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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
BAP1 8314 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)  3hucep-6, KIAA0272, UCHL2 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23526420   2013Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : 8 cases of CRC tissues and matched adjacent non-cancerous tissues

Stage : -

real time RT-PCR, Western Blotting, ImmunohistochemistryDown-regulation-reduced BAP1 expression is associated with poor prognosis of CRC and BAP1 may serve as a novel prognostic biomarker for CRC.

mRNA and protein levels of BAP1 were down-regulated in 6 out of 8 cases of CRC tissues compared with their adjacent non-cancerous tissues.


Gene Details



Chromosome 3 - NC_000003.12 (52401004..52410105, complement)

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Gene Type protein coding
Gene Family
Description 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.  
Chromosome 3
Location 3p21.31-p2
Start 52401004  
End 52410105  
Strand -  
Gene Sequence

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Length 9102  
OMIM ID 603089   
HGNC ID HGNC:950   
Unigene ID Hs.106674   
Ensembl ID ENSG00000163930   
PharmGKB ID -   

mRNA Information


mRNA ID NM_004656.3
Exon join(1..264,363..392,498..552,1500..1632,2029..2148, 2646..2707,2790..2932,3199..3277,3730..3853,4194..4341, 4812..4996,5520..5653,6212..6690,6808..6968,7235..7327, 7432..7504,7685..9102)  
mRNA Sequence

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Length 3717  



CDS Information


   
Locationjoin(228..264,363..392,498..552,1500..1632,2029..2148, 2646..2707,2790..2932,3199..3277,3784..3853,4194..4341, 4812..4996,5520..5653,6212..6690,6808..6968,7166..7327, 7432..7504,7685..7818)
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDNP_004647.1
Protein NameBRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Molecular Wt. (Da)80231
Protein Sequence

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Length 729  
Uniprot IDP35225
Ensembl Protein ID ENSP00000304915  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation487
SPhosphorylation489
SPhosphorylation592;-
SPhosphorylation597;-
SPhosphorylation583;-
SPhosphorylation384;-
YPhosphorylation394;-
SPhosphorylation395
SPhosphorylation582
SPhosphorylation595
SPhosphorylation585
SPhosphorylation596
SPhosphorylation327
SPhosphorylation521
SPhosphorylation292
SPhosphorylation369
SPhosphorylation464

Enzyme Information


   
EC3.4.19.12
Nameubiquitinyl hydrolase 1
ubiquitin C-terminal hydrolase
yeast ubiquitin hydrolase
ClassHydrolases; Acting on peptide bonds (peptidases); Omega peptidases
Sysname  
Substrate  
Product  
Reaction (IUBMB)



PPi Information


(Click to view network : Source STRING)      View   

               
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
672BRCA1218NP_009231.2in vitro;in vivo;yeast 2-hybrid9528852   


Pathway Information


No matching records could be found.

Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd096175-233  Peptidase_C12_UCH37_BAP1
cl083065-233  Peptidase_C12 superfamily
pfam010884-214  Peptidase_C12
cd022555-233  Peptidase_C12
cd096165-232  Peptidase_C12_UCH_L1_L3


Ontology Information


   
HPRD ID4329
Molecular ClassUbiquitin proteasome system protein
Molecular FunctionCytokine activity (GO:0005125)
Biological ProcessImmune response (GO:0006955)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO