MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP006521

UniProt Annotations

Entry Information
Gene Nameglycerate kinase
Protein EntryGLCTK_HUMAN
UniProt IDQ8IVS8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=1; Synonyms=Glycerate kinase 1, GLYCTK1; IsoId=Q8IVS8-1; Sequence=Displayed; Name=2; Synonyms=Glycerate kinase 2, GLYCTK2; IsoId=Q8IVS8-2; Sequence=VSP_025360, VSP_025362; Name=3; IsoId=Q8IVS8-3; Sequence=VSP_025358; Name=4; IsoId=Q8IVS8-4; Sequence=VSP_025363, VSP_025365; Name=5; IsoId=Q8IVS8-5; Sequence=VSP_025357, VSP_025364, VSP_025365; Name=6; IsoId=Q8IVS8-6; Sequence=VSP_025356; Name=7; IsoId=Q8IVS8-7; Sequence=VSP_025359, VSP_025361;
Biophysicochemical PropertiesKinetic parameters: KM=0.1 mM for D-glycerate {ECO:0000269|PubMed:20949620};
Catalytic ActivityATP + D-glycerate = ADP + 3-phospho-D- glycerate.
DiseaseD-glyceric aciduria (D-GA) [MIM:220120]: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development. {ECO:0000269|PubMed:20949620}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionQ15645:TRIP13; NbExp=3; IntAct=EBI-748515, EBI-358993;
Sequence CautionSequence=AAH36862.1; Type=Frameshift; Positions=177; Evidence={ECO:0000305};
SimilarityBelongs to the glycerate kinase type-2 family. {ECO:0000305}.
Subcellular LocationIsoform 1: Cytoplasm.
Subcellular LocationIsoform 2: Cytoplasm. Mitochondrion.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:16753811}.
  logo