• Gene id: 8314

Gene Summary

• Gene Symbol: BAP1   Gene   UCSC   Ensembl
• Aliases: HUCEP-13, UCHL2, hucep-6
• Gene name: BRCA1 associated protein 1
• Alternate names: ubiquitin carboxyl-terminal hydrolase BAP1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase), cerebral protein 6, cerebral protein-13,
• Gene location: 3p21.1 (52410029: 52401003)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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 fin
• OMIM: 603408

Protein Summary

• Protein general information: Q92560  
  • Name: Ubiquitin carboxyl terminal hydrolase BAP1 (EC 3.4.19.12) (BRCA1 associated protein 1) (Cerebral protein 6)
  • Length: 729  
  • Mass: 80362
  • Tissue specificity: Highly expressed in testis, placenta and ovary. Expressed in breast. {ECO
• Sequence:

  MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRRKVSTLVDDTSVIDDD
  IVNNMFFAHQLIPNSCATHALLSVLLNCSSVDLGPTLSRMKDFTKGFSPESKGYAIGNAPELAKAHNSHARPEPR
  HLPEKQNGLSAVRTMEAFHFVSYVPITGRLFELDGLKVYPIDHGPWGEDEEWTDKARRVIMERIGLATAGEPYHD
  IRFNLMAVVPDRRIKYEARLHVLKVNRQTVLEALQQLIRVTQPELIQTHKSQESQLPEESKSASNKSPLVLEANR
  APAASEGNHTDGAEEAAGSCAQAPSHSPPNKPKLVVKPPGSSLNGVHPNPTPIVQRLPAFLDNHNYAKSPMQEEE
  DLAAGVGRSRVPVRPPQQYSDDEDDYEDDEEDDVQNTNSALRYKGKGTGKPGALSGSADGQLSVLQPNTINVLAE
  KLKESQKDLSIPLSIKTSSGAGSPAVAVPTHSQPSPTPSNESTDTASEIGSAFNSPLRSPIRSANPTRPSSPVTS
  HISKVLFGEDDSLLRVDCIRYNRAVRDLGPVISTGLLHLAEDGVLSPLALTEGGKGSSPSIRPIQGSQGSSSPVE
  KEVVEATDSREKTGMVRPGEPLSGEKYSPKELLALLKCVEAEIANYEACLKEEVEKRKKFKIDDQRRTHNYDEFI
  CTFISMLAQEGMLANLVEQNISVRRRQGVSIGRLHKQRKPDRRKRSRPYKAKRQ

• Structural information:
  • Interpro: IPR038765  IPR001578  IPR036959  IPR041507  
  • DIP: 47004
  • STRING: ENSP00000417132
• Other Databases: GeneCards:  BAP1  Malacards:  BAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0035522	monoubiquitinated histone H2A deubiquitination	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0035522	monoubiquitinated histone H2A deubiquitination	IDA	biological process
GO:0035520	monoubiquitinated protein deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0035517	PR-DUB complex	IDA	cellular component
GO:0035517	PR-DUB complex	IDA	cellular component
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0001558	regulation of cell growth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071108	protein K48-linked deubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IMP	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IMP	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IMP	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:1900015	regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0061519	macrophage homeostasis	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008233	peptidase activity	NAS	molecular function
GO:0006464	cellular protein modification process	NAS	biological process

Diseases

Associated diseases	References
basal cell carcinoma	PMID:25080371
Uveal melanoma	PMID:25147369
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq