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 transcripti... See more...

Aliases for BAP1 Gene

Aliases for BAP1 Gene

  • BRCA1 Associated Protein 1 2 3 5
  • BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase) 2 3
  • Ubiquitin Carboxyl-Terminal Hydrolase BAP1 3 4
  • Cerebral Protein 6 3 4
  • Ubiquitin Carboxy-Terminal Hydrolase 2
  • BRCA1-Associated Protein 1 4
  • Cerebral Protein-13 3
  • EC 3.4.19.12 4
  • HUCEP-13 3
  • KIAA0272 4
  • Hucep-6 3
  • UCHL2 3

External Ids for BAP1 Gene

Previous GeneCards Identifiers for BAP1 Gene

  • GC03M051527
  • GC03M051687
  • GC03M052290
  • GC03M052393
  • GC03M052410

Summaries for BAP1 Gene

Entrez Gene Summary for BAP1 Gene

  • 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]

CIViC Summary for BAP1 Gene

  • BAP1 is a deubiquitylase thought to be a key regulator of many cancer-associated pathways. Germline alterations in BAP1 have been characterized as predisposing variants to familial melanocytic skin tumors. These alterations also have been linked to the development of mesothelioma, uveal melanoma, cutaneous melanoma and others. Clinically, the role of BAP1 is still being investigated. However, the development of intradermal tumors known as melanocytic BAP1-associated intradermal tumors (MBAITs) are enough for a patient to be subject to more intense surveillance to catch other malignancies as early as possible.

GeneCards Summary for BAP1 Gene

BAP1 (BRCA1 Associated Protein 1) is a Protein Coding gene. Diseases associated with BAP1 include Tumor Predisposition Syndrome and Melanoma, Uveal. Among its related pathways are Metabolism of proteins and DNA Double Strand Break Response. Gene Ontology (GO) annotations related to this gene include chromatin binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is UCHL5.

UniProtKB/Swiss-Prot Summary for BAP1 Gene

  • Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1 (PubMed:12485996, PubMed:18757409, PubMed:20436459, PubMed:25451922). Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459, PubMed:25451922). Does not deubiquitinate monoubiquitinated histone H2B (PubMed:20436459). Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains (PubMed:19188440, PubMed:19815555). Deubiquitination of HCFC1 does not lead to increase stability of HCFC1 (PubMed:19188440, PubMed:19815555). Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination (PubMed:19117993). It however does not mediate deubiquitination of BRCA1 and BARD1 (PubMed:19117993). Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor (PubMed:9528852).

Gene Wiki entry for BAP1 Gene

Additional gene information for BAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAP1 Gene

Genomics for BAP1 Gene

GeneHancer (GH) Regulatory Elements for BAP1 Gene

Promoters and enhancers for BAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052408 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.5 -496 4.4 HNRNPK EP300 CTCF SIN3A NRF1 USF1 POLR2G SP1 PHF8 SIX5 BAP1 HSALNG0026149 PHF7 SEMA3G NISCH TNNC1 GLYCTK-AS1 MIR135A1 GLYCTK WDR82
GH03J052404 Promoter 0.4 EPDnew 500.4 +5.6 5634 0.1 ZNF513 BAP1 piR-33827 ENSG00000239557 PPP2R5CP
GH03J052385 Enhancer 0.9 Ensembl ENCODE 12.7 +24.8 24804 0.6 ZNF217 CTCF NRF1 TEAD4 ZNF263 REST MYC CTBP1 TRIM22 SMC3 BAP1 PHF7 GLYCTK-AS1 LOC101929054 TWF2 ENSG00000173366 MIR135A1 GLYCTK WDR82 TLR9
GH03J052323 Enhancer 0.8 Ensembl CraniofacialAtlas 10.9 +85.9 85904 1.2 SKI SMAD4 BCL6 NFE2 GLIS1 RARA RAD21 NR2F6 HNF4A TEAD3 GLYCTK-AS1 MIR135A1 GLYCTK WDR82 PPM1M TWF2 BAP1 PHF7 DNAH1 NONHSAG035166.2
GH03J052389 Enhancer 0.4 Ensembl 12.7 +20.0 20004 1 CEBPB NFIA CEBPG ZNF770 CEBPA PPM1M BAP1 PHF7 LOC101929054 TWF2 GLYCTK-AS1 MIR135A1 ENSG00000173366 TLR9 WDR82
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAP1

Top Transcription factor binding sites by QIAGEN in the BAP1 gene promoter:
  • Nkx2-5
  • Sp1
  • SRF (504 AA)

Genomic Locations for BAP1 Gene

Genomic Locations for BAP1 Gene
chr3:52,401,004-52,410,105
(GRCh38/hg38)
Size:
9,102 bases
Orientation:
Minus strand
chr3:52,435,024-52,444,366
(GRCh37/hg19)
Size:
9,343 bases
Orientation:
Minus strand

