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Aliases for BRCC3 Gene

Aliases for BRCC3 Gene

  • BRCA1/BRCA2-Containing Complex Subunit 3 2 3 4 5
  • BRCA1/BRCA2-Containing Complex, Subunit 3 2 3
  • BRCA1/BRCA2-Containing Complex Subunit 36 3 4
  • BRCA1-A Complex Subunit BRCC36 3 4
  • BRISC Complex Subunit BRCC36 3 4
  • CXorf53 3 4
  • BRCC36 3 4
  • C6.1A 3 4
  • Chromosome X Open Reading Frame 53 2
  • Lys-63-Specific Deubiquitinase 2
  • EC 3.1.2.15 63
  • EC 3.4.19.- 4

External Ids for BRCC3 Gene

Previous HGNC Symbols for BRCC3 Gene

  • CXorf53

Previous GeneCards Identifiers for BRCC3 Gene

  • GC0XP153865
  • GC0XP153952
  • GC0XP154299
  • GC0XP142845

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 Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome and T-Cell Prolymphocytic Leukemia. Among its related pathways are Cell Cycle Checkpoints and DNA Double-Strand Break Repair. GO annotations related to this gene include metallopeptidase activity and obsolete ubiquitin thiolesterase activity.

UniProtKB/Swiss-Prot for BRCC3 Gene

  • Metalloprotease that specifically cleaves Lys-63-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). 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) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26344097, PubMed:26195665). 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 (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).

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

Regulatory Elements for BRCC3 Gene


Promoters for BRCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BRCC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BRCC3 Gene

Chromosome:
X
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

Genes around BRCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Component of the ARISC complex, at least composed of UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:20656690, PubMed:24075985). Component of the BRCA1-A complex, at least composed of 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 (PubMed:18077395, PubMed:19261748). Component of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:24075985, PubMed:25283148, PubMed:26344097). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985). In the BRISC complex, interacts directly with FAM175B (PubMed:20656690, PubMed:26344097). Identified in a complex with FAM175B and NUMA1 (PubMed:26195665). 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

  • Ubiquitination at Lys 51, Lys 65, and Lys 180
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BRCC3

Domains & Families for BRCC3 Gene

Protein Domains for BRCC3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BRCC3 Gene

Graphical View of Domain Structure for InterPro Entry

P46736

UniProtKB/Swiss-Prot:

BRCC3_HUMAN :
  • Contains 1 MPN (JAB/Mov34) domain.
  • Belongs to the peptidase M67A family. BRCC36 subfamily.
Domain:
  • Contains 1 MPN (JAB/Mov34) domain.
Family:
  • Belongs to the peptidase M67A family. BRCC36 subfamily.
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 (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). 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) (PubMed:20656690). Catalytic subunit of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:20656690, PubMed:24075985, PubMed:26344097, PubMed:26195665). 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 (PubMed:19214193). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).

Enzyme Numbers (IUBMB) for BRCC3 Gene

Gene Ontology (GO) - Molecular Function for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008237 metallopeptidase activity IMP 17525341
genes like me logo Genes that share ontologies with BRCC3: view
genes like me logo Genes that share phenotypes with BRCC3: view

Human Phenotype Ontology for BRCC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for BRCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRCC3 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:20656690, PubMed:26344097). Interaction with FAM175B/ABRO1 retains BRCC3 in the cytoplasm (PubMed:20656690). {ECO:0000269 PubMed:20656690, ECO:0000269 PubMed:26344097}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRCC3 Gene COMPARTMENTS Subcellular localization image for BRCC3 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0070531 BRCA1-A complex IDA 17525341
genes like me logo Genes that share ontologies with BRCC3: view

Pathways & Interactions for BRCC3 Gene

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

Pathways by source for BRCC3 Gene

SIGNOR curated interactions for BRCC3 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0010165 response to X-ray IDA 14636569
GO:0010212 response to ionizing radiation IMP 17525341
GO:0045739 positive regulation of DNA repair IMP 17525341
GO:0050790 regulation of catalytic activity IDA 14636569
genes like me logo Genes that share ontologies with BRCC3: view

Drugs & Compounds for BRCC3 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for BRCC3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4) and Lymph node (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BRCC3: view

Protein tissue co-expression partners for BRCC3 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for BRCC3 Gene

Orthologs for BRCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BRCC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BRCC3 35
  • 91.76 (n)
  • 97.49 (a)
BRCC3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRCC3 35
  • 93.99 (n)
  • 98.42 (a)
BRCC3 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brcc3 35
  • 90.2 (n)
  • 95.7 (a)
Brcc3 16
Brcc3 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BRCC3 35
  • 99.79 (n)
  • 99.68 (a)
rat
(Rattus norvegicus)
Mammalia Brcc3 35
  • 81.48 (n)
  • 91.4 (a)
oppossum
(Monodelphis domestica)
Mammalia BRCC3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRCC3 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRCC3 35
  • 75.51 (n)
  • 85.3 (a)
BRCC3 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRCC3 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brcc3 35
  • 72.31 (n)
  • 85.04 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13095 35
zebrafish
(Danio rerio)
Actinopterygii brcc3 36
  • 75 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06820 35
  • 57.78 (n)
  • 58 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4817 35
rice
(Oryza sativa)
Liliopsida Os.14093 35
Os05g0542600 35
  • 56.78 (n)
  • 52.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3578 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.679 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs28997578 - 155,077,194(+) TTCAC(A/G)TTCAT reference, missense
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

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

Variation tolerance for BRCC3 Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRCC3 Gene

Human Gene Mutation Database (HGMD)
BRCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRCC3 Gene

Disorders for BRCC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BRCC3 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
  • moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
t-cell prolymphocytic leukemia
  • leukemia, t-cell, chronic
- elite association - COSMIC cancer census association via MalaCards
Search BRCC3 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:8247530}.

Relevant External Links for BRCC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRCC3
genes like me logo Genes that share disorders with BRCC3: view

No data available for Genatlas for BRCC3 Gene

Publications for BRCC3 Gene

  1. 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 67
  2. 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 23
  3. 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. BRCC3 mutations in myeloid neoplasms. (PMID: 26001790) Huang D. … Makishima H. (Haematologica 2015) 3
  5. BRCC3 acts as a prognostic marker in nasopharyngeal carcinoma patients treated with radiotherapy and mediates radiation resistance in vitro. (PMID: 26024915) Tu Z. … Xia Y. (Radiat Oncol 2015) 3

Products for BRCC3 Gene

Sources for BRCC3 Gene

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