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PSAT1

From Wikipedia, the free encyclopedia
PSAT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPSAT1, EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1
External IDsOMIM: 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 MbChr 19: 15.88 – 15.92 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

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Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome[6] and phosphoserine aminotransferase deficiency.[7]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135069Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024640Ensembl, 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. ^ a b "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

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  • Overview of all the structural information available in the PDB for UniProt: Q9Y617 (Phosphoserine aminotransferase) at the PDBe-KB.