079842, NM_001168254, NM_017830
CCDS: CCDS3484, CCDS43228, CCDS47052
Canonical transcript exons
ENST00000264312 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288338 | 48851806 | 48851975 |
| ENSE00003474760 | 48833401 | 48833481 |
| ENSE00003489810 | 48860725 | 48861815 |
| ENSE00003516132 | 48849947 | 48850082 |
| ENSE00003555010 | 48832620 | 48832682 |
| ENSE00003633633 | 48842636 | 48842689 |
| ENSE00003784626 | 48857213 | 48857365 |
| ENSE00003788962 | 48848399 | 48848446 |
| ENSE00003904594 | 48831088 | 48831249 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 99.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 108.7265 / max 1193.9401, expressed in 1827 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47587 | 43.9024 | 1819 |
| 47588 | 30.9362 | 1814 |
| 47594 | 16.9106 | 1794 |
| 47589 | 6.6157 | 1734 |
| 47592 | 1.9814 | 1096 |
| 47586 | 1.6980 | 1034 |
| 47590 | 1.5714 | 1166 |
| 47596 | 1.5235 | 870 |
| 47595 | 1.1782 | 736 |
| 47597 | 0.8581 | 569 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.91 | gold quality |
| endothelial cell | CL:0000115 | 99.55 | gold quality |
| renal medulla | UBERON:0000362 | 99.42 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.40 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.37 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.31 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.31 | gold quality |
| pylorus | UBERON:0001166 | 99.30 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.30 | gold quality |
| nipple | UBERON:0002030 | 99.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.25 | gold quality |
| parietal lobe | UBERON:0001872 | 99.24 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.23 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.23 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.20 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.19 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.18 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.17 | gold quality |
| trachea | UBERON:0003126 | 99.17 | gold quality |
| upper arm skin | UBERON:0004263 | 99.16 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.15 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.14 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.14 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.13 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.13 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.10 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.10 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.08 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124858 | no | 257.57 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting OCIAD1, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
Literature-anchored findings (GeneRIF, showing 8)
- Over-expressed in metastatic ovarian cancer. Effect of OCIAD1 on cell adhesion may be related to its function in ovarian cancer. Possibility of OCIAD1’s role in tumor metastasis. (PMID:18328549)
- This is the first study to indicate that OCIAD1 is a key player in generating ovarian cancer recurrence. (PMID:20515946)
- OCIAD1 is a potential biomarker of thyroid carcinoma but had no significant additive effect on the risk of distant metastasis. (PMID:22081784)
- Like OCIAD1, OCIAD2 is a cancer-related protein and its expression level increases during the course of malignant progression and is thought to be a very useful marker for evaluating the malignancy of ovarian mucinous tumors. (PMID:22726067)
- high OCIAD1 levels in pancreatic ductal adenocarcinoma promoted tumor cells migration. OCIAD1 exerted its effects by regulating ATM (PMID:31221523)
- OCIAD1 contributes to neurodegeneration in Alzheimer’s disease by inducing mitochondria dysfunction, neuronal vulnerability and synaptic damages. (PMID:31931285)
- OCIAD1 is a host mitochondrial substrate of the hepatitis C virus NS3-4A protease. (PMID:32697788)
- Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells. (PMID:34034859)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ociad1 | ENSDARG00000052334 |
| danio_rerio | ENSDARG00000056677 | |
| mus_musculus | Ociad1 | ENSMUSG00000029152 |
| rattus_norvegicus | Ociad1 | ENSRNOG00000002205 |
| drosophila_melanogaster | asrij | FBGN0034793 |
Paralogs (1): OCIAD2 (ENSG00000145247)
Protein
Protein identifiers
OCIA domain-containing protein 1 — Q9NX40 (reviewed: Q9NX40)
Alternative names: Ovarian cancer immunoreactive antigen domain containing 1, Ovarian carcinoma immunoreactive antigen
All UniProt accessions (16): Q9NX40, D6R918, D6R9T5, D6RA54, D6RBC5, D6RBN5, D6RC55, D6RDI5, D6RDK1, D6RDK6, D6RF01, D6RF07, D6RG39, D6RI08, D6RIT9, D6RIV2
UniProt curated annotations — full annotation on UniProt →
Function. Maintains stem cell potency. Increases STAT3 phosphorylation and controls ERK phosphorylation. May act as a scaffold, increasing STAT3 recruitment onto endosomes. Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer.
Subunit / interactions. Interacts with OCIAD2. Interacts with STAT3.
Subcellular location. Endosome.
Tissue specificity. Isoform 1 is highly expressed in many tissues, including testis, brain, placenta, ovary, prostate and mammary gland. Isoform 2 expression is restricted to the central nervous system including brain, cerebellum and spinal cord.
