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Aliases for PSAT1 Gene

Aliases for PSAT1 Gene

  • Phosphoserine Aminotransferase 1 2 3
  • Phosphohydroxythreonine Aminotransferase 3 4
  • EC 4 63
  • PSAT 3 4
  • PSA 3 4
  • Endometrial Progesterone-Induced Protein 3
  • PSATD 3
  • EPIP 3
  • NLS2 3

External Ids for PSAT1 Gene

Previous GeneCards Identifiers for PSAT1 Gene

  • GC09P074482
  • GC09P076369
  • GC09P078141
  • GC09P080101
  • GC09P080911
  • GC09P050743

Summaries for PSAT1 Gene

Entrez Gene Summary for PSAT1 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]

GeneCards Summary for PSAT1 Gene

PSAT1 (Phosphoserine Aminotransferase 1) is a Protein Coding gene. Diseases associated with PSAT1 include phosphoserine aminotransferase deficiency and neu-laxova syndrome 2. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include pyridoxal phosphate binding and O-phospho-L-serine:2-oxoglutarate aminotransferase activity.

UniProtKB/Swiss-Prot for PSAT1 Gene

  • Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.

Gene Wiki entry for PSAT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSAT1 Gene

Genomics for PSAT1 Gene

Regulatory Elements for PSAT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PSAT1 Gene

78,297,075 bp from pter
78,330,093 bp from pter
33,019 bases
Plus strand

Genomic View for PSAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSAT1 Gene

Proteins for PSAT1 Gene

  • Protein details for PSAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoserine aminotransferase
    Protein Accession:
    Secondary Accessions:
    • Q5T7G5
    • Q5T7G6
    • Q96AW2
    • Q9BQ12

    Protein attributes for PSAT1 Gene

    370 amino acids
    Molecular mass:
    40423 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326; Note=Binds 1 pyridoxal phosphate per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PSAT1 Gene

    Alternative splice isoforms for PSAT1 Gene


neXtProt entry for PSAT1 Gene

Proteomics data for PSAT1 Gene at MOPED

Selected DME Specific Peptides for PSAT1 Gene

Post-translational modifications for PSAT1 Gene

  • Ubiquitination at Lys 16, Lys 27, Lys 33, Lys 51, Lys 71, Lys 94, Lys 117, Lys 184, Lys 190, Lys 300, Lys 311, Lys 323, Lys 356, and Lys 363
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PSAT1 Gene

Suggested Antigen Peptide Sequences for PSAT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily.
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily.
genes like me logo Genes that share domains with PSAT1: view

No data available for Gene Families for PSAT1 Gene

Function for PSAT1 Gene

Molecular function for PSAT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5 uM for phosphoserine {ECO:0000269 PubMed:17436247}; Vmax=1.35 umol/min/mg enzyme {ECO:0000269 PubMed:17436247};
UniProtKB/Swiss-Prot CatalyticActivity:
O-phospho-L-serine + 2-oxoglutarate = 3-phosphonooxypyruvate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity:
4-phosphonooxy-L-threonine + 2-oxoglutarate = (3R)-3-hydroxy-2-oxo-4-phosphonooxybutanoate + L-glutamate
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.

Enzyme Numbers (IUBMB) for PSAT1 Gene

Gene Ontology (GO) - Molecular Function for PSAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004648 O-phospho-L-serine:2-oxoglutarate aminotransferase activity TAS --
genes like me logo Genes that share ontologies with PSAT1: view
genes like me logo Genes that share phenotypes with PSAT1: view

Animal Model Products

miRNA for PSAT1 Gene

miRTarBase miRNAs that target PSAT1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PSAT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PSAT1 Gene

Localization for PSAT1 Gene

Subcellular locations from

Jensen Localization Image for PSAT1 Gene COMPARTMENTS Subcellular localization image for PSAT1 gene
Compartment Confidence
extracellular 5
cytosol 4
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PSAT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSAT1 Gene

Pathways & Interactions for PSAT1 Gene

genes like me logo Genes that share pathways with PSAT1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9Y617-SERC_HUMAN

