From Wikipedia, the free encyclopedia
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
Protein-coding gene in the species Homo sapiens
Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene .[ 5]
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] [ 7]
See also
References
^ a b c GRCh38: Ensembl release 89: ENSG00000135069 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024640 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: phosphoserine aminotransferase 1" . Retrieved 2011-08-30 .^ 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 (2014). "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. doi :10.1016/j.ajhg.2014.07.012 . PMC 4157144 PMID 25152457 . ^ Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E (2007). "Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway" . Am. J. Hum. Genet . 80 (5): 931–7. doi :10.1086/517888 . PMC 1852735 PMID 17436247 .
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 (2008). "Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells" . Mol. Cancer . 7 : 14. doi :10.1186/1476-4598-7-14 PMC 2245978 PMID 18221502 . Basurko MJ, Marche M, Darriet M, Cassaigne A (1999). "Phosphoserine aminotransferase, the second step-catalyzing enzyme for serine biosynthesis" . IUBMB Life . 48 (5): 525–9. doi :10.1080/713803557 PMID 10637769 . S2CID 22449373 . Baek JY, Jun DY, Taub D, Kim YH (2003). "Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis" . Biochem. J . 373 (Pt 1): 191–200. doi :10.1042/BJ20030144 . PMC 1223456 PMID 12633500 . 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 (2011). "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. doi :10.1016/j.neures.2010.10.003 . PMC 3049551 PMID 20955740 . Misrahi M, Atger M, Milgrom E (1987). "A novel progesterone-induced messenger RNA in rabbit and human endometria. Cloning and sequence analysis of the complementary DNA". Biochemistry . 26 (13): 3975–82. doi :10.1021/bi00387a035 . PMID 3651428 .
External links
Overview of all the structural information available in the PDB for UniProt : Q9Y617 PDBe-KB .
Activity Regulation Classification Kinetics Types
