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Description for Protein FHIT

fragile histidine triad gene
6 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available

Gene Ontology:
Gene Ontology Annotations

KEGG - Enzyme ID(s):
3.6.1.29
KEGG - Orthology:
K01522
KEGG - Pathway(s):
hsa00230; hsa05222; hsa05223
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
AP3A hydrolase; FRA3B; Bis(5`-adenosyl)-triphosphatase; Dinucleosidetriphosphatase; AP3AASE
Approved Symbol:
FHIT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites

Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adenosine Monotungstate(db);
  • Ado-P-Ch2-P-Ps-Ado(db);
  • Fructose(db)


    Associated Genetic Diseases:

    None Available
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 03096 Entrez Gene ID: 2272 OMIM ID: 601153 Swissprot Accession: P49789A8K1A9Q45QG9