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MGP004825

UniProt Annotations

Entry Information
Gene Namephosphoglycerate dehydrogenase
Protein EntrySERA_HUMAN
UniProt IDO43175
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=21.6 uM for 3-phosphohydroxypyruvate {ECO:0000269|PubMed:19235232}; Vmax=35 nmol/min/mg enzyme with 3-phosphohydroxypyruvate as substrate (in patient-derived fibroblasts) {ECO:0000269|PubMed:19235232}; Vmax=168 nmol/min/mg enzyme with 3-phosphohydroxypyruvate as substrate (in 3-PGDH overexpressed cells) {ECO:0000269|PubMed:19235232};
Catalytic Activity2-hydroxyglutarate + NAD(+) = 2-oxoglutarate + NADH. {ECO:0000269|PubMed:11751922}.
Catalytic Activity3-phospho-D-glycerate + NAD(+) = 3- phosphonooxypyruvate + NADH. {ECO:0000269|PubMed:11751922}.
DiseaseNeu-Laxova syndrome 1 (NLS1) [MIM:256520]: A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. {ECO:0000269|PubMed:24836451}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePhosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]: Characterized by congenital microcephaly, psychomotor retardation, and seizures. {ECO:0000269|PubMed:11055895, ECO:0000269|PubMed:19235232}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InductionInduced by 17-beta-estradiol (estrogenic ligand) and 4- hydroxytamoxifen (agonist/antagonist ligand). Positively regulated by the transcription factors SP1 and NF-Y. {ECO:0000269|PubMed:16949628, ECO:0000269|PubMed:18378410}.
PathwayAmino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.
SimilarityBelongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. {ECO:0000305}.
SubunitHomotetramer. {ECO:0000250}.
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