Hexokinase 1 (HK1)

HK1-Ta; HK1-Tb; HK1-Tc; HKI; HXK1; Brain form hexokinase

SPN	W037
HGNC	4922
MGI	96103
PubMed	9665168
RGD	2796
UniProt	P19367
Wiki	HK1

A hexokinase is an enzyme that phosphorylates hexoses (six-carbon sugars), forming hexose phosphate. In most organisms, glucose is the most important substrate of hexokinases, and glucose-6-phosphate the most important product. Hexokinase-1 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.

Reference

"Human hexokinase: sequences of amino- and carboxyl-terminal halves are homologous."
Biochem. Biophys. Res. Commun. 157:937-943(1988) [PubMed] [Europe PMC] [Abstract]

"Structure of the human hexokinase type I gene and nucleotide sequence of the 5' flanking region."
Biochem. J. 331:607-613(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Structure of the 5' region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA."
Biochim. Biophys. Acta 1493:19-26(2000) [PubMed] [Europe PMC] [Abstract]

"The erythrocyte-specific hexokinase isozyme (HKR) and the common hexokinase isozyme (HKI) are produced from a single gene by alternate promoters."
Blood 90:272-272(1998)