Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BRCC3 contributors: mct/npt - updated : 12-05-2015
HGNC name BRCA1/BRCA2-containing complex, subunit 3
HGNC id 24185
Corresponding disease
MYMYX moyamoya angiopathy, syndromic
Location Xq28      Physical location : 154.299.709 - 154.351.348
Synonym name
  • chromosome X open reading frame 53
  • BRCA1/BRCA2-containing complex subunit 36
  • lys-63-specific deubiquitinase BRCC36
  • BRISC complex subunit BRCC36
  • Synonym symbol(s) C6.1A, BRCC36, CXorf53, RP11-143H17.2, BRISC
    EC.number 3.1.2.15
    DNA
    TYPE functioning gene
    STRUCTURE 51.65 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2937 36 316 - 2010 20656690
    11 splicing 2839 - 291 - 2010 20656690
    11 - 2880 - 292 - 2010 20656690
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • (JAB1/MPN/Mov34 metalloenzyme) domain (JAMM domain)
  • coiled-coil domains (to associate with FAM175A)
  • conjugated MetalloP
    HOMOLOGY
    interspecies ortholog to murine C6.1A
    Homologene
    FAMILY
  • JAMM/MPN(+) family of zinc metalloproteases
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text FAM175A functions as an adaptor of BRCC3 and regulates BRCC3 activity in the nucleus, FAM175B mainly localizes in cytosol and activates BRCC3 in the cytoplasm
    basic FUNCTION
  • implicated in ubiquitin E3 ligase complex that enhances cellular survival following DNA damage
  • zinc-dependent metalloproteases, that possesses DUB activity specifically for K63-Ub polyubiquitin chains
  • plays an important role in recruiting BRCA1 to DNA damage sites, as BRCC3 deficiency leads to decreased BRCA1 accumulation at DNA damage sites
  • regulates the abundance of Lys(63)-linked ubiquitin chains at chromatin
  • critical interactions required for the formation and function of BRCC3-containing DUB complexes
  • is a critical factor involved in TERF2-dependent telomere protection suggesting that an important physiological function of the BRCA1 complex is to maintain genomic stability aiding telomere associated proteins in maintaining telomere integrity
  • is an important regulator of the mitotic spindle assembly and cell division
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of Brca1 A complex, containing BRCA1/BARD1, FAM175A, UIMC1, and BRCC3, involved in response to DNA damage
  • component of UIMC1 complex, a five-member stoichiometric complex consisting of UIMC1, BRCC3, BRE, FAM175A, and MERIT40
  • member of BRCC3 isopeptidase complex (BRISC) with BRCC3, BRE, MERIT40, and FAM175B
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with another protein FAM175B, which shares significant sequence homology with FAM175A
  • is a critical regulator of NLRP3 activity by promoting its deubiquitination and characterizing NLRP3 as a substrate for the cytosolic BRCC3-containing BRISC complex
  • cell & other
    REGULATION
    activated by FAM175B which is sufficient to activate its deubiquitinating enzyme activity
    ASSOCIATED DISORDERS
    corresponding disease(s) MYMYX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrant expression in sporadic breast tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene to abnormal angiogenesis
    Marker
    Therapy target
    ANIMAL & CELL MODELS