PSAT1

PSAT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3E77
Identifiers
Aliases	PSAT1 , EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1
External IDs	OMIM: 610936 MGI: 2183441 HomoloGene: 6973 GeneCards: PSAT1
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q21.2 Start 78,297,125 bp [1] End 78,330,093 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 A|19 10.86 cM Start 15,882,042 bp [2] End 15,924,701 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve corpus epididymis subthalamic nucleus external globus pallidus superior vestibular nucleus ganglionic eminence amygdala ventral tegmental area caudate nucleus nucleus accumbens Top expressed in utricle condyle seminal vesicula substantia nigra primitive streak fossa morula Paneth cell medial ganglionic eminence ureter More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity O-phospho-L-serine:2-oxoglutarate aminotransferase activity catalytic activity transaminase activity Cellular component extracellular exosome cytoplasm cytosol Biological process pyridoxine biosynthetic process cellular amino acid biosynthetic process L-serine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 19: 15.88 – 15.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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 [8]
Citrobacter infection	Normal [9]
All tests and analysis from [10] [11]

Model organisms have been used in the study of PSAT1 function. A conditional knockout mouse line, called Psat1^{tm1a(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

• Phosphoserine transaminase

References

1. GRCh38: Ensembl release 89: ENSG00000135069 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024640 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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. 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. S2CID   85911512.
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. S2CID   18872015.
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. 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 (Phosphoserine aminotransferase) at the PDBe-KB .