BRCC3
Summary: This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| BRCA1/BRCA2-containing complex subunit 3 | MIM:300617 | Ensembl:ENSG00000185515 | HGNC:HGNC:24185 | PA134922847 | Xq28 |
GO terms in BRCC3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004843 | thiol-dependent ubiquitin-specific protease activity |
| MF | IMP | GO:0004843 | thiol-dependent ubiquitin-specific protease activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008237 | metallopeptidase activity |
| MF | IMP | GO:0008237 | metallopeptidase activity |
| MF | IDA | GO:0030234 | enzyme regulator activity |
| MF | IBA | GO:0031593 | polyubiquitin modification-dependent protein binding |
| MF | IDA | GO:0031593 | polyubiquitin modification-dependent protein binding |
| MF | IBA | GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity |
| MF | IMP | GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | TAS | GO:0061578 | Lys63-specific deubiquitinase activity |
| CC | IDA | GO:0000151 | ubiquitin ligase complex |
| CC | IDA | GO:0000152 | nuclear ubiquitin ligase complex |
| CC | IEA | GO:0000922 | spindle pole |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0070531 | BRCA1-A complex |
| CC | IDA | GO:0070531 | BRCA1-A complex |
| CC | IBA | GO:0070552 | BRISC complex |
| CC | IDA | GO:0070552 | BRISC complex |
| BP | IBA | GO:0006281 | DNA repair |
| BP | IBA | GO:0006302 | double-strand break repair |
| BP | IMP | GO:0006302 | double-strand break repair |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IEA | GO:0007049 | cell cycle |
| BP | IDA | GO:0010165 | response to X-ray |
| BP | IMP | GO:0010212 | response to ionizing radiation |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IMP | GO:0045739 | positive regulation of DNA repair |
| BP | IEA | GO:0050790 | regulation of catalytic activity |
| BP | IEA | GO:0051301 | cell division |
| BP | IBA | GO:0070536 | protein K63-linked deubiquitination |
| BP | IDA | GO:0070536 | protein K63-linked deubiquitination |
| BP | IMP | GO:0070536 | protein K63-linked deubiquitination |
| BP | IBA | GO:0070537 | histone H2A K63-linked deubiquitination |
| BP | IDA | GO:0070537 | histone H2A K63-linked deubiquitination |
| BP | IMP | GO:0070537 | histone H2A K63-linked deubiquitination |
| BP | IMP | GO:0072425 | signal transduction involved in G2 DNA damage checkpoint |
Gene expression in normal tissue: BRCC3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BRCC3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689901 | Metalloprotease DUBs |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD126 | Tipifarnib | 5 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD64 | Parbendazole | 6 |
| iGMDRD60 | Quinoclamine | 1 |
| iGMDRD888 | Compound 44 | 10 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD562 | Navitoclax | 9 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD871 | BRD6368 | 4 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD872 | BRD7137 | 1 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD255 | SB225002 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BRCC3
CLASSFICATION
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