Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation
- 6 May 1996
- journal article
- Published by Wiley in FEBS Letters
- Vol. 385 (3) , 185-188
- https://doi.org/10.1016/0014-5793(96)00365-1
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.Keywords
This publication has 21 references indexed in Scilit:
- A Gene (DLG2) Located at 17q12-q21 Encodes a New Homologue of the Drosophila Tumor Suppressor dlg-AGenomics, 1995
- Missense rhodopsin mutation in a family with recessive RPNature Genetics, 1994
- Assignment of a Gene for Autosomal Recessive Retinitis Pigmentosa (RP12) to Chromosome 1q31-q32.1 in an Inbred and Genetically Heterogeneous Disease PopulationGenomics, 1994
- Mapping GRB2, a Signal Transduction Gene in the Human and the MouseGenomics, 1994
- Enzymes of the cyclic GMP metabolism in bovine retinaFEBS Letters, 1993
- Three-dimensional structure of the complex of guanylate kinase from yeast with its substrate GMPJournal of Molecular Biology, 1990
- Regional assignment of seven genes on chromosome 1 of man by use of man-Chinese hamster somatic cell hybridsCytogenetic and Genome Research, 1977
- Regional assignment of seven genes on chromosome 1 of man by use of man-Chinese hamster somatic cell hybridsCytogenetic and Genome Research, 1977
- Studies on the Properties and Tissue Distribution of the Isozymes of Guanylate Kinase in ManHuman Heredity, 1975
- The Human Loci for Phosphopyruvate Hydratase and Guanylate Kinase are Syntenic with the PGD-PGM1 Linkage Group in Man-Chinese Hamster Somatic Cell HybridsCytogenetic and Genome Research, 1974