TKTL1 Gene Summary [Human]
The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | TKTL1 |
| Official Name | transketolase like 1 [Source:HGNC Symbol;Acc:HGNC:11835] |
| Ensembl ID | ENSG00000007350 |
| Bio databases IDs | |
| Aliases | transketolase like 1 |
| Synonyms | C79967, LOC103689980, TKR, TKT2, Transketolase 2, transketolase-like 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 TKTL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transketolase, pyrimidine binding domain
- TPP_enzymes
- transketolase
- Transketolase, thiamine diphosphate binding domain
- enzyme
- Transketolase, C-terminal domain
- thiamine pyrophosphate-dependent enzyme pyrimidine binding domain
- transketolase, bacterial and yeast
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TKTL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- thiamine metabolic process
- glucose catabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- thiamine pyrophosphate binding
- transketolase activity
- metal ion binding