FHIT (fragile histidine triad diadenosine triphosphatase)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2272
Gene name Gene Name - the full gene name approved by the HGNC.
Fragile histidine triad diadenosine triphosphatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FHIT
Synonyms (NCBI Gene) Gene synonyms aliases
AP3Aase, FRA3B
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Repression 15044096
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601153 3701 ENSG00000189283
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (15)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia N/A N/A GWAS
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event), Colorectal cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Show/Hide Text Mining Associations (144)
Associations from Text Mining Disease 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