Summary of HK1
This gene encodes a protein that plays a role in the glucose metabolism pathway. Mutations are associated with anemia (R).
Protein names
Recommended name:
Hexokinase-1Short name:
HK IAlternative name(s):
Brain form hexokinaseHexokinase type I
- RS10159477 (HK1) ??
- RS16926246 (HK1) ??
- RS7072268 (HK1) ??
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Top Gene-Substance Interactions
HK1 Interacts with These Diseases
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Substances That Increase HK1
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Substances That Decrease HK1
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Advanced Summary
From NCBI Gene: Hemolytic anemia due to hexokinase deficiencyCharcot-Marie-Tooth disease, type 4GFrom UniProt: Hexokinase deficiency (HK deficiency): Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. [MIM:235700] Neuropathy, hereditary motor and sensory, Russe type (HMSNR): An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. [MIM:605285]
From NCBI Gene: 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]
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.
Gene Pathways:
- Metabolic pathways
- Metabolism
- Disease
- Fructose and mannose metabolism
- Insulin signaling pathway
- Amino sugar and nucleotide sugar metabolism
- Glycolysis / Gluconeogenesis
- Transmembrane transport of small molecules
- Metabolism
- Type II diabetes mellitus
- Galactose metabolism
- Starch and sucrose metabolism
- Carbohydrate digestion and absorption
- Butirosin and neomycin biosynthesis
Enzyme Regulation:
Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
Molecular Function:
- Atp Binding
- Fructokinase Activity
- Glucokinase Activity
- Glucose Binding
- Hexokinase Activity
- Mannokinase Activity
Biological Processes:
- Canonical Glycolysis
- Cellular Glucose Homeostasis
- Establishment Of Protein Localization To Mitochondrion
- Glucose Transport
- Glycolytic Process
- Maintenance Of Protein Location In Mitochondrion