FHIT (Bis(5'-adenosyl)-triphosphatase) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Skin cancer and 1 more.
Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP.
CIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.98, animal model 0.40, genetic association 0.71, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.
In plain words · FHIT (Bis(5'-adenosyl)-triphosphatase) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Skin cancer and 1 more.
FHIT (Bis(5'-adenosyl)-triphosphatase) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Skin cancer and 1 more.
Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP.
No product in this corpus aims at FHIT yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FHIT: RNA tissue enriched (choroid plexus 607 nTPM); blood lineage lineage enriched (T-cells 88 nTPM); high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Skin cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt P49789; CIViC gene FHIT; IntOGen FHIT; Human Protein Atlas FHIT tissue; Open Targets ENSG00000189283 associations
First described 1996. Earliest sequence paper UniProt cites for the protein: Ohta et al, Cell, 1996, "The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers". Source.
Sources: HGNC HGNC:3701 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P49789 (protein name, function text, keywords and locations (REST API)); CIViC gene FHIT (1 evidence items, 0 assertions, 2 variants; diseases: (GraphQL API, CC0)); Open Targets ENSG00000189283 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: ovarian cancer 0.54, skin cancer 0.52, breast cancer 0.65 (GraphQL API, CC0)); IntOGen FHIT (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Exhibits adenylylsulfatase activity, hydrolysing adenosine 5'-phosphosulfate to yield AMP and sulfate. Exhibits adenosine 5'-monophosphoramidase activity, hydrolysing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2. Exhibits adenylylsulfate-ammonia adenylyltransferase, catalysing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate. Location: Cytoplasm; Mitochondrion; Nucleus (UniProt). Locus 3p14.2 (HGNC).
RNA: tissue enriched (choroid plexus 607 nTPM), detected in all normal tissues. Blood: lineage enriched (T-cells 88 nTPM).
Medium: Adrenal gland, Appendix, Breast, Bronchus, Caudate, Cervix, Colon, Duodenum.
Medium only: breast cancer, cervical cancer, glioma, lung cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"FHIT" OR ABSTRACT:"FHIT" OR TITLE:"fragile histidine triad diadenosine triphosphatase" OR ABSTRACT:"fragile histidine triad diadenosine triphosphatase" OR TITLE:"Bis 5'-adenosyl -triphosphatase" OR ABSTRACT:"Bis 5'-adenosyl -triphosphatase" OR TITLE:"FRA3B" OR ABSTRACT:"FRA3B" OR TITLE:"AP3Aase" OR ABSTRACT:"AP3Aase") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about FHIT, not a curated reading list.