title: Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation.
abstract: Guanylate kinase (GK) catalyses the conversion of GMP to GTP as part of the cGMP cycle. In mammalian phototransduction, this cycle is essential for the regeneration of cGMP following its hydrolysis by phosphodiesterase. Mutations in different parts of this signalling cascade lead to retinal degeneration in humans. Protein studies have localized a locus for GK to a region of human chromosome 1 that also contains an autosomal recessive form of retinitis pigmentosa (RP12) and Usher's type 11a (USH2A). We report the sequence of this human GK (GUK1) and a further refinement of its localization to 1q32-41, placing it in the same interval as USH2A.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthamology, University College London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Fitzgibbon
authors.forename: N
authors.initials: N
authors.lastname: Katsanis
authors.forename: D
authors.initials: D
authors.lastname: Wells
authors.forename: J
authors.initials: J
authors.lastname: Delhanty
authors.forename: W
authors.initials: W
authors.lastname: Vallins
authors.forename: D M
authors.initials: DM
authors.lastname: Hunt
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003001:Cloning, Molecular; D015870:Gene Expression; D051528:Guanylate Kinases; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D009703:Nucleoside-Phosphate Kinase / Q000737:chemistry* / Q000235:genetics*; D016415:Sequence Alignment; D017421:Sequence Analysis
chemical_list: D009703:Nucleoside-Phosphate Kinase; D051528:Guanylate Kinases