PSAT1

Protein identityUniProt · HPA

UniProt accession

Q9Y617

Gene

PSAT1

Ensembl

ENSG00000135069

Chromosome

9

Canonical length

370 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

370 residues, UniProt reviewed canonical sequence.

>Q9Y617|PSAT1
     1  MDAPRQVVNF GPGPAKLPHS VLLEIQKELL DYKGVGISVL EMSHRSSDFA KIINNTENLV
    61  RELLAVPDNY KVIFLQGGGC GQFSAVPLNL IGLKAGRCAD YVVTGAWSAK AAEEAKKFGT
   121  INIVHPKLGS YTKIPDPSTW NLNPDASYVY YCANETVHGV EFDFIPDVKG AVLVCDMSSN
   181  FLSKPVDVSK FGVIFAGAQK NVGSAGVTVV IVRDDLLGFA LRECPSVLEY KVQAGNSSLY
   241  NTPPCFSIYV MGLVLEWIKN NGGAAAMEKL SSIKSQTIYE IIDNSQGFYV CPVEPQNRSK
   301  MNIPFRIGNA KGDDALEKRF LDKALELNML SLKGHRSVGG IRASLYNAVT IEDVQKLAAF
   361  MKKFLEMHQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSAT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

251 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PSAT1.

Disease | AllUniProt

Conditions PSAT1 is implicated in, by any mechanism.

• Phosphoserine aminotransferase deficiency (PSATD) MIM:610992
• Neu-Laxova syndrome 2 (NLS2) MIM:616038

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 526 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neu-Laxova syndrome 2
• PSAT deficiency
• PSAT1-related disorder
• Neurometabolic disorder due to serine deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.27

gnomAD pLI

0

gnomAD missense Z

0.41

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-serine biosynthetic process
• negative regulation of ferroptosis
• pyridoxine biosynthetic process

Molecular functions

• identical protein binding
• pyridoxal phosphate binding
• O-phospho-L-serine:2-oxoglutarate aminotransferase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Aminotransferase class V domain
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferase class-V, pyridoxal-phosphate binding site
• Aminotransferase class-V
• Phosphoserine aminotransferase

KeywordsUniProt

• Acetylation
• Amino-acid biosynthesis
• Aminotransferase
• Phosphoprotein
• Pyridoxal phosphate
• Serine biosynthesis
• Transferase

InteractionsUniProt · HPA

Protein binding partners of PSAT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COPE