FHIT Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FHIT |
| Official Name | fragile histidine triad diadenosine triphosphatase [Source:HGNC Symbol;Acc:HGNC:3701] |
| Ensembl ID | ENSG00000189283 |
| Bio databases IDs | |
| Aliases | fragile histidine triad diadenosine triphosphatase, bis(5'-adenosyl)-triphosphatase |
| Synonyms | AP3Aase, Fra14A2, FRA3B, fragile histidine triad diadenosine triphosphatase, fragile histidine triad gene, LOC102552150 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FHIT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- adenylylsulfatase
- linear amide carbon-nitrogen bond hydrolase
- nickel ion binding
- adenylylsulfate-ammonia adenylyltransferase
- Bis(5'-adenosyl)-triphosphatase
- enzyme
- protein binding
- identical protein binding
- phosphorylation site
- HIT_like
Pathways
Biological processes and signaling networks where the FHIT gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- colon carcinoma
- colorectal cancer
- dementia
- schizophrenia
- neoplasia
- organismal death
- prostate cancer
- epithelial cancer
- major depression
role in cell
- cell death
- apoptosis
- cell viability
- expression in
- formation
- activation in
- proliferation
- migration
- survival
- cell cycle progression
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- fibrillar center
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FHIT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- purine nucleotide metabolic process
- signal transduction by p53 class mediator resulting in induction of apoptosis
- diadenosine triphosphate catabolic process
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- mitochondrion
- cytosol
- fibrillar center
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- adenylylsulfate-ammonia adenylyltransferase activity
- identical protein binding
- ubiquitin protein ligase binding
- protein binding
- adenosine 5'-monophosphoramidase activity
- bis(5'-adenosyl)-triphosphatase activity
- adenylylsulfatase activity