PSAT1

Phosphoserine aminotransferase 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3E77​
Identifiers
Symbols	PSAT1 ; EPIP; NLS2; PSA; PSAT; PSATD
External IDs	OMIM: 610936 HomoloGene: 6973 GeneCards: PSAT1 Gene
EC number	2.6.1.52
Gene ontology Molecular function • O-phospho-L-serine:2-oxoglutarate aminotransferase activity Cellular component • cytoplasm • cytosol • extracellular exosome Biological process • L-serine biosynthetic process • pyridoxine biosynthetic process • cellular amino acid biosynthetic process • cellular nitrogen compound metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	29968	107272
Ensembl	ENSG00000135069	ENSMUSG00000024640
UniProt	Q9Y617	Q99K85
RefSeq (mRNA)	NM_021154	NM_001205339
RefSeq (protein)	NP_066977	NP_001192268
Location (UCSC)	Chr 9: 78.3 – 78.33 Mb	Chr 19: 15.9 – 15.95 Mb
PubMed search

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]

Model organisms

Psat1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Eye Histopathology	Normal
Salmonella infection	Normal[4]
Citrobacter infection	Normal[5]
All tests and analysis from[6][7]

Model organisms have been used in the study of PSAT1 function. A conditional knockout mouse line, called Psat1^{tm1a(KOMP)Wtsi[8][9]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[6][13] Twenty four tests were carried out on mutant mice and two significant abnormalities were observed.^[6] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.^[6]

See also

• Phosphoserine transaminase

References

1. "Entrez Gene: phosphoserine aminotransferase 1". Retrieved 2011-08-30.
2. 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. PMID 25152457.
3. 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.
4. "Salmonella infection data for Psat1". Wellcome Trust Sanger Institute.
5. "Citrobacter infection data for Psat1". Wellcome Trust Sanger Institute.
6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
7. Mouse Resources Portal, Wellcome Trust Sanger Institute.
8. "International Knockout Mouse Consortium".
9. "Mouse Genome Informatics".
10. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
11. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
12. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
13. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

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.
• 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.