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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
BRIP1 83990 BRCA1 interacting protein C-terminal helicase 1  17OF, BACH1, FANCJ 







  • 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
22526901   2012Cell line : -

Source : -

Sample Type : CRC tissue and blood sample

No. of Sample : 219 patients with CRC.

Stage : -

ImmunohistochemistryUp-regulation-FANCJ could be a useful biomarker to predict the response to 5-FU and prognosis of CRC, particularly in tumors with normal MLH1 expression.

FANCJ expression was elevated in tumor tissues compared with normal epithelial tissue. High expression of FANCJ was significantly associated with 5-FU resistance measured by the SDI test (P < 0.05) and poor recurrence-free survival (RFS) (P < 0.05).


Gene Details



Chromosome 17 - NC_000017.1161679186..61863937, complement)

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Gene Type protein coding
Gene Family Fanconi anemia, complementation groups
Description The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations.  
Chromosome 17
Location 17q22.2
Start 61679186  
End 61863937  
Strand -  
Gene Sequence

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Length 184752  
OMIM ID 605882   
HGNC ID HGNC:20473   
Unigene ID Hs.128903   
Ensembl ID ENSG00000136492   
PharmGKB ID -   

mRNA Information


mRNA ID NM_032043.2
Exon join(379..654,2369..2491,4031..4142,6707..6880, 14682..14809,16718..16837,55181..55471,62464..62685, 64639..64838,70209..70341,79514..79668,82933..83098, 83537..83677,87376..87537,119347..119506,120804..120925, 147875..147987,170426..170508,177773..178102, 179798..184752)  
mRNA Sequence

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Length 8166  



CDS Information


   
Location join(2399..2491,4031..4142,6707..6880,14682..14809, 16718..16837,55181..55471,62464..62685,64639..64838, 70209..70341,79514..79668,82933..83098,87376..87537, 119347..119506,120804..120925,147875..147987, 170426..170508,177773..178102,179798..180642)
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDNP_114432.2
Protein NameBRCA1 interacting protein C-terminal helicase 1
Molecular Wt. (Da)140737
Protein Sequence

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Length 1249  
Uniprot IDP49917
Ensembl Protein ID ENSP00000349393  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1032
YPhosphorylation916
SPhosphorylation930
TPhosphorylation918
YPhosphorylation921
SPhosphorylation927
SPhosphorylation990
SPhosphorylation77
TPhosphorylation584
SPhosphorylation1237
SPhosphorylation542
SPhosphorylation956
YPhosphorylation1011
TPhosphorylation1013
SPhosphorylation961
SPhosphorylation964

Enzyme Information


   
EC3.6.4.12
NameDNA helicase
3' to 5' DNA helicase
3'-5' DNA helicase
3'-5' PfDH
5' to 3' DNA helicase
AvDH1
BACH1 helicase
BcMCM
BLM protein
BRCA1-associated C-terminal helicase
CeWRN-1
Dbp9p
DmRECQ5
DNA helicase 120
DNA helicase A
DNA helicase E
DNA helicase II
DNA helicase III
DNA helicase RECQL5beta
DNA helicase VI
dnaB
DnaB helicase E1
helicase HDH IV
Hel E
helicase DnaB
helicase domain of bacteriophage T7 gene 4 protein helicase
PcrA helicase
UvrD
hHcsA
Hmi1p
hPif1
MCM helicase
MCM protein
MER3 helicase
MER3 protein
MPH1
PcrA
PcrA helicase
PDH120
PfDH A
Pfh1p
PIF1
ClassHydrolases; Acting on acid anhydrides; Acting on acid anhydrides to facilitate cellular and subcellular movement
SysnameATP phosphohydrolase (DNA helix unwinding)  
SubstrateATP [CPD:C00002]; H2O  
ProductADP [CPD:C00008]; phosphate  
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 vivo113   010   101   524   259   000   000   000   


Pathway Information


      
Pathway Name Pathway ID
Fanconi anemia pathway hsa03460


Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam06733248-415  DEAD_2
cl21455248-415  P-loop_NTPase superfamily
pfam13307680-865  Helicase_C_2
cl21455680-865  P-loop_NTPase superfamily
smart0048815-427  DEXDc2
smart00491698-849  HELICc2
TIGR00604245-881  rad3
COG1199238-887  DinG
TIGR01407606-884  dinG_rel
PRK0807418-61  PRK08074
TIGR0140723-71  dinG_rel
smart0048713-72  DEXDc
PRK11747350-425  dinG


Ontology Information


   
HPRD ID3585
Molecular ClassCytoskeletal associated protein
Molecular FunctionProtein serine/threonine kinase activity (GO:0004674)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



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