HK1, Hexokinase-1, Brain form hexokinase, Hexokinase type I, HK I
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],catalytic activity:ATP + D-hexose = ADP + D-hexose 6-phosphate.,disease:Defects in HK1 are the cause of hexokinase deficiency [MIM:235700]. Hexokinase deficiency is a rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.,domain:The 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.,enzyme regulation:Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.,miscellaneous:In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).,online information:Hexokinase entry,pathway:Carbohydrate metabolism, hexose metabolism.,similarity:Belongs to the hexokinase family.,subcellular location:Its hydrophobic N-terminal sequence may be involved in membrane binding.,subunit:Monomer.,tissue specificity:Isoform 2 is erythrocyte specific, isoform 3 and isoform 4 are testis-specific.,
