Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BAP1 Gene

Aliases for BAP1 Gene

  • BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase) 2 3
  • Cerebral Protein 6 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase BAP1 3
  • 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
  • TPDS 6

External Ids for BAP1 Gene

Previous GeneCards Identifiers for BAP1 Gene

  • GC03M051527
  • GC03M051687
  • GC03M052290
  • GC03M052393

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]

GeneCards Summary for BAP1 Gene

BAP1 (BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase)) is a Protein Coding gene. Diseases associated with BAP1 include tumor predisposition syndrome and bap1-related tumor predisposition syndrome. Among its related pathways are Cytoskeletal Signaling and Protein Stability. GO annotations related to this gene include chromatin binding and peptidase activity. An important paralog of this gene is UCHL5.

UniProtKB/Swiss-Prot for BAP1 Gene

  • Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. 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. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. 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.

Gene Wiki entry for BAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAP1 Gene

Genomics for BAP1 Gene

Regulatory Elements for BAP1 Gene

Genomic Location for BAP1 Gene

Start:
52,401,004 bp from pter
End:
52,410,350 bp from pter
Size:
9,347 bases
Orientation:
Minus strand

Genomic View for BAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with BRCA1 (via the RING finger). Interacts (via HBM-like motif) with HCFC1.
    SequenceCaution:
    • Sequence=BAA13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for BAP1 Gene

Proteomics data for BAP1 Gene at MOPED

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

Other Protein References for BAP1 Gene

No data available for DME Specific Peptides for BAP1 Gene

Domains for BAP1 Gene

Protein Domains for BAP1 Gene

Suggested Antigen Peptide Sequences for BAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92560

UniProtKB/Swiss-Prot:

BAP1_HUMAN :
  • Q92560
Family:
  • Belongs to the peptidase C12 family. BAP1 subfamily.
genes like me logo Genes that share domains with BAP1: view

No data available for Gene Families for BAP1 Gene

Function for BAP1 Gene

Molecular function for BAP1 Gene

GENATLAS Biochemistry: BRCA1 associated protein 1,widely expressed,binding to the BRCA1 RING finger domain and enhancing BRCA1-mediated cell growth suppression
UniProtKB/Swiss-Prot CatalyticActivity: 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).
UniProtKB/Swiss-Prot Function: Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. 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. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. 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.

Enzyme Numbers (IUBMB) 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:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity IDA 18757409
GO:0005515 protein binding IPI 19117993
GO:0008233 peptidase activity NAS 9528852
genes like me logo Genes that share ontologies with BAP1: view
genes like me logo Genes that share phenotypes with BAP1: view

Animal Models for BAP1 Gene

MGI Knock Outs for BAP1:

No data available for Transcription Factor Targeting 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
Jensen Localization Image for BAP1 Gene COMPARTMENTS Subcellular localization image for BAP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for BAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 18757409
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0035517 PR-DUB complex IDA 20436459
genes like me logo Genes that share ontologies with BAP1: view

Pathways for BAP1 Gene

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

Pathways by source for BAP1 Gene

2 Cell Signaling Technology pathways for BAP1 Gene

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:0006464 cellular protein modification process NAS 9528852
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0008285 negative regulation of cell proliferation TAS 9528852
GO:0016579 protein deubiquitination IDA 18757409
genes like me logo Genes that share ontologies with BAP1: view

Transcripts for BAP1 Gene

Unigene Clusters for BAP1 Gene

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase):
Representative Sequences:

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
ECgene alternative splicing isoforms for
BAP1

Expression for BAP1 Gene

mRNA expression in normal human tissues for BAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAP1 Gene

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.
genes like me logo Genes that share expressions 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 35
  • 99.54 (n)
  • 99.73 (a)
BAP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAP1 35
  • 91.7 (n)
  • 94.8 (a)
BAP1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAP1 35
  • 92 (n)
  • 96.02 (a)
BAP1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bap1 35
  • 88.37 (n)
  • 92.86 (a)
Bap1 16
Bap1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAP1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAP1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bap1 35
  • 88.95 (n)
  • 93.26 (a)
chicken
(Gallus gallus)
Aves BAP1 35
  • 80.83 (n)
  • 85.55 (a)
BAP1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAP1 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11445 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bap1 35
  • 68.13 (n)
  • 76.54 (a)
Str.10136 35
zebrafish
(Danio rerio)
Actinopterygii bap1 35
  • 67 (n)
  • 72.07 (a)
bap1 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta calypso 35
  • 61.34 (n)
  • 59.76 (a)
calypso 36
  • 45 (a)
OneToOne
CG8445 37
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for BAP1:
  • 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)

Paralogs for BAP1 Gene

Paralogs for BAP1 Gene

Selected SIMAP similar genes for BAP1 Gene using alignment to 6 proteins:

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

Variants for BAP1 Gene

Sequence variations from dbSNP and Humsavar for BAP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs15213 -- 52,401,150(-) AGGCC(C/T)CTTTA utr-variant-3-prime
rs123598 -- 52,401,844(+) AGTTG(A/C/G/T)GACCG utr-variant-3-prime
rs123602 -- 52,408,338(+) AGTTC(C/G)TTCTG intron-variant
rs419604 -- 52,407,590(+) TTCTT(A/T)AAAGG intron-variant
rs1802229 -- 52,401,451(-) GAGGC(C/T)CAGAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv876789 CNV Loss 21882294
nsv834696 CNV Loss 17160897
nsv834697 CNV Loss 17160897
dgv5137n71 CNV Loss 21882294

Relevant External Links for BAP1 Gene

HapMap Linkage Disequilibrium report
BAP1
Human Gene Mutation Database (HGMD)
BAP1

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

Disorders for BAP1 Gene

(1) OMIM Diseases for BAP1 Gene (603089)

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:21874003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for BAP1 Gene

Disease -log(P) Hits PubMed IDs
parkinson disease 33.7 2
breast cancer 17 3
tumors 0 3

Relevant External Links for BAP1

Genetic Association Database (GAD)
BAP1
Human Genome Epidemiology (HuGE) Navigator
BAP1
genes like me logo Genes that share disorders with BAP1: view

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 D.E. … Rauscher F.J. III (Oncogene 1998) 2 3 4 23
  2. Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PMID: 12800201) Behrends U. … Mautner J. (Int. J. Cancer 2003) 3 4 23
  3. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. (PMID: 19117993) Nishikawa H. … Ohta T. (Cancer Res. 2009) 3 4 23
  4. Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer. (PMID: 19197335) GuAcnard F. … Durocher F. (J. Hum. Genet. 2009) 3 23 48
  5. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. (PMID: 19815555) Machida Y.J. … Dutta A. (J. Biol. Chem. 2009) 3 4 23

Products for BAP1 Gene

  • Addgene plasmids for BAP1

Sources for BAP1 Gene

Back to Top

Content