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    BAP1 BRCA1 associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 8314, updated on 25-May-2017
    Official Symbol
    BAP1provided by HGNC
    Official Full Name
    BRCA1 associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:950
    See related
    Ensembl:ENSG00000163930 MIM:603089; Vega:OTTHUMG00000158392
    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
    UCHL2; hucep-6; HUCEP-13
    Summary
    This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    3p21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (52401004..52410105, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52435020..52444121, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene glycerate kinase Neighboring gene microRNA 135a-1 Neighboring gene dynein axonemal heavy chain 1 Neighboring gene protein phosphatase 2 regulatory subunit B'gamma pseudogene Neighboring gene PHD finger protein 7 Neighboring gene uncharacterized LOC105377091 Neighboring gene semaphorin 3G

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Tumor susceptibility linked to germline BAP1 mutations
    MedGen: C3280492 OMIM: 614327 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
      DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
    • UCH proteinases, organism-specific biosystem (from REACTOME)
      UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35406, FLJ37180, KIAA0272, DKFZp686N04275

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular protein modification process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    macrophage homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    monoubiquitinated histone H2A deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monoubiquitinated protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein K48-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytokine production involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PR-DUB complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ubiquitin carboxyl-terminal hydrolase BAP1
    Names
    BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
    cerebral protein 6
    cerebral protein-13
    NP_004647.1
    XP_011532451.1
    XP_011532452.1
    XP_011532453.1
    XP_011532454.1
    XP_016862792.1

    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_031859.1 RefSeqGene

      Range
      4889..13990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_529

    mRNA and Protein(s)

    1. NM_004656.3NP_004647.1  ubiquitin carboxyl-terminal hydrolase BAP1

      See identical proteins and their annotated locations for NP_004647.1

      Status: REVIEWED

      Source sequence(s)
      AK292608, AY130008, DA188433
      Consensus CDS
      CCDS2853.1
      UniProtKB/Swiss-Prot
      Q92560
      UniProtKB/TrEMBL
      A0A024R305
      Related
      ENSP00000417132.1, OTTHUMP00000212891, ENST00000460680.5, OTTHUMT00000350895
      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      52401004..52410105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007303.1XP_016862792.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X5

      UniProtKB/TrEMBL
      F8W6N3
      Related
      ENSP00000296288.5, OTTHUMP00000212984, ENST00000296288.9, OTTHUMT00000351150
    2. XM_011534151.2XP_011532453.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X3

      Conserved Domains (1) summary
      cd09617
      Location:5223
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    3. XM_011534152.1XP_011532454.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X4

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    4. XM_011534150.2XP_011532452.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X2

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    5. XM_011534149.2XP_011532451.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X1

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      52387546..52396647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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