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

Gene ID: 8314, updated on 3-May-2020

Summary

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
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]
Expression
Ubiquitous expression in testis (RPKM 47.8), skin (RPKM 26.6) and 25 other tissues See more
Orthologs

Genomic context

See BAP1 in Genome Data Viewer
Location:
3p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52401004..52410030, 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 VISTA enhancer hs2179

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-12-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-12-27)

ClinGen Genome Curation PagePubMed

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
PR-DUB complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_004656.4NP_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
    Consensus CDS
    CCDS2853.1
    UniProtKB/Swiss-Prot
    Q92560
    UniProtKB/TrEMBL
    A0A024R305
    Related
    ENSP00000417132.1, ENST00000460680.6
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52401004..52410030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007303.2XP_016862792.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X5

    UniProtKB/TrEMBL
    F8W6N3
    Related
    ENSP00000296288.5, ENST00000296288.9
  2. XM_011534151.3XP_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_011534152.2XP_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_011534150.3XP_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_011534149.3XP_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
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