PSAT1 explained

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.^[1]

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.^[2]

Clinical significance

Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome^[3] and phosphoserine aminotransferase deficiency.^[4]

See also

• Phosphoserine transaminase

Further reading

• Vié N, Copois V, Bascoul-Mollevi C, Denis V, Bec N, Robert B, Fraslon C, Conseiller E, Molina F, Larroque C, Martineau P, Del Rio M, Gongora C . Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells. . Mol. Cancer . 7 . 14 . 2008 . 18221502 . 2245978 . 10.1186/1476-4598-7-14 . free .
• Basurko MJ, Marche M, Darriet M, Cassaigne A . Phosphoserine aminotransferase, the second step-catalyzing enzyme for serine biosynthesis. . IUBMB Life . 48 . 5 . 525–9 . 1999 . 10637769 . 10.1080/713803557 . 22449373 . free .
• Baek JY, Jun DY, Taub D, Kim YH . Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis. . Biochem. J. . 373 . Pt 1 . 191–200 . 2003 . 12633500 . 1223456 . 10.1042/BJ20030144 .
• Ozeki Y, Pickard BS, Kano S, Malloy MP, Zeledon M, Sun DQ, Fujii K, Wakui K, Shirayama Y, Fukushima Y, Kunugi H, Hashimoto K, Muir WJ, Blackwood DH, Sawa A . A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expression. . Neurosci. Res. . 69 . 2 . 154–60 . 2011 . 20955740 . 3049551 . 10.1016/j.neures.2010.10.003 .
• Misrahi M, Atger M, Milgrom E . A novel progesterone-induced messenger RNA in rabbit and human endometria. Cloning and sequence analysis of the complementary DNA. . Biochemistry . 26 . 13 . 3975–82 . 1987 . 3651428 . 10.1021/bi00387a035 .

Notes and References

1. Web site: Entrez Gene: phosphoserine aminotransferase 1. 2011-08-30 .
2. Web site: Entrez Gene: phosphoserine aminotransferase 1. 2011-08-30 .
3. Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M . Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway . Am. J. Hum. Genet. . 95 . 3 . 285–93 . 2014 . 25152457 . 10.1016/j.ajhg.2014.07.012 . 4157144.
4. Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E . Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway . Am. J. Hum. Genet. . 80 . 5 . 931–7 . 2007 . 17436247 . 1852735 . 10.1086/517888 .