FHIT

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Bis(5'-adenosyl)-triphosphatase also known as fragile histidine triad protein (FHIT) is an enzyme that in humans is encoded by the FHIT gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesFHIT, AP3Aase, FRA3B, fragile histidine triad, tríada histidina fràgil, fragile histidine triad diadenosine triphosphatase
Quick facts Available structures, PDB ...
FHIT
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFHIT, AP3Aase, FRA3B, fragile histidine triad, tríada histidina fràgil, fragile histidine triad diadenosine triphosphatase
External IDsOMIM: 601153; MGI: 1277947; HomoloGene: 21661; GeneCards: FHIT; OMA:FHIT - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010210
NM_001308285
NM_001308286
NM_001360141

RefSeq (protein)

NP_001295214
NP_001295215
NP_034340
NP_001347070

Location (UCSC)Chr 3: 59.75 – 61.25 MbChr 14: 11.31 – 12.92 Mb
PubMed search[3][4]
Wikidata
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Function

FHIT is also known as human accelerated region 10. It may, therefore, have played a key role in differentiating humans from apes.[7]

This gene, a member of the histidine triad gene family, encodes a diadenosine P1,P3-bis(5'-adenosyl)-triphosphate adenylohydrolase 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.[8]

Though the exact molecular function of FHIT is still partially unclear, the gene works as a tumor suppressor as it has been demonstrated in animal studies.[9][10][11] Furthermore FHIT has been shown to synergize with VHL, another tumor suppressor, in protecting against chemically - induced lung cancer.[12]

FHIT also acts as a tumor suppressor of HER2/neu driven breast cancer.[13]

Interactions

FHIT has been shown to interact with UBE2I.[14]

References

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