Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BRCC3 Gene

Aliases for BRCC3 Gene

  • BRCA1/BRCA2-Containing Complex, Subunit 3 2 3
  • BRCC36 3 4 6
  • BRCA1/BRCA2-Containing Complex Subunit 36 3 4
  • BRCA1-A Complex Subunit BRCC36 3 4
  • BRISC Complex Subunit BRCC36 3 4
  • CXorf53 3 4
  • C6.1A 3 4
  • BRCA1/BRCA2-Containing Complex Subunit 3 4
  • Lys-63-Specific Deubiquitinase BRCC36 3
  • Chromosome X Open Reading Frame 53 2
  • Lys-63-Specific Deubiquitinase 2
  • EC 3.1.2.15 64
  • EC 3.4.19.- 4

External Ids for BRCC3 Gene

Previous Symbols for BRCC3 Gene

  • CXorf53

Summaries for BRCC3 Gene

Entrez Gene Summary for BRCC3 Gene

  • 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]

GeneCards Summary for BRCC3 Gene

BRCC3 (BRCA1/BRCA2-Containing Complex, Subunit 3) is a Protein Coding gene. Diseases associated with BRCC3 include moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism. GO annotations related to this gene include ubiquitin thiolesterase activity and ubiquitin-specific protease activity.

UniProtKB/Swiss-Prot for BRCC3 Gene

  • 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.

Gene Wiki entry for BRCC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRCC3 Gene

Genomics for BRCC3 Gene

Genomic Location for BRCC3 Gene

Start:
155,071,420 bp from pter
End:
155,123,074 bp from pter
Size:
51,655 bases
Orientation:
Plus strand

Genomic View for BRCC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BRCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRCC3 Gene

Regulatory Elements for BRCC3 Gene

Proteins for BRCC3 Gene

  • Protein details for BRCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46736-BRCC3_HUMAN
    Recommended name:
    Lys-63-specific deubiquitinase BRCC36
    Protein Accession:
    P46736
    Secondary Accessions:
    • A6QRF8
    • A6QRF9
    • A8MUX5
    • A8MWH0
    • A9Z1Y0
    • A9Z1Y5
    • B1B062
    • B4DQN7
    • Q16107
    • Q53YX5
    • Q9BTZ6

    Protein attributes for BRCC3 Gene

    Size:
    316 amino acids
    Molecular mass:
    36072 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAB29005.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAO03573.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BRCC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRCC3 Gene

Proteomics data for BRCC3 Gene at MOPED

Post-translational modifications for BRCC3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys51, Lys65, and Lys180

Domains for BRCC3 Gene

Protein Domains for BRCC3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

BRCC3_HUMAN
Domain:
  • Contains 1 MPN (JAB/Mov34) domain.:
    • P46736
Family:
  • Belongs to the peptidase M67A family. BRCC36 subfamily.:
    • P46736
genes like me logo Genes that share domains with BRCC3: view

No data available for Gene Families for BRCC3 Gene

Function for BRCC3 Gene

Molecular function for BRCC3 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for BRCC3 Gene

Gene Ontology (GO) - Molecular Function for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity IMP 19261746
GO:0005515 protein binding IPI 14636569
GO:0008237 metallopeptidase activity IMP 17525341
GO:0030234 enzyme regulator activity IDA 14636569
genes like me logo Genes that share ontologies with BRCC3: view

miRNA for BRCC3 Gene

miRTarBase miRNAs that target BRCC3

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for BRCC3 Gene

Localization for BRCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRCC3 Gene

Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRCC3 Gene COMPARTMENTS Subcellular localization image for BRCC3 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 14636569
GO:0000152 nuclear ubiquitin ligase complex IDA 14636569
GO:0005634 nucleus IDA 19202061
GO:0005654 nucleoplasm IDA --
GO:0070531 BRCA1-A complex IDA 17525341
genes like me logo Genes that share ontologies with BRCC3: view

Pathways for BRCC3 Gene

SuperPathways for BRCC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006302 double-strand break repair IMP 17525341
GO:0006508 proteolysis --
GO:0010165 response to X-ray IDA 14636569
GO:0010212 response to ionizing radiation IMP 17525341
GO:0031572 G2 DNA damage checkpoint IMP 17525341
genes like me logo Genes that share ontologies with BRCC3: view

