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BRCC3 BRCA1/BRCA2-containing complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 79184, updated on 21-Jan-2020

Summary

Official Symbol
BRCC3provided by HGNC
Official Full Name
BRCA1/BRCA2-containing complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:24185
See related
Ensembl:ENSG00000185515 MIM:300617
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C6.1A; BRCC36; CXorf53
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]
Expression
Ubiquitous expression in colon (RPKM 4.9), esophagus (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See BRCC3 in Genome Data Viewer
Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155071403..155126766)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154299695..154351349)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FUN14 domain containing 2 Neighboring gene mature T cell proliferation 1 Neighboring gene C-X9-C motif containing 4 Neighboring gene int1h-2 recombination region Neighboring gene Sharpr-MPRA regulatory region 7862 Neighboring gene VHL binding protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Lys63-specific deubiquitinase activity TAS
Traceable Author Statement
more info
 
enzyme regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metallopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
histone H2A K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IDA
Inferred from Direct Assay
more info
PubMed 
response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction involved in G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
BRISC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BRISC complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lys-63-specific deubiquitinase BRCC36
Names
BRCA1-A complex subunit BRCC36
BRCA1/BRCA2-containing complex subunit 36
BRISC complex subunit BRCC36
NP_001018065.1
NP_001229569.1
NP_077308.1
XP_005274808.1
XP_016885327.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047184.1 RefSeqGene

    Range
    5001..56655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018055.2NP_001018065.1  lys-63-specific deubiquitinase BRCC36 isoform 2

    See identical proteins and their annotated locations for NP_001018065.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    BC002999, BP304352, BX293995, X64643
    Consensus CDS
    CCDS56612.1
    UniProtKB/Swiss-Prot
    P46736
    Related
    ENSP00000328641.7, ENST00000330045.11
    Conserved Domains (1) summary
    cd08068
    Location:13267
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex
  2. NM_001242640.1NP_001229569.1  lys-63-specific deubiquitinase BRCC36 isoform 3

    See identical proteins and their annotated locations for NP_001229569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK299194, BC002999, BP304352, BX293995
    Consensus CDS
    CCDS56610.1
    UniProtKB/Swiss-Prot
    P46736
    Related
    ENSP00000344103.4, ENST00000340647.8
    Conserved Domains (1) summary
    cd08068
    Location:13268
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex
  3. NM_024332.3NP_077308.1  lys-63-specific deubiquitinase BRCC36 isoform 1

    See identical proteins and their annotated locations for NP_077308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC002999, BP304352, BX293995
    Consensus CDS
    CCDS56611.1
    UniProtKB/Swiss-Prot
    P46736
    Related
    ENSP00000358474.1, ENST00000369462.5
    Conserved Domains (1) summary
    cd08068
    Location:13292
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    155071403..155126766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029838.1XP_016885327.1  lys-63-specific deubiquitinase BRCC36 isoform X1

    UniProtKB/Swiss-Prot
    P46736
    Related
    ENSP00000482836.1, ENST00000620502.4
    Conserved Domains (1) summary
    cd08068
    Location:13267
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex
  2. XM_005274751.4XP_005274808.1  lys-63-specific deubiquitinase BRCC36 isoform X2

    See identical proteins and their annotated locations for XP_005274808.1

    Conserved Domains (1) summary
    cd08068
    Location:13293
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex
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