Hexokinase I

HK1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHK1, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, hexokinase 1, HK, hexokinase, RP79, NEDVIBA
External IDsOMIM: 142600; MGI: 96103; HomoloGene: 100530; GeneCards: HK1; OMA:HK1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

3098

15275

Ensembl

ENSG00000156515

ENSMUSG00000037012

UniProt

P19367

P17710

RefSeq (mRNA)

NM_001146100
NM_010438

RefSeq (protein)

NP_001139572
NP_034568

Location (UCSC)Chr 10: 69.27 – 69.4 MbChr 10: 62.1 – 62.22 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Hexokinase I, also known as hexokinase A and HK1, is an enzyme that in humans is encoded by the HK1 gene on chromosome 10. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), 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]