title: Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.
abstract: Deficiency of human glycerate kinase leads to D-glycerate acidemia/D-glyceric aciduria. Through PCR cloning assisted by in silico approach, we isolated the human glycerate kinase genes--Glycerate Kinase 1 (GLYCTK1) and its alternatively splicing variant--Glycerate Kinase 2 (GLYCTK2), which might be associated with D-glycerate acidemia/D-glyceric aciduria. The locus of GLYCTK gene is mapped to 3p21. PCR amplification in seventeen human tissue cDNAs revealed that both GLYCTK1 and GLYCTK2 are expressed widely almost in all these tissues. The expression of mouse Glyctk in various tissues was demonstrated by in situ hybridization. Both GLYCTK1 and GLYCTK2 proteins are localized in cytosol, and GLYCTK2 proteins are specifically localized in mitochondria. Present results revealed the characteristic expression pattern of murine Glyctk in neural system, skeleton muscle, supporting that glycerate kinase is implicated in D-glycerate acidemia/D-glyceric aciduria.
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Handan Road 220, Shanghai, 200433, P.R. China.
authors.forename: Jin-Hu
authors.initials: JH
authors.lastname: Guo
authors.forename: Saiyin
authors.initials: S
authors.lastname: Hexige
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: Guang-Jin
authors.initials: GJ
authors.lastname: Zhou
authors.forename: Xiang
authors.initials: X
authors.lastname: Wang
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Jiang
authors.forename: Ya-Hui
authors.initials: YH
authors.lastname: Kong
authors.forename: Guo-Qing
authors.initials: GQ
authors.lastname: Ji
authors.forename: Chao-Qun
authors.initials: CQ
authors.lastname: Wu
authors.forename: Shou-Yuan
authors.initials: SY
authors.lastname: Zhao
authors.forename: Long
authors.initials: L
authors.lastname: Yu
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002522:Chlorocebus aethiops; D018076:DNA, Complementary / Q000302:isolation & purification; D014644:Genetic Variation; D005988:Glyceric Acids / Q000097:blood*; D006801:Humans; D017403:In Situ Hybridization; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008969:Molecular Sequence Data; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D005988:Glyceric Acids; D020033:Protein Isoforms; D011993:Recombinant Fusion Proteins; C042971:glyceric acid; D017853:Phosphotransferases (Alcohol Group Acceptor); C020670:glycerate kinase