HK1 Gene Summary [Human]
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | HK1 |
| Official Name | hexokinase 1 [Source:HGNC Symbol;Acc:HGNC:4922] |
| Ensembl ID | ENSG00000156515 |
| Bio databases IDs | |
| Aliases | hexokinase 1 |
| Synonyms | CNSHA5, dea, HEXOKIN, hexokinase, hexokinase 1, HK, Hk1-s, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, mHk1-s, NEDVIBA, NMSR, RP79 |
| 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 HK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- mitochondrial presequence
- protein kinase
- regulatory domain
- catalytic domain
- ATP binding
- glucose binding
- PLN02914
- glucokinase
- fructokinase
- protein binding
- identical protein binding
- kinase
- binding protein
- peptidoglycan binding
- mannokinase
- hexokinase
- ASKHA_ATPase-like
Pathways
Biological processes and signaling networks where the HK1 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
- neoplasia
- diabetes mellitus
- non-insulin-dependent diabetes mellitus
- limited systemic sclerosis
- colorectal cancer
- hyperlipidemia
- metabolic disorder
- hereditary disorder
- retinal dystrophy
- neurodevelopmental disorder with visual defects and brain anomalies
role in cell
- growth
- cell viability
- apoptosis
- proliferation
- phosphorylation in
- cell death
- production in
- migration
- permeability
- injury
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
- myelin enriched fraction
- membrane fraction
- mitochondrial fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cell periphery
- cellular membrane
- Mitochondria
- granules
- cytosol
- caveolae
- mitochondrial outer membrane
- cytoplasmic droplets
- Z line
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycolysis
- mannose metabolic process
- fructose 6-phosphate metabolic process
- glucose metabolic process
- carbohydrate phosphorylation
- positive regulation of cytokine production involved in immune response
- glucose 6-phosphate metabolic process
- inflammatory response
- cellular glucose homeostasis
- innate immune response
- maintenance of protein location in mitochondrion
- establishment of protein localization in mitochondrion
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- membrane raft
- mitochondrion
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- glucose binding
- ATP binding
- peptidoglycan binding
- protein binding
- glucokinase activity
- glucosamine kinase activity
- mannokinase activity
- hexokinase activity
- fructokinase activity