Human Gene BRCC3 (ENST00000369462.5) from GENCODE V44
Description: Homo sapiens BRCA1/BRCA2-containing complex subunit 3 (BRCC3), transcript variant 1, mRNA. (from RefSeq NM_024332) RefSeq Summary (NM_024332): 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]. Gencode Transcript: ENST00000369462.5 Gencode Gene: ENSG00000185515.16 Transcript (Including UTRs) Position: hg38 chrX:155,071,503-155,123,074 Size: 51,572 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chrX:155,071,528-155,120,150 Size: 48,623 Coding Exon Count: 11
ID:BRCC3_HUMAN DESCRIPTION: RecName: Full=Lys-63-specific deubiquitinase BRCC36; EC=3.4.19.-; AltName: Full=BRCA1-A complex subunit BRCC36; AltName: Full=BRCA1/BRCA2-containing complex subunit 3; AltName: Full=BRCA1/BRCA2-containing complex subunit 36; AltName: Full=BRISC complex subunit BRCC36; FUNCTION: Metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not have activity toward 'Lys- 48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double- strand breaks (DSBs). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates. Mediates the specific 'Lys-63'- specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the BRISC complex with the CSN complex. SUBUNIT: Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas and BRE/BRCC45. Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. The BRISC complex interacts with the CSN complex. Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BRE and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. Interacts with BRCA1. Binds polyubiquitin. SUBCELLULAR LOCATION: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Aberrantly expressed in the vast majority of breast tumors. DISEASE: Note=A chromosomal aberration involving BRCC3 is a cause of pro-lymphocytic T-cell leukemia (T-PLL). Translocation t(X;14)(q28;q11) with TCRA. SIMILARITY: Belongs to the peptidase M67A family. BRCC36 subfamily. SIMILARITY: Contains 1 MPN (JAB/Mov34) domain. SEQUENCE CAUTION: Sequence=AAB29005.2; Type=Erroneous initiation; Sequence=CAO03573.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46736
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
