BAP1 - BRCA1 associated protein 1 Gene

Also Known as UVM2; KURIS; TPDS1; UCHL2; hucep-6; HUCEP-13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8314

About BAP1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,401,008-52,410,008 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues, 3 paralogues and is associated with 118 phenotypes. Ubiquitous expression in testis (RPKM 47.8), skin (RPKM 26.6) and 25 other tissues.

Summary

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]

BAP1 Products (2)

mRNA	Protein	Name
NM_001410772.1	NP_001397701.1	ubiquitin carboxyl-terminal hydrolase BAP1 isoform 2
NM_004656.4	NP_004647.1	ubiquitin carboxyl-terminal hydrolase BAP1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	19815555	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	18757409	GOA
enables histone H2A deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	25451922	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9528852	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in monoubiquitinated protein deubiquitination	IDA IDA: Inferred from direct assay	24703950	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	25451922	GOA
involved in protein K48-linked deubiquitination	IMP IMP: Inferred from mutant phenotype	19188440	GOA
involved in protein deubiquitination	IDA IDA: Inferred from direct assay	18757409	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	19188440	GOA
involved in regulation of cell growth	IMP IMP: Inferred from mutant phenotype	19815555	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of PR-DUB complex	IDA IDA: Inferred from direct assay	20436459	GOA
part of PR-DUB complex	IPI IPI: Inferred from physical interaction	20436459	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18757409	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18757409	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BAP1 Protein Structure

Peptidase_C12

0
200
400
600
729 a.a.

Protein Preferred Names	Protein Names
ubiquitin carboxyl-terminal hydrolase BAP1	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

BAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BAP1	Q92560	ASXL1	Homo sapiens	Q8IXJ9	TAP	27705803
Intra	BAP1	Q92560	ASXL1	Homo sapiens	Q8IXJ9	Anti Tag CoIP	19615732
Intra	BAP1	Q92560	ASXL1	Homo sapiens	Q8IXJ9	Anti Tag CoIP	33961781
Intra	BAP1	Q92560	ASXL1	Homo sapiens	Q8IXJ9	Anti Tag CoIP	20436459
Intra	BAP1	Q92560	BRCA1	Homo sapiens	P38398-5	Anti Bait CoIP	9528852
Intra	BAP1	Q92560	BRCA1	Homo sapiens	P38398	Pull Down	9528852
Intra	BAP1	Q92560	BRCA1	Homo sapiens	P38398	Confocal	9528852
Intra	BAP1	Q92560	ITPR3	Homo sapiens	Q14573	Anti Bait CoIP	28614305
Intra	BAP1	Q92560	ITPR3	Homo sapiens	Q14573	PLA	28614305
Intra	BAP1	Q92560	ITPR3	Homo sapiens	Q14573	Anti Tag CoIP	28614305
Intra	BAP1	Q92560	ITPR3	Homo sapiens	Q14573	Deubiquitinase Assay	28614305
Intra	BAP1	Q92560	ITPR3	Homo sapiens	Q14573	Confocal	28614305
Intra	BAP1	Q92560	HCFC1	Homo sapiens	P51610	Anti Tag CoIP	19615732
Intra	BAP1	Q92560	HCFC1	Homo sapiens	P51610	TAP	27705803
Intra	BAP1	Q92560	HCFC1	Homo sapiens	P51610	Anti Tag CoIP	33961781
Intra	BAP1	Q92560	HCFC1	Homo sapiens	P51610	Anti Bait CoIP	24211834