Domain organisation. The OCIA domain is necessary and sufficient for endosomal localization.
Miscellaneous. ‘Asrij’ stands for ‘blood’ in Sanskrit as this protein is strongly expressed in blood vessels.
Similarity. Belongs to the OCIAD1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NX40-1 | 1, A | yes |
| Q9NX40-2 | 2, B | |
| Q9NX40-3 | 3 | |
| Q9NX40-4 | 4 |
RefSeq proteins (6): NP_001073308, NP_001073309, NP_001073310, NP_001073311, NP_001161726, NP_060300* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009764 | OCIA_dom | Domain |
| IPR040187 | OCAD1/2 | Family |
Pfam: PF07051
UniProt features (13 total): modified residue 4, splice variant 3, region of interest 2, compositionally biased region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NX40-F1 | 65.25 | 0.08 |
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): 108, 116, 123, 191
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 131 (showing top):
GCM_MAP4K4, GCM_GSPT1, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, WANG_LMO4_TARGETS_DN, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, chr4p11, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GCM_NF2, GOBP_STEM_CELL_DIFFERENTIATION, GOBP_IMPORT_INTO_CELL, DANG_BOUND_BY_MYC, GOBP_ENDOCYTOSIS, GOBP_REGULATION_OF_STEM_CELL_DIFFERENTIATION, GCM_PTK2
GO Biological Process (4): endocytosis (GO:0006897), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), hematopoietic stem cell homeostasis (GO:0061484), regulation of stem cell differentiation (GO:2000736)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), lysosome (GO:0005764), endosome (GO:0005768), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| endomembrane system | 2 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| cell surface receptor signaling pathway via JAK-STAT | 1 |
| regulation of receptor signaling pathway via JAK-STAT | 1 |
| positive regulation of receptor signaling pathway via STAT | 1 |
| homeostasis of number of cells | 1 |
| regulation of cell differentiation | 1 |
| stem cell differentiation | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1052 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OCIAD1 | ARF1 | P10947 | 604 |
| OCIAD1 | DCUN1D4 | Q92564 | 547 |
| OCIAD1 | SLAIN2 | Q9P270 | 527 |
| OCIAD1 | C18orf32 | Q8TCD1 | 496 |
| OCIAD1 | NFXL1 | Q6ZNB6 | 471 |
| OCIAD1 | COX18 | Q8N8Q8 | 449 |
| OCIAD1 | G3BP2 | Q9UN86 | 434 |
| OCIAD1 | FRYL | O94915 | 416 |
| OCIAD1 | SLC35F2 | Q8IXU6 | 399 |
| OCIAD1 | STAT3 | P40763 | 394 |
| OCIAD1 | CWH43 | Q9H720 | 392 |
| OCIAD1 | LRRC66 | Q68CR7 | 389 |
| OCIAD1 | DOLPP1 | Q86YN1 | 384 |
| OCIAD1 | TRUB2 | O95900 | 371 |
| OCIAD1 | UQCC5 | Q8WVI0 | 358 |
IntAct
157 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| EXOC8 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| SLC30A3 | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COG7 | ILVBL | psi-mi:“MI:0914”(association) | 0.640 |
| ASPH | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMD | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMLG | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM239 | OCIAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OCIAD1 | FKBP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| GNAS | CPT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SGSM1 | CETN2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| SYCE3 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
| UST | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| SLC6A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| OCIAD1 | ATF7 | psi-mi:“MI:0915”(physical association) | 0.520 |
| RALB | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| COG4 | MUL1 | psi-mi:“MI:0914”(association) | 0.500 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
BioGRID (549): OCIAD1 (Affinity Capture-RNA), OCIAD1 (Affinity Capture-RNA), OCIAD1 (Affinity Capture-RNA), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), OCIAD1 (Affinity Capture-RNA), PCBP1 (Co-fractionation), OCIAD1 (Proximity Label-MS), OCIAD1 (Affinity Capture-MS)
