Gene
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.
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 factor Regulation Reference
E2F1 Repression 15044096
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 18077326, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601153 3701 ENSG00000189283
Protein
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.
  KEGG  
  Purine metabolism
Metabolic pathways
Small cell lung cancer
Non-small cell lung cancer
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16061637
Colorectal neoplasms Secondary malignant neoplasm of colon and/or rectum rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
30738427
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
12958204
Intracranial aneurysm Intracranial Aneurysm rs1594095223 29531279
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 28753643 ClinVar
Coronary syndrome Acute Coronary Syndrome 28753643 ClinVar
Hereditary renal carcinoma Hereditary clear cell renal cell carcinoma ClinVar
Mental depression Unipolar Depression, Major Depressive Disorder 28049566, 30718901, 30626913 ClinVar
Associations from Text Mining
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