PSAT1

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.^[5]

PSAT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3E77
Identifiers
Aliases	PSAT1, EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1
External IDs	OMIM: 610936; MGI: 2183441; HomoloGene: 6973; GeneCards: PSAT1; OMA:PSAT1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.2 Start 78,297,125 bp[1] End 78,330,093 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 10.86 cM Start 15,882,042 bp[2] End 15,924,701 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone inferior ganglion of vagus nerve corpus epididymis subthalamic nucleus external globus pallidus superior vestibular nucleus ganglionic eminence Amygdala ventral tegmental area caudate nucleus Top expressed in vestibular sensory epithelium utricle condyle endothelial cell of lymphatic vessel seminal vesicula ventricular zone substantia nigra tail of embryo primitive streak fossa More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity O-phospho-L-serine:2-oxoglutarate aminotransferase activity catalytic activity transaminase activity Cellular component extracellular exosome cytoplasm cytosol Biological process pyridoxine biosynthetic process cellular amino acid biosynthetic process L-serine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29968 107272 Ensembl ENSG00000135069 ENSMUSG00000024640 UniProt Q9Y617 Q99K85 RefSeq (mRNA) NM_058179 NM_021154 NM_001205339 NM_177420 RefSeq (protein) NP_066977 NP_478059 NP_001192268 NP_803155 Location (UCSC) Chr 9: 78.3 – 78.33 Mb Chr 19: 15.88 – 15.92 Mb PubMed search [3] [4]
Wikidata
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The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms.^[5]

Clinical significance

Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome^[6] and phosphoserine aminotransferase deficiency.^[7]

See also

• Phosphoserine transaminase