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Ask your administrator if you think this is wrong. ======= FHIT ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FHIT * **<color #00a2e8>Official Name</color>**: fragile histidine triad diadenosine triphosphatase * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2272|2272]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P49789|P49789]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FHIT&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FHIT|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601153|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'- adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low- affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor. {ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915, ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732, ECO:0000269|PubMed:9323207}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |DcpS C| |HIT| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |bis(5-adenosyl)-triphosphatase activity| |negative regulation of proteasomal ubiquitin-dependent protein catabolic process| |catalytic activity| |negative regulation of ubiquitin-dependent protein catabolic process| |intrinsic apoptotic signaling pathway by p53 class mediator| |negative regulation of proteasomal protein catabolic process| |nucleotide binding| |negative regulation of proteolysis involved in cellular protein catabolic process| |hydrolase activity| |negative regulation of cellular protein catabolic process| |signal transduction by p53 class mediator| |regulation of proteasomal ubiquitin-dependent protein catabolic process| |fibrillar center| |negative regulation of protein catabolic process| |intrinsic apoptotic signaling pathway| |regulation of ubiquitin-dependent protein catabolic process| |regulation of proteasomal protein catabolic process| |regulation of proteolysis involved in cellular protein catabolic process| |regulation of cellular protein catabolic process| |negative regulation of cellular catabolic process| |apoptotic signaling pathway| |ubiquitin protein ligase binding| |negative regulation of catabolic process| |purine nucleotide metabolic process| |negative regulation of proteolysis| |purine-containing compound metabolic process| |regulation of protein catabolic process| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |nucleobase-containing small molecule metabolic process| |regulation of proteolysis| |regulation of cellular catabolic process| |organophosphate metabolic process| |apoptotic process| |regulation of catabolic process| |negative regulation of cellular protein metabolic process| |programmed cell death| |identical protein binding| |cell death| |negative regulation of protein metabolic process| |mitochondrion| |intracellular signal transduction| |small molecule metabolic process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 8998 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.97 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FHIT Expression in NALM6 Cells: 1.97'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1