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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
FHIT 2272 fragile histidine triad  3FRA3B, AP3Aase 







  • 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
24370550   2014Cell line : -

Source : -

Sample Type : CRC tumor

No. of Sample : 20

Stage : -

LOH, real-time RT-PCR, imunohistochemistryDown-regulation- FHIT gene may be associated with the progression of these malignant tumors.

23797051   2013Cell line : -

Source : -

Sample Type : Formalin-fixed paraffin-embedded tissue

No. of Sample : 116

Stage : Duke Stage A,B,C,D

Array CGH Hybridization and Analysis,Microsatellite Stability Profiling,MLPA Assay and Analysis,Methylation AnalysisHypermethylation-FHIT expression may be a valuable marker for CRC subtyping, and its diagnostic, prognostic, and therapeutic potential should be perused.

18426086   2005Cell line : -

Source : Croatian Tumor Bank

Sample Type : CRC tumor and normal tissue

No. of Sample : -

Stage : Duke Stage A,B,C

Sequence analysis, real time RT-PCRMutation-FHIT is frequently inactivated by exon skipping, intron retention, and activation of cryptic splice site within exon 6 in colorectal cancer.


Gene Details



NC_000003.11 (59735036..61237133, complement)

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Gene Type protein coding
Gene Family -
Description This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]  
Chromosome 3
Location 3p14.2
Start 59735036  
End 61237133  
Strand -  
Gene Sequence

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Length 1502098  
OMIM ID 601153   
HGNC ID HGNC:3701   
Unigene ID Hs.655995   
Ensembl ID ENSG00000189283   
PharmGKB ID PA28140   

mRNA Information


mRNA ID XM_011533481.1
Exon join(20..159,50795..50843,209361..209413,429449..429541, 543636..543707,714481..714600,1237308..1237453, 1240060..1240089,1329046..1329114,1499139..1499239, 1501881..1503873)  
mRNA Sequence

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Length 2866  



CDS Information


   
Location425..868
CDS Sequence

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CCDS ID CCDS2894.1



Protein Information


      
Protein IDXP_011531783.1
Protein Namefragile histidine triad
Molecular Wt. (Da)16727
Protein Sequence

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Length 147  
Uniprot IDO00194
Ensembl Protein ID ENSP00000262094  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation114

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                              
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
2232FDXR60NP_004101.2in vitro19004824   
3329HSPD1318NP_002147.2in vitro19004824   


Pathway Information


                  
Pathway Name Pathway ID
Non-small cell lung cancer hsa05223
Purine metabolism hsa00230
Small cell lung cancer hsa05222


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd012755-124  FHIT
cl002285-124  HIT_like superfamily
cd0046816-101  HIT_like
pfam0123012-105  HIT
COG053712-106  Hit
cd0127712-102  HINT_subgroup
cd0127612-100  PKCI_related
pfam1196912-100  DcpS_C


Ontology Information


   
HPRD ID3627
Molecular ClassEnzyme: Hydrolase
Molecular FunctionGTPase activity (GO:0003924)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


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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