Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) [ Homo sapiens (human) ]

    Gene ID: 8314, updated on 2-Aug-2015
    Official Symbol
    BAP1provided by HGNC
    Official Full Name
    BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)provided by HGNC
    Primary source
    HGNC:HGNC:950
    See related
    Ensembl:ENSG00000163930; HPRD:04366; 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
    See BAP1 in Epigenomics, MapViewer
    Location:
    3p21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Tumor predisposition syndrome
    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
    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 
    ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    PR-DUB complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ubiquitin carboxyl-terminal hydrolase BAP1
    Names
    cerebral protein 6
    cerebral protein-13
    NP_004647.1

    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/TrEMBL
      A0A024R305
      UniProtKB/Swiss-Prot
      Q92560
      Related
      ENSP00000417132, OTTHUMP00000212891, ENST00000460680, 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011534152.1XP_011532454.1  

      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
    2. XM_011534151.1XP_011532453.1  

      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_011534150.1XP_011532452.1  

      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_011534149.1XP_011532451.1  

      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
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)