FHIT (fragile histidine triad diadenosine triphosphatase)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2272
Gene name Fragile histidine triad diadenosine triphosphatase
Gene symbol FHIT
Synonyms (NCBI Gene)
AP3AaseFRA3B
Chromosome 3
Chromosome location 3p14.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT006362 hsa-miR-143-3p Luciferase reporter assay 21711110
MIRT006362 hsa-miR-143-3p Luciferase reporter assay 21711110
MIRT006363 hsa-miR-217 Luciferase reporter assay 21711110
MIRT006364 hsa-miR-331-3p Luciferase reporter assay 21711110
MIRT006365 hsa-miR-625-5p Luciferase reporter assay 21711110
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
E2F1 Repression 15044096
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001650 Component Fibrillar center IDA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 18077326, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601153 3701 ENSG00000189283
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49789
Protein name Bis(5'-adenosyl)-triphosphatase (EC 3.6.1.29) (AP3A hydrolase) (AP3Aase) (Adenosine 5'-monophosphoramidase FHIT) (EC 3.9.1.-) (Adenylylsulfatase) (EC 3.6.2.1) (Adenylylsulfate-ammonia adenylyltransferase) (EC 2.7.7.51) (Diadenosine 5',5'''-P1,P3-triphosph
Protein function Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:125745
PDB 1FHI , 1FIT , 2FHI , 2FIT , 3FIT , 4FIT , 5FIT , 6FIT , 7P8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01230 HIT 9 → 105 HIT domain Domain
Tissue specificity 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.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Purine metabolism
Metabolic pathways
Small cell lung cancer
Non-small cell lung cancer 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs137953369 RCV005907304
FHIT-related disorder Likely benign rs533270218, rs112639626 RCV003944404
RCV003979103
Lip and oral cavity carcinoma association rs11130760 RCV000496002
Ovarian serous cystadenocarcinoma Benign rs137953369 RCV005907305
Show/Hide Text Mining Associations (144)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 18592004
Adenocarcinoma Associate 11170287, 11461085, 12765416, 15150628, 16237777, 17348444, 18663352, 31001805
Adenocarcinoma Inhibit 12865924
Adenocarcinoma of Lung Associate 25401976, 38069335
Adenocarcinoma of Lung Stimulate 35254116
Adenoma Associate 12890744, 25091577
Adenoma Inhibit 14760383
Aneuploidy Associate 23019410, 30737237
Anophthalmia with pulmonary hypoplasia Associate 28289900
Anus Neoplasms Associate 17393360