Alternative titles; symbols
HGNC Approved Gene Symbol: GUK1
Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:228,140,084-228,148,955 (from NCBI)
Guanylate kinase (EC 2.7.4.8) catalyzes the phosphorylation of either GMP to GDP or dGMP to dGDP and is an essential enzyme in nucleotide metabolism pathways (summary by Brady et al., 1996).
Brady et al. (1996) cloned human and mouse cDNAs of GUK1. They reported that the human gene predicts a protein of 197 amino acids with a molecular mass of 21.7 kD. They found that the 1-kb GUK1 transcript was ubiquitously expressed.
Brady et al. (1996) stated that the guanylate kinases are targets for cancer chemotherapy and are inhibited by the antitumor drug 6-thioguanine. They published a computer model of GUK1 tertiary structure designed to be used in the development of chemotherapy drugs.
From cell hybridization studies, Meera Khan et al. (1974) concluded that the GUK1 gene may be on chromosome 1. Meera Khan (1977) stated that the genetic independence of GUK1 and GUK2 (139280) has not been established; it might be a situation like that of fumarate hydratase in which cytosolic and mitochondrial forms are encoded by the same gene.
Dallapiccola et al. (1980) found increased red cell GUK in a patient with a duplication of 1q31-q43.
By fluorescence in situ hybridization, Fitzgibbon et al. (1996) mapped the GUK1 gene to 1q32-q41.
Brady, W. A., Kokoris, M. S., Fitzgibbon, M., Black, M. E. Cloning, characterization, and modeling of mouse and human guanylate kinases. J. Biol. Chem. 271: 16734-16740, 1996. [PubMed: 8663313] [Full Text: https://doi.org/10.1074/jbc.271.28.16734]
Dallapiccola, B., Lungarotti, M. S., Falorni, A., Magnani, M., Dacha, M. Evidence for the assignment of GUK1 gene locus to 1q32-q43 segment from gene dosage effect. Ann. Genet. 23: 83-85, 1980. [PubMed: 6249178]
Fitzgibbon, J., Katsanis, N., Wells, D., Delhanty, J., Vallins, W., Hunt, D. M. Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. FEBS Lett. 385: 185-188, 1996. [PubMed: 8647247] [Full Text: https://doi.org/10.1016/0014-5793(96)00365-1]
Meera Khan, P. Personal Communication. Leiden, The Netherlands 1977.
Meera Khan, P., Doppert, B. A., Hagemeijer, A., Westerveld, A. The human loci for phosphopyruvate hydratase and guanylate kinase are syntenic with the PGD-PGM1 linkage group in man-Chinese hamster somatic cell hybrids. Cytogenet. Cell Genet. 13: 130-131, 1974. [PubMed: 4363865] [Full Text: https://doi.org/10.1159/000130255]