  • Pathway: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3
  • Pathway: Cofactor biosynthesis; pyridoxine 5-phosphate biosynthesis; pyridoxine 5-phosphate from D-erythrose 4-phosphate: step 3/5

Gene Ontology (GO) - Biological Process for PSAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006564 L-serine biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008615 pyridoxine biosynthetic process NAS 10637769
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with PSAT1: view

No data available for SIGNOR curated interactions for PSAT1 Gene

Drugs & Compounds for PSAT1 Gene

(10) Drugs for PSAT1 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 51
Zolpidem Approved Pharma Full agonist, Allosteric regulator 91
Pyridoxine Approved Nutra 152,152
Finasteride Approved Pharma Inhibitor of Type II 5α-reductase, Type II 5alpha-reductase inhibitor 62
Flutamide Approved Pharma Non-steroidal androgen receptor antagonist 58

(9) Additional Compounds for PSAT1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3-O-Phosphoserine
  • Dexfosfoserine
  • Fosforina
  • L-3-Phosphoserine
  • L-O-Phosphoserine
2-Oxo-3-hydroxy-4-phosphobutanoic acid
  • (3R)-3-Hydroxy-2-oxo-4-phosphonooxybutanoate
  • (3R)-3-Hydroxy-2-oxo-4-phosphonooxybutanoic acid
  • 2-Oxo-3-hydroxy-4-phosphobutanoate
  • 2-Oxo-3-hydroxy-4-phosphobutanoic acid
  • alpha-Keto-3-hydroxy-4-phosphobutyrate
  • 3-Phospho-1-serine
  • 3-Phospho-serine
  • 3-Phosphoserine
  • DL-O-Phosphorylserine
  • DL-O-Phosphoserine
  • 4-(Phosphonooxy)-L-threonine
  • 4-(Phosphonooxy)-threonine
  • 4-Phosphonooxy-L-threonine
  • O-Phospho-4-hydroxy-L-threonine
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with PSAT1: view

Transcripts for PSAT1 Gene

mRNA/cDNA for PSAT1 Gene

Unigene Clusters for PSAT1 Gene

Phosphoserine aminotransferase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PSAT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP2: - - - -
SP3: -

Relevant External Links for PSAT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PSAT1 Gene

mRNA expression in normal human tissues for PSAT1 Gene

Protein differential expression in normal tissues from HIPED for PSAT1 Gene

This gene is overexpressed in Liver, secretome (13.7), Spinal cord (11.6), and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PSAT1 Gene

SOURCE GeneReport for Unigene cluster for PSAT1 Gene Hs.494261

mRNA Expression by UniProt/SwissProt for PSAT1 Gene

Tissue specificity: Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon
genes like me logo Genes that share expression patterns with PSAT1: view

Protein tissue co-expression partners for PSAT1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PSAT1 Gene

Orthologs for PSAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSAT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PSAT1 35
  • 90 (n)
  • 92.7 (a)
PSAT1 36
  • 93 (a)
(Canis familiaris)
Mammalia PSAT1 35
  • 90.99 (n)
  • 94.59 (a)
PSAT1 36
  • 85 (a)
(Mus musculus)
Mammalia Psat1 35
  • 86.31 (n)
  • 92.43 (a)
Psat1 16
Psat1 36
  • 92 (a)
(Pan troglodytes)
Mammalia PSAT1 35
  • 97.93 (n)
  • 97.34 (a)
PSAT1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Psat1 35
  • 86.4 (n)
  • 91.89 (a)
(Monodelphis domestica)
Mammalia PSAT1 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
-- 36
  • 67 (a)
(Gallus gallus)
Aves PSAT1 35
  • 76.51 (n)
  • 81.3 (a)
PSAT1 36
  • 81 (a)
(Anolis carolinensis)
Reptilia PSAT1 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia psat1 35
  • 74.25 (n)
  • 80.22 (a)
Str.12078 35
(Danio rerio)
Actinopterygii -- 35
psat1 35
  • 68.13 (n)
  • 75.34 (a)
psat1 36
  • 75 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004598 35
  • 58.36 (n)
  • 56.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11899 35
  • 60.39 (n)
  • 63.76 (a)
CG11899 36
  • 62 (a)
(Caenorhabditis elegans)
Secernentea F26H9.5 35
  • 56.28 (n)
  • 53.28 (a)
F26H9.5 36
  • 53 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR288W 35
  • 50.47 (n)
  • 45.22 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04818g 35
  • 53.17 (n)
  • 44.35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER1 35
  • 50.66 (n)
  • 43.79 (a)
SER1 36
  • 39 (a)
SER1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PSAT 35
  • 56.89 (n)
  • 51.96 (a)
(Oryza sativa)
Liliopsida Os.4891 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4094 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01429 35
  • 50.09 (n)
  • 44.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F12.07 35
  • 51.24 (n)
  • 44.63 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8876 36
  • 54 (a)
Species with no ortholog for PSAT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSAT1 Gene

