phosphoserine aminotransferase 1

Summary
Gene Symbol
  • PSAT1
Organism
Homo sapiens (human)
NCBI Gene
29968
PubChem
29968
Alliance of Genome Resources
JoGo
PSAT1
TogoVar
PSAT1
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Aminotransferase
  • Disease variant
  • Phosphoprotein
  • Proteomics identification
  • Pyridoxal phosphate
  • Reference proteome
  • Serine biosynthesis
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y617
  • Phosphohydroxythreonine aminotransferase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050723 PSAT deficiency
DOID:0080075 Neu-Laxova syndrome 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025