TPI1 Gene Summary [Human]
This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Details
| Type | Protein Coding |
| Official Symbol | TPI1 |
| Official Name | triosephosphate isomerase 1 [Source:HGNC Symbol;Acc:HGNC:12009] |
| Ensembl ID | ENSG00000111669 |
| Bio databases IDs | |
| Aliases | triosephosphate isomerase 1 |
| Synonyms | HEL-S-49, LOC100911515, TIM, TPI, TPID, Triosephosphate isomerase, Triosephosphate isomerase 1 |
| 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 TPI1 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
- Triosephosphate isomerase
- TIM-like beta/alpha barrel domains
- methylglyoxal synthase
- protein homodimerization
- isomerase
- enzyme
- triose-phosphate isomerase
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- morbid obesity
- Huntington disease
- triosephosphate isomerase deficiency
- obesity
- atopic dermatitis
- gastric adenocarcinoma
- gastric epithelial cancer
- breast cancer
- rheumatoid arthritis
regulates
- D-glucose
- DDIT3
- reactive oxygen species
- glyceraldehyde-3-phosphate
- dihydroxyacetone phosphate
role in cell
- induction in
- gluconeogenesis in
- glycolysis in
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
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- methylglyoxal biosynthetic process
- glyceraldehyde-3-phosphate biosynthetic process
- glycolysis
- glycerol catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- protein homodimerization activity
- methylglyoxal synthase activity
- triose-phosphate isomerase activity