InnateDB Protein
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IDBP-484468.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BAP1
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Protein Name
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BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
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Synonyms
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HUCEP-13; UCHL2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000417132
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InnateDB Gene
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IDBG-38830 (BAP1)
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Protein Structure
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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. {ECO:0000269PubMed:12485996, ECO:0000269PubMed:18757409, ECO:0000269PubMed:19117993, ECO:0000269PubMed:19188440, ECO:0000269PubMed:19815555, ECO:0000269PubMed:20436459, ECO:0000269PubMed:24703950, ECO:0000269PubMed:9528852}.
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Subcellular Localization |
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:0000269PubMed:24703950}.
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Disease Associations |
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:0000269PubMed:21642991, ECO:0000269PubMed: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:0000269PubMed:21874003}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in testis, placenta and ovary. Expressed in breast. {ECO:0000269PubMed:9528852}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 60 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
60
[view]
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Protein-Protein |
60
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001578
Peptidase C12, ubiquitin carboxyl-terminal hydrolase
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PFAM |
PF01088
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PRINTS |
PR00707
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92560
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PhosphoSite |
PhosphoSite-Q92560
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TrEMBL |
F8WEY5
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UniProt Splice Variant |
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Entrez Gene |
8314
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UniGene |
Hs.622728
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RefSeq |
NP_004647
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HUGO |
HGNC:950
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OMIM |
603089
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CCDS |
CCDS2853
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HPRD |
04366
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IMGT |
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EMBL |
AC092045
AF045581
AK292608
AY130008
BC001596
CH471055
D87462
D88812
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GenPept |
AAC15970
AAH01596
AAN05092
BAA13401
BAB46921
BAF85297
EAW65220
EAW65221
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