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MGP001439

UniProt Annotations

Entry Information
Gene Namehexokinase 1
Protein EntryHXK1_HUMAN
UniProt IDP19367
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Common; IsoId=P19367-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte, R; IsoId=P19367-2; Sequence=VSP_002071; Name=3; Synonyms=TA, TB; IsoId=P19367-3; Sequence=VSP_002072; Name=4; Synonyms=TD; IsoId=P19367-4; Sequence=VSP_002073;
Catalytic ActivityATP + D-hexose = ADP + D-hexose 6-phosphate.
DiseaseHereditary motor and sensory neuropathy, Russe type (HMSNR) [MIM:605285]: 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. {ECO:0000269|PubMed:19536174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. {ECO:0000269|PubMed:12393545, ECO:0000269|PubMed:7655856}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule.
Enzyme RegulationHexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
InteractionP21796:VDAC1; NbExp=2; IntAct=EBI-713162, EBI-354158;
MiscellaneousIn vertebrates there are four major glucose- phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).
PathwayCarbohydrate metabolism; hexose metabolism.
SimilarityBelongs to the hexokinase family. {ECO:0000305}.
SimilarityContains 2 hexokinase type-1 domains. {ECO:0000305}.
SimilarityContains 2 hexokinase type-2 domains. {ECO:0000305}.
Subcellular LocationMitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.
SubunitMonomer. Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with VDAC1. The HK1-VDAC1 complex interacts with ATF2. Interacts (via N-terminal spermatogenic cell-specific region) with PFKM (via C- terminus) (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P17710, ECO:0000269|PubMed:10574795, ECO:0000269|PubMed:10686099, ECO:0000269|PubMed:22304920, ECO:0000269|PubMed:9493266}.
Tissue SpecificityIsoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.
Web ResourceName=Wikipedia; Note=Hexokinase entry; URL="http://en.wikipedia.org/wiki/Hexokinase";
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