PSAT1

PSAT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPSAT1, EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1
External IDsMGI: 2183441 HomoloGene: 6973 GeneCards: PSAT1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q21.2Start78,297,143 bp[1]
End78,330,093 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 19: 15.9 – 15.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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] and phosphoserine aminotransferase deficiency.[7]

Model organisms

Model organisms have been used in the study of PSAT1 function. A conditional knockout mouse line, called Psat1tm1a(KOMP)Wtsi[12][13] 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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty four tests were carried out on mutant mice and two significant abnormalities were observed.[10] 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.[10]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000135069 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024640 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: phosphoserine aminotransferase 1". Retrieved 2011-08-30.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ "Salmonella infection data for Psat1". Wellcome Trust Sanger Institute.
  9. ↑ "Citrobacter infection data for Psat1". Wellcome Trust Sanger Institute.
  10. 1 2 3 4 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.
  11. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ↑ "International Knockout Mouse Consortium".
  13. ↑ "Mouse Genome Informatics".
  14. ↑ 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.
  15. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ↑ 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.
  17. ↑ 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.


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