Sign in to NCBI
Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
mouse all

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy. Soares de Sá BC, et al. BMC Cancer, 2019 Nov 9. PMID 31706282, Free PMC Article
  2. BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers. Kuznetsov JN, et al. Sci Adv, 2019 Sep. PMID 31555735, Free PMC Article
  3. Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Repo P, et al. Hum Mol Genet, 2019 Jul 15. PMID 31058963
  4. BAP1-deficient tumor/nevus with germline aberration: A potential pitfall in assessing melanocytic neoplasms with single nucleotide polymorphism array. Hedayat AA, et al. J Cutan Pathol, 2019 Sep. PMID 31058349
  5. Loss of BAP1 Results in Growth Inhibition and Enhances Mesenchymal-Epithelial Transition in Kidney Tumor Cells. Chen P, et al. Mol Cell Proteomics, 2019 Jul. PMID 30992312,

See all (264) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These findings show that Bap1 regulates lineage commitment through H3K27ac-mediated transcriptional activation, at least in part, by modulation of Hdac4, and they provide insights into how BAP1 loss promotes cancer progression.
    Title: BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers.
  2. A novel pathogenic BAP1 germline variant was indentified in an adult female patient with a family a history cutaneous melanomas, and mesothelioma.
    Title: BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy.
  3. Identification of pathogenic BAP1 germline variations in patients with uveal melanoma.
    Title: Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
  4. a new role for BAP1 in controlling mesenchymal-epithelial transition in clear cell renal cancer cells, is reported.
    Title: Loss of BAP1 Results in Growth Inhibition and Enhances Mesenchymal-Epithelial Transition in Kidney Tumor Cells.
  5. BAP1-deficient tumor/nevus with germline aberration: A potential pitfall in assessing melanocytic neoplasms with single nucleotide polymorphism array.
    Title: BAP1-deficient tumor/nevus with germline aberration: A potential pitfall in assessing melanocytic neoplasms with single nucleotide polymorphism array.
  6. Five clusters with distinct copy number variations patterns and concomitant mutations in BAP1, SF3B1, or EIF1AX were identified. Incorporating clinico-histopathological, cluster and mutation data in the analysis results in good performance for uveal melanoma-related disease free survival prediction.
    Title: Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.
  7. These results indicate that miR-125a-5p inhibited cell proliferation and promoted cell apoptosis in breast cancer by negatively regulating BAP1.
    Title: MiR-125a-5p functions as a tumour suppressor in breast cancer by downregulating BAP1.
  8. BAP1 is a putative tumor suppressor of ICC.
    Title: BAP1 acts as a tumor suppressor in intrahepatic cholangiocarcinoma by modulating the ERK1/2 and JNK/c-Jun pathways.
  9. study uncovers a new mechanism for BAP1 in the regulation of cell apoptosis in neuroblastoma cells.
    Title: BAP1 induces cell death via interaction with 14-3-3 in neuroblastoma.
  10. BAP1 is highly positively correlated with RBM15B and USP19 expression in invasive breast carcinoma, UM, and colon adenocarcinoma
    Title: BAP1 expression is prognostic in breast and uveal melanoma but not colon cancer and is highly positively correlated with RBM15B and USP19.
Submit: New GeneRIF Correction See all GeneRIFs (214)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
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 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of protein targeting to mitochondrion HMP PubMed 
protein K48-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
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 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

Go to the top of the page Help
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)

Go to the top of the page Help

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_004656.4 → NP_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:5 → 233
    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_017007303.2 → XP_016862792.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X5

    UniProtKB/TrEMBL
    F8W6N3
    Related
    ENSP00000296288.5, ENST00000296288.9

  2. XM_011534151.3 → XP_011532453.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X3

    Conserved Domains (1) summary
    cd09617
    Location:5 → 223
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

  3. XM_011534152.2 → XP_011532454.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X4

    Conserved Domains (1) summary
    cd09617
    Location:5 → 233
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

  4. XM_011534150.3 → XP_011532452.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X2

    Conserved Domains (1) summary
    cd09617
    Location:5 → 233
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

  5. XM_011534149.3 → XP_011532451.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X1

    Conserved Domains (1) summary
    cd09617
    Location:5 → 233
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92560.2 GenPept UniProtKB/Swiss-Prot:Q92560

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center