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

Gene ID: 79184, updated on 4-Jan-2025

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; AllianceGenome:HGNC:24185
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
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Genomic context

See BRCC3 in Genome Data Viewer
Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155071508..155123077)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153307916..153359479)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154299783..154351352)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21121 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154255797-154256700 Neighboring gene FUN14 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30074 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154299323-154300044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:154300045-154300766 Neighboring gene mature T cell proliferation 1 Neighboring gene C-X9-C motif containing 4 Neighboring gene int1h-2 recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154425831-154426332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154426333-154426832 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154444390-154445178 Neighboring gene VHL binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21125 Neighboring gene RAB39B, member RAS oncogene family

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in DNA repair-dependent chromatin remodeling PubMed 
involved_in cell division  
involved_in cellular response to ionizing radiation PubMed 
involved_in double-strand break repair  
involved_in double-strand break repair PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling PubMed 
involved_in mitotic G2/M transition checkpoint PubMed 
involved_in positive regulation of DNA repair PubMed 
involved_in positive regulation of NLRP3 inflammasome complex assembly PubMed 
involved_in positive regulation of NLRP3 inflammasome complex assembly  
involved_in protein K63-linked deubiquitination PubMed 
involved_in protein K63-linked deubiquitination PubMed 
involved_in protein deubiquitination  
involved_in proteolysis  
involved_in regulation of DNA damage checkpoint PubMed 
involved_in regulation of DNA repair PubMed 
acts_upstream_of_or_within response to X-ray PubMed 
involved_in response to ionizing radiation PubMed 
Component Evidence Code Pubs
part_of BRCA1-A complex  
part_of BRCA1-A complex PubMed 
part_of BRCA1-A complex PubMed 
part_of BRISC complex  
part_of BRISC complex PubMed 
located_in cytoplasm PubMed 
located_in cytosol  
part_of nuclear ubiquitin ligase complex PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
located_in nucleus PubMed 
located_in nucleus PubMed 
located_in spindle pole  
part_of ubiquitin ligase complex 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_054183838.1

NCBI Reference Sequences (RefSeq)

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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
    5089..56658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018055.3NP_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
    Related
    ENSP00000328641.7, ENST00000330045.12
    Conserved Domains (1) summary
    cd08068
    Location:13267
    MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex
  2. NM_001242640.2NP_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_024332.4NP_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
    A6QRF8, A6QRF9, A8MUX5, A8MWH0, A9Z1Y0, A9Z1Y5, B1B062, B4DQN7, P46736, Q16107, Q53YX5, Q9BTZ6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    155071508..155123077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274751.5XP_005274808.1  lys-63-specific deubiquitinase BRCC36 isoform X1

    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153307916..153359479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327863.1XP_054183838.1  lys-63-specific deubiquitinase BRCC36 isoform X1

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