Human Gene BAP1 (ENST00000460680.6) from GENCODE V44
Description: Homo sapiens BRCA1 associated protein 1 (BAP1), mRNA. (from RefSeq NM_004656) RefSeq Summary (NM_004656): 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]. Gencode Transcript: ENST00000460680.6 Gencode Gene: ENSG00000163930.10 Transcript (Including UTRs) Position: hg38 chr3:52,401,008-52,410,008 Size: 9,001 Total Exon Count: 17 Strand: - Coding Region Position: hg38 chr3:52,402,288-52,409,878 Size: 7,591 Coding Exon Count: 17
ID:BAP1_HUMAN DESCRIPTION: RecName: Full=Ubiquitin carboxyl-terminal hydrolase BAP1; EC=3.4.19.12; AltName: Full=BRCA1-associated protein 1; AltName: Full=Cerebral protein 6; 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. Acts as a tumor suppressor. CATALYTIC ACTIVITY: 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). SUBUNIT: 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. INTERACTION: P38398:BRCA1; NbExp=3; IntAct=EBI-1791447, EBI-349905; P38398-5:BRCA1; NbExp=2; IntAct=EBI-1791447, EBI-2015072; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly nuclear. Binds to chromatin. TISSUE SPECIFICITY: Highly expressed in testis, placenta and ovary. Expressed in breast. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in BAP1 may be a cause of 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. DISEASE: Defects in BAP1 are a cause of tumor predisposition syndrome (TPDS) [MIM:614327]. TPDS is 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. SIMILARITY: Belongs to the peptidase C12 family. BAP1 subfamily. SEQUENCE CAUTION: Sequence=BAA13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01088 - Ubiquitin carboxyl-terminal hydrolase, family 1
ModBase Predicted Comparative 3D Structure on Q92560
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001558 regulation of cell growth GO:0006325 chromatin organization GO:0006464 cellular protein modification process GO:0006508 proteolysis GO:0006511 ubiquitin-dependent protein catabolic process GO:0008285 negative regulation of cell proliferation GO:0010035 response to inorganic substance GO:0016579 protein deubiquitination GO:0035520 monoubiquitinated protein deubiquitination GO:0035522 monoubiquitinated histone H2A deubiquitination GO:0050727 regulation of inflammatory response GO:0051726 regulation of cell cycle GO:0061519 macrophage homeostasis GO:0071108 protein K48-linked deubiquitination GO:1900015 regulation of cytokine production involved in inflammatory response GO:1903955 positive regulation of protein targeting to mitochondrion
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