KHK Gene Summary [Human]
This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KHK |
| Official Name | ketohexokinase [Source:HGNC Symbol;Acc:HGNC:6315] |
| Ensembl ID | ENSG00000138030 |
| Bio databases IDs | |
| Aliases | ketohexokinase, fructokinase |
| Synonyms | Fructokinase, FRUCTU, KETHPRO, ketohexokinase |
| 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 KHK 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
- ribokinase_pfkB_like
- monosaccharide binding
- ribokinase
- ketohexokinase
- ATP binding
- protein homodimerization
- protein binding
- pfkB family carbohydrate kinase
- 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.
disease
- essential fructosuria
role in cell
- expression in
- cell viability
- survival
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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KHK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to glucose stimulus
- response to zinc ion
- response to insulin stimulus
- response to fructose stimulus
- fructose metabolic process
- regulation of glycogen metabolic process
- carbohydrate phosphorylation
- response to sucrose stimulus
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- ketohexokinase activity