TPK1 Gene Summary [Human]
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TPK1 |
| Official Name | thiamin pyrophosphokinase 1 [Source:HGNC Symbol;Acc:HGNC:17358] |
| Ensembl ID | ENSG00000196511 |
| Bio databases IDs | |
| Aliases | thiamin pyrophosphokinase 1, placental protein 20, thiamine pyrophosphokinase 1, thiamine kinase, thiamine diphosphokinase |
| Synonyms | HTPK1, LOC686257, PP20, thiamine pyrophosphokinase, thiamin pyrophosphokinase 1, THMD5 |
| 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 TPK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Thiamin pyrophosphokinase, catalytic domain
- thiamine pyrophosphokinase
- diphosphotransferase
- thiamine diphosphokinase
- Thiamin pyrophosphokinase, vitamin B1 binding domain
- protein binding
- identical protein binding
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 TPK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- thiamine metabolic process
- thiamine diphosphate biosynthetic 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 diphosphokinase activity
- thiamine binding
- ATP binding
- identical protein binding
- protein binding
- kinase activity