Cross: Cross-species interaction Intra: Intraspecies interaction

BAP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82988	BAP1 Antibody (YA2733)	WB, IHC-P, FC	Human, Mouse, Rat
HY-P82988A	BAP1 Antibody (YA2733)(PBS only)	WB, IHC-P, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Kury-Isidor Syndrome	KURIS
Tumor Predisposition Syndrome 1	TPDS1 Tumor Predisposition Syndrome TPDS
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Mesothelioma, Malignant	Malignant Mesothelioma Pleural Mesothelioma MESOM Mesothelioma, Somatic Advanced Malignant Mesothelioma Asbestos-Related Malignant Mesothelioma Diffuse Malignant Mesothelioma Malignant Tumor Of Mesothelium Malignant Mesothelioma, Susceptibility To Mesothelioma Diffuse Malignant Mesothelioma Malignant Pleural Mesothelioma
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Melanoma, Uveal 2	Melanoma, Uveal, Susceptibility To, 2 UVM2
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Nevus Of Ota	Nevus Fusculoceruleus Ophthalmomaxillaris
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Malignant Pleural Mesothelioma	Malignant Mesothelioma Of Pleura Pleural Malignant Mesothelioma
Bainbridge-Ropers Syndrome	BRPS Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome Asxl3-Related Disorder
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Peritoneal Mesothelioma	Malignant Mesothelioma Of Peritoneum Advanced Malignant Mesothelioma Of Peritoneum Advanced Malignant Peritoneal Mesothelioma Advanced Peritoneal Malignant Mesothelioma
Mixed Cell Uveal Melanoma	Intraocular Mixed Cell Type Melanoma Mixed Cell Type Uveal Melanoma
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Peritoneum Cancer	Peritoneal Neoplasm Cancer Of Peritoneum Malignant Tumor Of Peritoneum Peritoneal Neoplasms
Cholangiocarcinoma	Cholangiocarcinoma, Susceptibility To Extrahepatic Cholangiocarcinoma Intrahepatic Cholangiocarcinoma Chlc Chlc, Susceptibility To Cc Cholangiocarcinoma Of Biliary Tract Cholangiocellular Carcinoma Distal Cholangiocarcinoma Perihilar Cholangiocarcinoma Bile Duct Cancer Cca Adult Primary Cholangiocellular Carcinoma Bile Duct Carcinoma
Choroid Cancer	Choroid Neoplasm Choroidal Tumor Malignant Tumor Of Choroid Malignant Tumor Of The Choroid Neoplasm Of Choroid Choroid Neoplasms Primary Malignant Neoplasm Of Choroid
Posterior Uveal Melanoma	Medium/Large Size Posterior Uveal Melanoma Small Size Posterior Uveal Melanoma Ciliary Body And Choroid Melanoma, Medium/Large Size Ciliary Body And Choroid Melanoma, Small Size
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Sarcomatoid Mesothelioma	Malignant Fibrous Mesothelioma Spindled Mesothelioma
Pericardial Mesothelioma	Malignant Mesothelioma Of Pericardium Malignant Pericardial Mesothelioma
Epithelioid Cell Melanoma	Epithelioid Melanoma
Pericardium Cancer	Malignant Neoplasm Of Pericardium Malignant Tumor Of Pericardium Pericardial Tumor Neoplasm Of Pericardium
Pleural Cancer	Pleural Neoplasms Neoplasm Of Pleura Pleural Tumor Malignant Tumor Of Pleura Pleural Cavity Cancer Primary Malignant Neoplasm Of Parietal Pleura Primary Malignant Neoplasm Of Pleura Primary Malignant Neoplasm Of Visceral Pleura
Rhabdoid Meningioma	Papillary Meningioma Meningioma, Rhabdoid
Uveal Disease	Uveal Diseases
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Spitzoid Melanoma	Atypical Spitz Nevus
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Pleural Disease	Pleural Diseases Disorder Of Pleura Non-Neoplastic Pleural Disease Pleural Disorders Non-Neoplastic Pleural Disorder
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Small Intestine Leiomyosarcoma	Leiomyosarcoma Of The Small Bowel Smooth Muscle Connective Tissue Tumor Leiomyosarcoma Of Small Intestine
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W327122	BAP1-IN-1	Inhibitor	99.86%	Unkown
HY-158774	TG2-179-1	Inducer	99.0%	Unkown
HY-169213	LN-439A	Inhibitor	/	Unkown
HY-N18934	Indigoidine	Inhibitor	/	Unkown
HY-RS01364	BAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07981	MAGI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12074	RNF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16963	Bap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20444	Magi1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23406	Bap1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26953	Magi1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BAP1	VGNC	VGNC:38379
Macaca mulatta	BAP1	VGNC	VGNC:70225
Felis catus	BAP1	VGNC	VGNC:69094
Mus musculus	BAP1	MGD	MGI:1206586
Bos taurus	BAP1	VGNC	VGNC:26419
Rattus norvegicus	BAP1	RGD	RGD:1311938
Others	BAP1	NCBI