Biology:PSAT1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[1]
Clinical significance
Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome[2] and phosphoserine aminotransferase deficiency.[3]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: phosphoserine aminotransferase 1". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=29968.
- ↑ "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. doi:10.1016/j.ajhg.2014.07.012. PMID 25152457.
- ↑ "Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway". Am. J. Hum. Genet. 80 (5): 931–7. 2007. doi:10.1086/517888. PMID 17436247.
Further reading
- "Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells.". Mol. Cancer 7: 14. 2008. doi:10.1186/1476-4598-7-14. PMID 18221502.
- "Phosphoserine aminotransferase, the second step-catalyzing enzyme for serine biosynthesis.". IUBMB Life 48 (5): 525–9. 1999. doi:10.1080/713803557. PMID 10637769.
- "Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.". Biochem. J. 373 (Pt 1): 191–200. 2003. doi:10.1042/BJ20030144. PMID 12633500.
- "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. doi:10.1016/j.neures.2010.10.003. PMID 20955740.
- "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. doi:10.1021/bi00387a035. PMID 3651428.
External links
- Overview of all the structural information available in the PDB for UniProt: Q9Y617 (Phosphoserine aminotransferase) at the PDBe-KB.
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