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

    Gene ID: 79184, updated on 13-May-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See BRCC3 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155071508..155123077)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153307916..153359479)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Functional characterization of BRCC3 mutations in acute myeloid leukemia with t(8;21)(q22;q22.1). Meyer T, et al. Leukemia, 2020 Feb. PMID 31576005, Free PMC Article
    2. Knockdown of BRCC3 exerts an anti‑tumor effect on cervical cancer in vitro. Zhang F, et al. Mol Med Rep, 2018 Dec. PMID 30272359, Free PMC Article
    3. The Lys63-deubiquitylating Enzyme BRCC36 Limits DNA Break Processing and Repair. Ng HM, et al. J Biol Chem, 2016 Jul 29. PMID 27288411, Free PMC Article
    4. BRCC3 acts as a prognostic marker in nasopharyngeal carcinoma patients treated with radiotherapy and mediates radiation resistance in vitro. Tu Z, et al. Radiat Oncol, 2015 May 30. PMID 26024915, Free PMC Article
    5. BRCC3 mutations in myeloid neoplasms. Huang D, et al. Haematologica, 2015 Aug. PMID 26001790, Free PMC Article

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deubiquitinase BRCC3 promotes the migration, invasion and EMT progression of colon adenocarcinoma by stabilizing MET expression.
      Title: Deubiquitinase BRCC3 promotes the migration, invasion and EMT progression of colon adenocarcinoma by stabilizing MET expression.
    2. The deubiquitinase BRCC3 increases the stability of ZEB1 and promotes the proliferation and metastasis of triple-negative breast cancer cells.
      Title: The deubiquitinase BRCC3 increases the stability of ZEB1 and promotes the proliferation and metastasis of triple-negative breast cancer cells.
    3. BRCC3 mediates inflammation and pyroptosis in cerebral ischemia/reperfusion injury by activating the NLRP6 inflammasome.
      Title: BRCC3 mediates inflammation and pyroptosis in cerebral ischemia/reperfusion injury by activating the NLRP6 inflammasome.
    4. Identification of BRCC3 and BRCA1 as Regulators of TAZ Stability and Activity.
      Title: Identification of BRCC3 and BRCA1 as Regulators of TAZ Stability and Activity.
    5. Identification and Verification of the Ability of Cdk5 to Phosphorylate Deubiquitinating Enzyme BRCC3 In Vitro.
      Title: Identification and Verification of the Ability of Cdk5 to Phosphorylate Deubiquitinating Enzyme BRCC3 In Vitro.
    6. ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2.
      Title: ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2.
    7. BRCA1-A and BRISC: Multifunctional Molecular Machines for Ubiquitin Signaling.
      Title: BRCA1-A and BRISC: Multifunctional Molecular Machines for Ubiquitin Signaling.
    8. BRCC36 functions noncatalytically to promote antiviral response by maintaining STAT1 protein stability.
      Title: BRCC36 functions noncatalytically to promote antiviral response by maintaining STAT1 protein stability.
    9. Vitamin D Receptor Inhibits NLRP3 Activation by Impeding Its BRCC3-Mediated Deubiquitination.
      Title: Vitamin D Receptor Inhibits NLRP3 Activation by Impeding Its BRCC3-Mediated Deubiquitination.
    10. Cell lines and primary mouse cells with inactivation of BRCC3 had a higher sensitivity to doxorubicin.
      Title: Functional characterization of BRCC3 mutations in acute myeloid leukemia with t(8;21)(q22;q22.1).
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K63-linked deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables K63-linked deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal-dependent deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair-dependent chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic G2/M transition checkpoint NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NLRP3 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of NLRP3 inflammasome complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein K63-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K63-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA damage checkpoint NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within response to X-ray IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BRCA1-A complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of BRISC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BRISC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of nuclear ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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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    NEW Try the new Transcript table

    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_001018055.3 → NP_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:13 → 267
      MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex

    2. NM_001242640.2 → NP_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:13 → 268
      MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex

    3. NM_024332.4 → NP_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:13 → 292
      MPN_BRCC36; Mov34/MPN/PAD-1 family: BRCC36, a subunit of BRCA1-A complex

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_005274751.5 → XP_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:13 → 293
      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_054327863.1 → XP_054183838.1  lys-63-specific deubiquitinase BRCC36 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P46736.2 GenPept UniProtKB/Swiss-Prot:P46736

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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