Genomic View for BAP1 Gene

Genes around BAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAP1 Gene

Proteins for BAP1 Gene

  • Protein details for BAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92560-BAP1_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase BAP1
    Protein Accession:
    Q92560
    Secondary Accessions:
    • A8K993
    • Q6LEM0
    • Q7Z5E8

    Protein attributes for BAP1 Gene

    Size:
    729 amino acids
    Molecular mass:
    80362 Da
    Quaternary structure:
    • Component of the PR-DUB complex, at least composed of BAP1 and ASXL1 (PubMed:20436459). Interacts with BRCA1 (via the RING finger) (PubMed:19117993, PubMed:9528852). Interacts (via HBM-like motif) with HCFC1 (PubMed:19188440, PubMed:19815555). Interacts (when phosphorylated at Thr-493) with FOXK1 (PubMed:25451922). Interacts (when phosphorylated at Thr-493) with FOXK2; leading to recruit the PR-DUB complex and repress FOXK2 target genes (PubMed:24748658, PubMed:25451922).
    SequenceCaution:
    • Sequence=BAA13401.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for BAP1 Gene

Post-translational modifications for BAP1 Gene

  • Ubiquitinated: monoubiquitinated at multiple site of its nuclear localization signal (NLS) BY UBE2O, leading to cytoplasmic retention. Able to mediate autodeubiquitination via intramolecular interactions to couteract cytoplasmic retention.
  • Ubiquitination at Lys139, Lys155, and Lys630
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BAP1 Gene

Domains & Families for BAP1 Gene

Gene Families for BAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for BAP1 Gene

Blocks:
  • Ubiquitin carboxyl-terminal hydrolase, family 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BAP1 Gene

GenScript: Design optimal peptide antigens:
  • Cerebral protein 6 (BAP1_HUMAN)
  • Cerebral protein-13 (Q96TC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92560

UniProtKB/Swiss-Prot:

BAP1_HUMAN :
  • Belongs to the peptidase C12 family. BAP1 subfamily.
Family:
  • Belongs to the peptidase C12 family. BAP1 subfamily.
genes like me logo Genes that share domains with BAP1: view

Function for BAP1 Gene

Molecular function for BAP1 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1 (PubMed:12485996, PubMed:18757409, PubMed:20436459, PubMed:25451922). Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459, PubMed:25451922). Does not deubiquitinate monoubiquitinated histone H2B (PubMed:20436459). Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains (PubMed:19188440, PubMed:19815555). Deubiquitination of HCFC1 does not lead to increase stability of HCFC1 (PubMed:19188440, PubMed:19815555). Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination (PubMed:19117993). It however does not mediate deubiquitination of BRCA1 and BARD1 (PubMed:19117993). Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor (PubMed:9528852).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269 PubMed:20436459, ECO:0000269 PubMed:9528852};.
GENATLAS Biochemistry:
BRCA1 associated protein 1,widely expressed,binding to the BRCA1 RING finger domain and enhancing BRCA1-mediated cell growth suppression

Enzyme Numbers (IUBMB) for BAP1 Gene

Phenotypes From GWAS Catalog for BAP1 Gene

Gene Ontology (GO) - Molecular Function for BAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 19815555
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA,IEA 18757409
GO:0005515 protein binding IPI 9528852
GO:0008233 peptidase activity IEA,NAS 9528852
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with BAP1: view
genes like me logo Genes that share phenotypes with BAP1: view

Human Phenotype Ontology for BAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BAP1 Gene

MGI Knock Outs for BAP1:
  • Bap1 Bap1<tm1a(EUCOMM)Hmgu>
  • Bap1 Bap1<tm1.2Geno>

Animal Model Products

  • Taconic Biosciences Mouse Models for BAP1

Clone Products

  • Addgene plasmids for BAP1

No data available for Transcription Factor Targets and HOMER Transcription for BAP1 Gene

Localization for BAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAP1 Gene

Cytoplasm. Nucleus. Note=Mainly nuclear. Binds to chromatin. Localizes to the cytoplasm when monoubiquitinated by the E2/E3 hybrid ubiquitin-protein ligase UBE2O (PubMed:24703950). {ECO:0000269 PubMed:24703950}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus TAS,IDA 18757409
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IBA,IDA 18757409
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with BAP1: view

Pathways & Interactions for BAP1 Gene

genes like me logo Genes that share pathways with BAP1: view

Pathways by source for BAP1 Gene

1 Cell Signaling Technology pathway for BAP1 Gene

SIGNOR curated interactions for BAP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for BAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IMP 19815555
GO:0006325 chromatin organization IEA --
GO:0006464 cellular protein modification process NAS 9528852
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with BAP1: view

Drugs & Compounds for BAP1 Gene

(3) Drugs for BAP1 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niraparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors 77
Olaparib Approved Pharma PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 254
Poly(ADP-ribose) Polymerase Inhibitors Pharma 585
genes like me logo Genes that share compounds with BAP1: view

Transcripts for BAP1 Gene

mRNA/cDNA for BAP1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for BAP1

Alternative Splicing Database (ASD) splice patterns (SP) for BAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6: - -
SP7:
SP8: - -
SP9: - - - - - - -
SP10: -
SP11:
SP12:
SP13:

