FHIT

                                                                                                 (fragile histidine triad gene)

  • Alias                                 (According to NCBI)

 
  • AP3Aase
  • FRA3B
  • bis(5'-adenosyl)-triphosphatase
  • dinucleosidetriphosphatase
  • AP3A hydrolase
  • diadenosine 5',5'''-P1,P3-triphosphate hydrolase
  • fragile histidine triad gene
  • Bis(5'-adenosyl)-triphosphatase (EC 3.6.1.29) (Diadenosine 5',5'''- P1,P3-triphosphate hydrolase) (Dinucleosidetriphosphatase) (AP3A hydrolase) (AP3AASE) (Fragile histidine triad protein).

  • 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.
  • Location:3p14.2
  • 6 Exons
  • DNA Sequence: NT_022517

  • CGH (3p14.2):  Losses (%)  -30.7 Gain (%)  0.6 
  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size:147 amino acids; 16858 Da
  • Catalytic activity: P(1),P(3)-bis(5'-adenosyl)triphosphate + H(2)O = ADP + AMP
  • Protein domains:

                       

  • Protein sequence: P49789
  • Homologous sequences:
  • 2D PAGE:
  • 3D Structure: 1FIT
  • PTM: FHIT
  • Pathways and interactions (According to BioCarta, DIP)
  • Clinical                            (According to OMIM, PubMed)