ESM2 similar proteins: A2AFR3, A6QLZ5, O08838, O94888, O95983, P0C6S7, P21580, P49418, P50478, Q05B58, Q08DU8, Q14161, Q14CM0, Q1RMZ1, Q32KN2, Q3KR37, Q3ZK22, Q497H0, Q5E948, Q5RD48, Q5REE1, Q5REY7, Q5RFL7, Q5U2M7, Q5UAK0, Q5ZIA0, Q5ZKA4, Q60769, Q66H91, Q6DC60, Q6ZPY2, Q7TQF7, Q7Z6G8, Q8BIZ1, Q8BR63, Q8BXK4, Q8IW50, Q8N108, Q8N128, Q8R3V6
Diamond homologs: A1A619, Q28GQ3, Q28X44, Q3SYY7, Q56VL3, Q5E948, Q5RD48, Q5XIG4, Q6NYD7, Q9CRD0, Q9D8W7, Q9NX40, Q9W1X9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 168 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 |
|---|---|---|---|
| Intra-Golgi traffic | 5 | 11.8× | 9e-03 |
| R-HSA-425366 | 6 | 9.9× | 8e-03 |
| Mitochondrial protein import | 6 | 9.2× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1997 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:48832683:G:GG | donor_gain | 1.0000 |
| 4:48832694:T:G | donor_gain | 1.0000 |
| 4:48832694:T:TG | donor_gain | 1.0000 |
| 4:48833391:T:A | acceptor_gain | 1.0000 |
| 4:48833482:G:GG | donor_gain | 1.0000 |
| 4:48842634:A:AG | acceptor_gain | 1.0000 |
| 4:48842635:G:GA | acceptor_gain | 1.0000 |
| 4:48842635:GCT:G | acceptor_gain | 1.0000 |
| 4:48842635:GCTGT:G | acceptor_gain | 1.0000 |
| 4:48842688:AG:A | donor_loss | 1.0000 |
| 4:48842689:GG:G | donor_loss | 1.0000 |
| 4:48842690:GT:G | donor_loss | 1.0000 |
| 4:48842691:T:A | donor_loss | 1.0000 |
| 4:48849940:A:AG | acceptor_gain | 1.0000 |
| 4:48849944:AAGTT:A | acceptor_gain | 1.0000 |
| 4:48849945:A:G | acceptor_gain | 1.0000 |
| 4:48860723:A:AG | acceptor_gain | 1.0000 |
| 4:48860724:G:GG | acceptor_gain | 1.0000 |
| 4:48831409:G:GT | donor_gain | 0.9900 |
| 4:48831409:G:T | donor_gain | 0.9900 |
| 4:48831430:GGGT:G | donor_gain | 0.9900 |
| 4:48831431:GGTG:G | donor_gain | 0.9900 |
| 4:48831444:G:T | donor_gain | 0.9900 |
| 4:48832698:G:GG | donor_gain | 0.9900 |
| 4:48833381:T:TA | acceptor_gain | 0.9900 |
| 4:48833392:G:A | acceptor_gain | 0.9900 |
| 4:48833395:A:AG | acceptor_gain | 0.9900 |
| 4:48833396:A:G | acceptor_gain | 0.9900 |
| 4:48833479:GAT:G | donor_gain | 0.9900 |
| 4:48842630:CTATA:C | acceptor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000013523 (4:48815479 C>T), RS1000062002 (4:48861820 G>A), RS1000166126 (4:48821867 A>G), RS1000247400 (4:48819426 A>C,G), RS1000263473 (4:48828407 G>C), RS1000317831 (4:48828189 T>C), RS1000423242 (4:48834352 A>G), RS1000826100 (4:48832408 C>G,T), RS1000880229 (4:48833996 A>T), RS1000882908 (4:48838965 C>G), RS1001030992 (4:48803529 G>A), RS1001091976 (4:48845373 A>G), RS1001166279 (4:48859682 C>G), RS1001239794 (4:48859254 T>C), RS1001244185 (4:48815110 G>A)
Disease associations
OMIM: gene MIM:619596 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007267_263 | Systolic blood pressure | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067371 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.22 | Kd | 6.036 | nM | CHEMBL3752910 |
| 8.22 | ED50 | 6.036 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149901: Binding affinity to human OCIAD1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0060 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Hydrogen Peroxide | increases expression, affects expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| methylparaben | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| bisphenol AF | increases 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 |
| Vorinostat | decreases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases expression | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | increases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652943 | Binding | Binding affinity to human OCIAD1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
8 cell lines: 4 embryonic stem cell, 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_9S74 | BJNhem20-OCIAD1-CRISPR-20 | Embryonic stem cell | Female |
| CVCL_AB54 | BJNhem20-OCIAD1-OV | Embryonic stem cell | Female |
| CVCL_B3D3 | Abcam HEK293T OCIAD1 KO | Transformed cell line | Female |
| CVCL_DQ66 | BJNhem20-OCIAD1-Tet-On | Embryonic stem cell | Female |
| CVCL_DQ69 | BJNhem20-OCIAD1-CRISPR-39 | Embryonic stem cell | Female |
| CVCL_TB57 | HAP1 OCIAD1 (-) 1 | Cancer cell line | Male |
| CVCL_XR26 | HAP1 OCIAD1 (-) 2 | Cancer cell line | Male |
| CVCL_XR27 | HAP1 OCIAD1 (-) 3 | 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.