Gene Tree for PSAT1 (if available)
Gene Tree for PSAT1 (if available)

Paralogs for PSAT1 Gene Pseudogenes for PSAT1 Gene

genes like me logo Genes that share paralogs with PSAT1: view

No data available for Paralogs for PSAT1 Gene

Variants for PSAT1 Gene

Sequence variations from dbSNP and Humsavar for PSAT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs867376 -- 78,324,257(-) GGCAG(A/G)CCTCC intron-variant
rs867377 -- 78,324,215(-) CTCAC(C/T)GACCA intron-variant
rs867378 -- 78,324,101(-) AGACA(C/T)GCTGC intron-variant
rs883815 -- 78,323,494(+) AGGAT(C/T)GCTTG intron-variant
rs944513 -- 78,306,530(-) GCAGA(A/C)ACCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSAT1 Gene

Variant ID Type Subtype PubMed ID
nsv831632 CNV Gain 17160897
nsv6575 CNV Insertion 18451855
dgv1223n67 CNV Loss 20364138
nsv821540 CNV Duplication 20802225
nsv521626 CNV Loss 19592680

Variation tolerance for PSAT1 Gene

Residual Variation Intolerance Score: 40.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSAT1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSAT1 Gene

Disorders for PSAT1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PSAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
phosphoserine aminotransferase deficiency
  • psat deficiency
neu-laxova syndrome 2
  • nls2
neu-laxova syndrome1
  • phgdh deficiency
schizotypal personality disorder
  • schizotypal personality
- elite association
Search PSAT1 in MalaCards View complete list of genes associated with diseases


  • Neu-Laxova syndrome 2 (NLS2) [MIM:616038]: A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. {ECO:0000269 PubMed:25152457}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]: Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. {ECO:0000269 PubMed:17436247}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PSAT1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PSAT1: view

No data available for Genatlas for PSAT1 Gene

Publications for PSAT1 Gene

  1. Effect of pH on the structure and stability of Bacillus circulans ssp. alkalophilus phosphoserine aminotransferase: thermodynamic and crystallographic studies. (PMID: 16532449) Kapetaniou E.G. … Papageorgiou A.C. (Proteins 2006) 23 25 67
  2. Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis. (PMID: 12633500) Baek J.Y. … Kim Y.H. (Biochem. J. 2003) 2 23 67
  3. Phosphoserine aminotransferase from Bacillus circulans subsp. alkalophilus: purification, gene cloning and sequencing. (PMID: 8695645) Battchikova N. … Korpela T. (Biochim. Biophys. Acta 1996) 23 25 67
  4. Differential expression proteomics of human colorectal cancer based on a syngeneic cellular model for the progression of adenoma to carcinoma. (PMID: 19899082) Roth U. … Hanisch F.G. (Proteomics 2010) 23 67
  5. Removal of polysialic acid triggers dispersion of subventricularly derived neuroblasts into surrounding CNS tissues. (PMID: 20237270) Battista D. … Rutishauser U. (J. Neurosci. 2010) 23 67

Products for PSAT1 Gene

Sources for PSAT1 Gene

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