No data available for Pathways by source for BRCC3 Gene

Transcripts for BRCC3 Gene

Unigene Clusters for BRCC3 Gene

BRCA1/BRCA2-containing complex, subunit 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BRCC3 Gene

No ASD Table

Relevant External Links for BRCC3 Gene

GeneLoc Exon Structure for
BRCC3
ECgene alternative splicing isoforms for
BRCC3

Expression for BRCC3 Gene

mRNA expression in normal human tissues for BRCC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BRCC3 Gene

SOURCE GeneReport for Unigene cluster for BRCC3 Gene Hs.558537

mRNA Expression by UniProt/SwissProt for BRCC3 Gene

P46736-BRCC3_HUMAN
Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Aberrantly expressed in the vast majority of breast tumors.
genes like me logo Genes that share expressions with BRCC3: view

Orthologs for BRCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BRCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRCC3 36
  • 99.79 (n)
  • 99.68 (a)
cow
(Bos Taurus)
Mammalia BRCC3 36
  • 91.76 (n)
  • 97.49 (a)
BRCC3 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRCC3 36
  • 93.99 (n)
  • 98.42 (a)
BRCC3 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brcc3 36
  • 90.2 (n)
  • 95.7 (a)
Brcc3 16
Brcc3 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRCC3 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRCC3 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brcc3 36
  • 81.48 (n)
  • 91.4 (a)
chicken
(Gallus gallus)
Aves BRCC3 36
  • 75.51 (n)
  • 85.3 (a)
BRCC3 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRCC3 37
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13095 36
tropical clawed frog
(Silurana tropicalis)
Amphibia brcc3 36
  • 72.31 (n)
  • 85.04 (a)
zebrafish
(Danio rerio)
Actinopterygii brcc3 37
  • 75 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06820 36
  • 57.78 (n)
  • 58 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4817 36
rice
(Oryza sativa)
Liliopsida Os.14093 36
Os05g0542600 36
  • 56.78 (n)
  • 52.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3578 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.679 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 60 (a)
OneToOne
Species with no ortholog for BRCC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for BRCC3 Gene

ENSEMBL:
Gene Tree for BRCC3 (if available)
TreeFam:
Gene Tree for BRCC3 (if available)

Paralogs for BRCC3 Gene

Selected SIMAP similar genes for BRCC3 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for BRCC3 Gene

genes like me logo Genes that share paralogs with BRCC3: view

No data available for Paralogs for BRCC3 Gene

Variants for BRCC3 Gene

Sequence variations from dbSNP and Humsavar for BRCC3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs10194 -- 155,122,975(+) catga(A/G)tcttt utr-variant-3-prime
rs895744 -- 155,117,516(+) AGGCG(G/T)TTACT intron-variant
rs895745 -- 155,117,934(+) GGGGG(A/G)AAATA intron-variant
rs965691 -- 155,079,932(+) CCATG(A/G)TACAT intron-variant
rs1063369 -- 155,120,107(+) ACAAC(A/C)AGAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BRCC3 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
esv29815 CNV Gain 19812545
nsv518251 CNV Gain 19592680
esv1011078 CNV Deletion 20482838

Relevant External Links for BRCC3 Gene

HapMap Linkage Disequilibrium report
BRCC3
Human Gene Mutation Database (HGMD)
BRCC3

Disorders for BRCC3 Gene

UniProtKB/Swiss-Prot

BRCC3_HUMAN
  • 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.
genes like me logo Genes that share disorders with BRCC3: view

Publications for BRCC3 Gene

  1. The chromosomal translocation t(X;14)(q28;q11) in T-cell pro- lymphocytic leukaemia breaks within one gene and activates another. (PMID: 8247530) Fisch P. … Rabbitts T.H. (Oncogene 1993) 3 4 23
  2. Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene. (PMID: 1303175) Kenwrick S. … Gitschier J. (Hum. Mol. Genet. 1992) 2 3 4
  3. Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. (PMID: 14636569) Dong Y. … Shiekhattar R. (Mol. Cell 2003) 2 3 4
  4. RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. (PMID: 17525341) Sobhian B. … Greenberg R.A. (Science 2007) 3 4
  5. Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage. (PMID: 18077395) Wang B. … Elledge S.J. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4

Products for BRCC3 Gene

  • Addgene plasmids for BRCC3

Sources for BRCC3 Gene

Back to Top

Content