Gene content
Symbol	BAP1 ( by HUGO)
Name	BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase)
Category	Tumor suppressor gene
Alias	BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase) Cerebral Protein 6 HUCEP-13 UCHL2 Cerebral Protein-13 Ubiquitin Carboxyl-Terminal Hydrolase BAP1 EC 3.4.19.12 KIAA0272 BRCA1-Associated Protein 1 TPDS
Cytogenetic band	NCBI: 3p21.31-p21.2    Ensembl: 3p21.1
Protein information	BAP1_HUMAN Size: 729 amino acids Mass: 80362 Da 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 Sequence caution: Sequence=BAA13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Tissue specificity: Highly expressed in testis, placenta and ovary. Expressed in breast [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including BAP1: Polycomb & Trithorax Complexes in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template 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                        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) Similarity: Belongs to the peptidase C12 family. BAP1 subfamily [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001578	Peptidase_C12_UCH	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1	Family
Blocks	IPB001578	Ubiquitin carboxyl-terminal hydrolase	Ubiquitin carboxyl-terminal hydrolase, family 1

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cellular protein modification process	NAS	GOA	9528852
	negative regulation of cell proliferation	TAS	GOA	9528852
	protein deubiquitination	IDA	GOA	18757409
	protein K48-linked deubiquitination	IMP	GOA	19188440
	regulation of cell cycle	IMP	GOA	19188440
	regulation of cell growth	IMP	GOA	19815555
Molecular Function	chromatin binding	IDA	GOA	19815555
	peptidase activity	NAS	GOA	9528852
	protein binding	IPI	GOA	19117993
	ubiquitin thiolesterase activity	IMP	GOA	18757409
	ubiquitin-specific protease activity	IDA	GOA	18757409

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The gene represented in this entry is involved in disease pathogenesis
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

BAP1 cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene