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 |
|---|---|---|---|---|---|
OMIM IDMIM:300617 Ensembl IDEnsembl:ENSG00000185515 HGNC IDHGNC:HGNC:24185 PHARMGKB IDPA134922847 Map LocationXq28 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BRCC3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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