Alternative titles; symbols
HGNC Approved Gene Symbol: HK3
Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,880,869-176,899,346 (from NCBI)
Hexokinases (EC 2.7.1.1) catalyze the first step in glucose metabolism by phosphorylating intracellular glucose. Mammals have 4 different types of hexokinase, HK1 (142600), HK2 (601125), HK3, and HK4 (138079).
Furuta et al. (1996) isolated cDNA clones encoding the HK3 gene from a liver cDNA library. The sequence encodes a predicted 923-amino acid polypeptide with over 50% identity to human HK1 and HK2. There was 84.7% identity between the amino acid sequences of human and rat hexokinase-3. Northern blot analysis showed the presence of hexokinase-3 mRNA in liver and lung.
By fluorescence in situ hybridization, Furuta et al. (1996) localized the HK3 gene to 5q35.2. Colosimo et al. (1996) used both somatic cell hybrid analysis and fluorescence in situ hybridization to map HK3 to 5q35.3.
Harris and Hopkinson (1972) made reference to unpublished data of the M. R. C. Human Biochemical Genetics Unit, Galton Laboratory, indicating polymorphism of leukocyte hexokinase with frequency of heterozygosity of about 5% in Europeans. Povey et al. (1975) studied the genetics.
Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
Colosimo, A., Calabrese, G., Gennarelli, M., Ruzzo, A. M., Sangiuolo, F., Magnani, M., Palka, G., Novelli, G., Dallapiccola, B. Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization. Cytogenet. Cell Genet. 74: 187-188, 1996. [PubMed: 8941369] [Full Text: https://doi.org/10.1159/000134409]
Furuta, H., Nishi, S., Le Beau, M. M., Fernald, A. A., Yano, H., Bell, G. I. Sequence of human hexokinase III cDNA and assignment of the human hexokinase III gene (HK3) to chromosome band 5q35.2 by fluorescence in situ hybridization. Genomics 36: 206-209, 1996. [PubMed: 8812439] [Full Text: https://doi.org/10.1006/geno.1996.0448]
Harris, H., Hopkinson, D. A. Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphism. Ann. Hum. Genet. 36: 9-20, 1972. [PubMed: 4656772] [Full Text: https://doi.org/10.1111/j.1469-1809.1972.tb00578.x]
Hopkinson, D. A., Edwards, Y. H., Harris, H. The distribution of subunit numbers and subunit sizes of enzymes: a study of the products of 100 gene loci. Ann. Hum. Genet. 39: 383-411, 1976. [PubMed: 782337] [Full Text: https://doi.org/10.1111/j.1469-1809.1976.tb00144.x]
Povey, S., Corney, G., Harris, H. Genetically determined polymorphism in a form of hexokinase, HK III, found in human leukocytes. Ann. Hum. Genet. 38: 407-415, 1975. [PubMed: 1190733] [Full Text: https://doi.org/10.1111/j.1469-1809.1975.tb00630.x]
Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.