ExUns: 18b · 18c ^ 19 ^ 20a · 20b · 20c · 20d · 20e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for BAP1 Gene

GeneLoc Exon Structure for
BAP1

Expression for BAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BAP1 Gene

This gene is overexpressed in Lung (54.6) and Adipocyte (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAP1 Gene



Protein tissue co-expression partners for BAP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAP1

SOURCE GeneReport for Unigene cluster for BAP1 Gene:

Hs.106674

mRNA Expression by UniProt/SwissProt for BAP1 Gene:

Q92560-BAP1_HUMAN
Tissue specificity: Highly expressed in testis, placenta and ovary. Expressed in breast.

Evidence on tissue expression from TISSUES for BAP1 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Liver(4.3)
  • Lung(2.5)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • eye
  • head
  • meninges
Thorax:
  • lung
General:
  • skin
genes like me logo Genes that share expression patterns with BAP1: view

No data available for mRNA differential expression in normal tissues for BAP1 Gene

Orthologs for BAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAP1 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BAP1 31 30
  • 92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAP1 31 30
  • 91.7 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAP1 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bap1 30
  • 88.95 (n)
mouse
(Mus musculus)
Mammalia Bap1 17 31 30
  • 88.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAP1 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAP1 31 30
  • 80.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAP1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bap1 30
  • 68.13 (n)
Str.10136 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.11445 30
zebrafish
(Danio rerio)
Actinopterygii bap1 31 30
  • 67 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta calypso 31 30
  • 61.34 (n)
OneToOne
CG8445 32
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for BAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAP1 Gene

ENSEMBL:
Gene Tree for BAP1 (if available)
TreeFam:
Gene Tree for BAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAP1: view image

Paralogs for BAP1 Gene

Paralogs for BAP1 Gene

(1) SIMAP similar genes for BAP1 Gene using alignment to 6 proteins:

  • BAP1_HUMAN
  • C9J7L9_HUMAN
  • F8W6N3_HUMAN
  • F8WEY5_HUMAN
  • H0Y8E8_HUMAN
  • H7C4V7_HUMAN
genes like me logo Genes that share paralogs with BAP1: view

Variants for BAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAP1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
638885 Uncertain Significance: Tumor susceptibility linked to germline BAP1 mutations 52,405,236(-) G/C MISSENSE_VARIANT
639083 Uncertain Significance: Tumor susceptibility linked to germline BAP1 mutations 52,406,288(-) C/T MISSENSE_VARIANT
639786 Uncertain Significance: Tumor susceptibility linked to germline BAP1 mutations 52,403,902(-) G/T INTRON_VARIANT
640282 Pathogenic: Tumor susceptibility linked to germline BAP1 mutations 52,405,115(-) T/TG FRAMESHIFT_VARIANT
640652 Uncertain Significance: Tumor susceptibility linked to germline BAP1 mutations 52,404,511(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BAP1 Gene

Variant ID Type Subtype PubMed ID
dgv2525n106 CNV deletion 24896259
nsv1073643 CNV deletion 25765185
nsv834696 CNV loss 17160897
nsv834697 CNV loss 17160897
nsv954859 CNV deletion 24416366

Variation tolerance for BAP1 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAP1 Gene

Human Gene Mutation Database (HGMD)
BAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAP1 Gene

Disorders for BAP1 Gene

MalaCards: The human disease database

(35) MalaCards diseases for BAP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tumor predisposition syndrome
  • tpds
melanoma, uveal
  • uveal melanoma
bap1 tumor predisposition syndrome
  • tumor predisposition syndrome
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
peritoneal mesothelioma
  • advanced malignant mesothelioma of peritoneum
- elite association - COSMIC cancer census association via MalaCards
Search BAP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAP1_HUMAN
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269 PubMed:21642991, ECO:0000269 PubMed:21874000}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Tumor predisposition syndrome (TPDS) [MIM:614327]: A condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma. {ECO:0000269 PubMed:21874000, ECO:0000269 PubMed:21874003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BAP1: view

No data available for Genatlas for BAP1 Gene

Publications for BAP1 Gene

  1. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. (PMID: 9528852) Jensen DE … Rauscher FJ (Oncogene 1998) 2 3 4 23 54
  2. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. (PMID: 19815555) Machida YJ … Dutta A (The Journal of biological chemistry 2009) 3 4 23 54
  3. Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer. (PMID: 19197335) Guénard F … INHERIT BRCAs (Journal of human genetics 2009) 3 23 41 54
  4. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. (PMID: 19117993) Nishikawa H … Ohta T (Cancer research 2009) 3 4 23 54
  5. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PMID: 12800201) Behrends U … Mautner J (International journal of cancer 2003) 3 4 23 54

Products for BAP1 Gene

  • Signalway ELISA kits for BAP1
  • Signalway Proteins for BAP1

Sources for BAP1 Gene