PSAT1

Last updated
PSAT1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PSAT1 , EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1
External IDs OMIM: 610936; MGI: 2183441; HomoloGene: 6973; GeneCards: PSAT1; OMA:PSAT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

Contents

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]

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:". 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. 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.

Further reading