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  2. BAP1 - BRCA1 associated protein 1 Gene

BAP1 - BRCA1 associated protein 1 Gene

中文名称:BRCA1 相关蛋白 1

种属: Homo sapiens

同用名: UVM2; KURIS; TPDS1; UCHL2; hucep-6; HUCEP-13

基因 ID: 8314 | 基因类型: protein coding

关于 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.

功能概要

该基因属于去泛素化酶的泛素 C 端水解酶亚家族,参与从蛋白质中去除泛素。编码的酶通过后者的无名指结构域与乳腺癌 1 型易感蛋白 (BRCA1) 结合,并充当肿瘤抑制因子。此外,该酶可能参与转录调节、细胞周期和生长调节、对 DNA 损伤和染色质动力学的反应。该基因的种系突变可能与肿瘤易感综合征 (TPDS) 相关,这涉及增加患癌症的风险,包括恶性间皮瘤、葡萄膜黑色素瘤和皮肤黑色素瘤。[RefSeq 提供,2013 年 5 月]

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 基因产物(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

BAP1 蛋白结构

Peptidase_C12

Peptidase_C12: Ubiquitin carboxyl-terminal hydrolase, family 1 (4 - 214)

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  • 729 a.a.
蛋白主名 其他名称

ubiquitin carboxyl-terminal hydrolase BAP1

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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