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MGP005033

UniProt Annotations

Entry Information
Gene Namephosphoserine aminotransferase 1
Protein EntrySERC_HUMAN
UniProt IDQ9Y617
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=Q9Y617-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9Y617-2; Sequence=VSP_000237;
Catalytic Activity4-phosphonooxy-L-threonine + 2-oxoglutarate = (3R)-3-hydroxy-2-oxo-4-phosphonooxybutanoate + L-glutamate.
Catalytic ActivityO-phospho-L-serine + 2-oxoglutarate = 3- phosphonooxypyruvate + L-glutamate.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence={ECO:0000250}; Note=Binds 1 pyridoxal phosphate per subunit. {ECO:0000250};
DiseasePhosphoserine aminotransferase deficiency (PSATD) [MIM:610992]: Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. {ECO:0000269|PubMed:17436247}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. {ECO:0000250}.
PathwayAmino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3.
PathwayCofactor biosynthesis; pyridoxine 5'-phosphate biosynthesis; pyridoxine 5'-phosphate from D-erythrose 4- phosphate: step 3/5.
SimilarityBelongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily. {ECO:0000305}.
SubunitHomodimer. {ECO:0000250}.
Tissue SpecificityExpressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.
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