Aliases for HK1 Gene
External Ids for HK1 Gene
Previous GeneCards Identifiers for HK1 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 five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]
GeneCards Summary for HK1 Gene
HK1 (Hexokinase 1) is a Protein Coding gene. Diseases associated with HK1 include neuropathy, hereditary motor and sensory, russe type and hemolytic anemia due to hexokinase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include glucokinase activity and mannokinase activity. An important paralog of this gene is HK2.
Mitochondrial Hexokinases catalyze the first essential step of glucose metabolism, the conversion of glucose into glucose-6-phosphate. This directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation. There are two subtypes of mitochondrial hexokinases, HK1 and HK2, each of which has four isozymes designated hexokinase I, II, III and IV. HK1 and HK2 are both localized to the outer mitochondrial membrane, with HK1 being found in nervous tissue and HK2 in insulin-responsive tissues such as skeletal muscle. Activation of mitochondrial hexokinases is regulated by Akt/PKB-mediated phosphorylation and they are subject to inhibiton by their end product, glucose-6-phosphate. In addition to glucose metabolism, mitochondrial hexokinases have been implicated in antiapoptotic and cell survival signaling.