Gene Gene information from NCBI Gene database.
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.
45
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.
1
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.
37
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.
MIM HGNC e!Ensembl
601153 3701 ENSG00000189283
Protein Protein information from UniProt database.
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.
  KEGG 
  Purine metabolism
Metabolic pathways
Small cell lung cancer
Non-small cell lung cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
51
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASPERGER SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Abnormalities Drug Induced Associate 18592004
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Associate 11170287, 11461085, 12765416, 15150628, 16237777, 17348444, 18663352, 31001805
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Inhibit 12865924
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 25401976, 38069335
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Stimulate 35254116
★☆☆☆☆
Found in Text Mining only
Adenoma Associate 12890744, 25091577
★☆☆☆☆
Found in Text Mining only
Adenoma Inhibit 14760383
★☆☆☆☆
Found in Text Mining only
Aneuploidy Associate 23019410, 30737237
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Associate 28289900
★☆☆☆☆
Found in Text Mining only
Anus Neoplasms Associate 17393360
★☆☆☆☆
Found in Text Mining only