Human Gene FHIT (ENST00000476844.5) from GENCODE V44
Description: Cleaves A-5'-PPP-5'A to yield AMP and ADP. Possible tumor suppressor for specific tissues. (from UniProt P49789) RefSeq Summary (NM_001166243): The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]. Gencode Transcript: ENST00000476844.5 Gencode Gene: ENSG00000189283.11 Transcript (Including UTRs) Position: hg38 chr3:59,749,310-61,251,413 Size: 1,502,104 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr3:59,752,226-60,536,962 Size: 784,737 Coding Exon Count: 5
ID:FHIT_HUMAN DESCRIPTION: RecName: Full=Bis(5'-adenosyl)-triphosphatase; EC=3.6.1.29; AltName: Full=AP3A hydrolase; Short=AP3Aase; AltName: Full=Diadenosine 5',5'''-P1,P3-triphosphate hydrolase; AltName: Full=Dinucleosidetriphosphatase; AltName: Full=Fragile histidine triad protein; FUNCTION: Cleaves A-5'-PPP-5'A to yield AMP and ADP. Possible tumor suppressor for specific tissues. CATALYTIC ACTIVITY: P(1)-P(3)-bis(5'-adenosyl) triphosphate + H(2)O = ADP + AMP. COFACTOR: Divalent cations. Magnesium, but manganese and to a lesser extent calcium or cobalt can be substituted; but not zinc, cadmium or nickel. SUBUNIT: Homodimer. INTERACTION: P22570:FDXR; NbExp=4; IntAct=EBI-741760, EBI-1751533; P10809:HSPD1; NbExp=5; IntAct=EBI-741760, EBI-352528; P61604:HSPE1; NbExp=4; IntAct=EBI-741760, EBI-711483; SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines. MASS SPECTROMETRY: Mass=16733; Method=MALDI; Range=2-147; Source=PubMed:15007172; DISEASE: Note=A chromosomal aberration involving FHIT has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation t(3;8)(p14.2;q24.1) with RNF139. Although the 3p14.2 breakpoint has been shown to interrupt FHIT in its 5-prime non-coding region, it is unlikely that FHIT is causally related to renal or other malignancies. DISEASE: Note=Associated with digestive tract cancers. Numerous tumor types are found to have aberrant forms of FHIT protein due to deletions in a coding region of chromosome 3p14.2 including the fragile site locus FRA3B. SIMILARITY: Contains 1 HIT domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FHITID192ch3p14.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49789
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006163 purine nucleotide metabolic process GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006915 apoptotic process GO:0009117 nucleotide metabolic process GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
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