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Aliases for PSAT1 Gene

Aliases for PSAT1 Gene

  • Phosphoserine Aminotransferase 1 2 3 5
  • Phosphohydroxythreonine Aminotransferase 3 4
  • EC 4 61
  • PSAT 3 4
  • PSA 3 4
  • Endometrial Progesterone-Induced Protein 3
  • Phosphoserine Aminotransferase 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 Glycine, serine and threonine metabolism and 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

Enhancers for PSAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F078294 1.4 FANTOM5 ENCODE 8.8 -0.3 -297 4.0 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 ZNF121 GLIS2 CEP78 PSAT1
GH09F078210 1 Ensembl ENCODE 6.2 -85.7 -85723 1.7 HDGF PKNOX1 TBL1XR1 ZNF140 CBX5 EED ETV6 CREM MTA2 CBFB CEP78 PSAT1 ENSG00000234819 RPL21P84
GH09F078200 0.9 Ensembl ENCODE 6.1 -95.8 -95775 1.4 ZFHX2 ZSCAN16 SP5 FOXA3 IKZF1 GABPB1 PRDM10 EGR2 CEP78 PSAT1 ENSG00000234819 RPL21P84
GH09F078187 0.8 FANTOM5 Ensembl ENCODE 6.4 -109.0 -109041 0.9 CEP78 PSAT1 RPL21P84 ENSG00000234819
GH09F078293 0.6 Ensembl 8 -3.9 -3875 0.4 GATAD2A CEBPA CEBPB CEBPG BCL6 ZNF7 CEP78 PSAT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSAT1 on UCSC Golden Path with GeneCards custom track

Promoters for PSAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001306399 625 3000 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 ZNF121 GLIS2

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

Genes around PSAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PSAT1 Gene

    Alternative splice isoforms for PSAT1 Gene


neXtProt entry for PSAT1 Gene

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:

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 --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PSAT1: view
genes like me logo Genes that share phenotypes with PSAT1: view

Human Phenotype Ontology for PSAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSAT1 Gene

MGI Knock Outs for PSAT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PSAT1

miRNA for PSAT1 Gene

miRTarBase miRNAs that target PSAT1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSAT1

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PSAT1 Gene

Localization for PSAT1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSAT1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
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

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:0008615 pyridoxine biosynthetic process NAS 10637769
GO:0008652 cellular amino acid biosynthetic process IEA --
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
Zolpidem Approved Pharma Full agonist, Allosteric regulator 100
Pyridoxine Approved, Vet_approved Nutra 186,186
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0
Pyridoxal Phosphate Nutra Target, cofactor 14

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

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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 from GTEx, Illumina, BioGPS, and SAGE 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

Protein tissue co-expression partners for PSAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PSAT1 Gene:


SOURCE GeneReport for Unigene cluster for PSAT1 Gene:


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

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
(Pan troglodytes)
Mammalia PSAT1 34 35
  • 97.93 (n)
(Canis familiaris)
Mammalia PSAT1 34 35
  • 90.99 (n)
(Bos Taurus)
Mammalia PSAT1 34 35
  • 90 (n)
(Monodelphis domestica)
Mammalia PSAT1 35
  • 88 (a)
(Rattus norvegicus)
Mammalia Psat1 34
  • 86.4 (n)
(Mus musculus)
Mammalia Psat1 34 16 35
  • 86.31 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
-- 35
  • 67 (a)
(Gallus gallus)
Aves PSAT1 34 35
  • 76.51 (n)
(Anolis carolinensis)
Reptilia PSAT1 35
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia psat1 34
  • 74.25 (n)
Str.12078 34
(Danio rerio)
Actinopterygii psat1 34 35
  • 68.13 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG11899 34 35
  • 60.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004598 34
  • 58.36 (n)
(Caenorhabditis elegans)
Secernentea F26H9.5 34 35
  • 56.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04818g 34
  • 53.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER1 34 35 37
  • 50.66 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR288W 34
  • 50.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PSAT 34
  • 56.89 (n)
(Oryza sativa)
Liliopsida Os.4891 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8876 35
  • 54 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F12.07 34
  • 51.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01429 34
  • 50.09 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4094 34
Species where no ortholog for PSAT1 was found in the sources mined by GeneCards:
  • 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
rs118203967 Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992], Pathogenic 78,304,842(+) TGCTG(A/C)CTATG reference, missense
rs587777777 Neu-Laxova syndrome 2 (NLS2) [MIM:616038], Pathogenic 78,306,452(+) GTCCT(C/T)AAACT reference, missense
rs587777778 Neu-Laxova syndrome 2 (NLS2) [MIM:616038], Pathogenic 78,304,839(+) GTGTG(C/T)TGACT reference, missense
rs587777747 Pathogenic 78,300,648(+) AGTTG(-/G)CATTA reference, frameshift-variant
rs587777776 Pathogenic 78,328,996(+) GGCAT(AGACCT/CCGGG)CCTCT reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv968710 CNV duplication 23825009
nsv831632 CNV gain 17160897
nsv821540 CNV duplication 20802225
nsv6575 CNV insertion 18451855
nsv521626 CNV loss 19592680
nsv472643 CNV novel sequence insertion 20440878
esv3620795 CNV gain 21293372
esv3620794 CNV gain 21293372
dgv1223n67 CNV loss 20364138

Variation tolerance for PSAT1 Gene

Residual Variation Intolerance Score: 40.4% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PSAT1 Gene

MalaCards: The human disease database

(11) 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
  • neu-laxova syndrome 1
schizotypal personality disorder
  • schizotypal personality
serine deficiency
- elite association - COSMIC cancer census association via MalaCards
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. 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 3 4 22 64
  2. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. (PMID: 17436247) Hart C.E. … Van Schaftingen E. (Am. J. Hum. Genet. 2007) 3 4 22 64
  3. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. (PMID: 25152457) Acuna-Hidalgo R. … Zenker M. (Am. J. Hum. Genet. 2014) 3 4 64
  4. Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells. (PMID: 18221502) ViAc N. … Gongora C. (Mol. Cancer 2008) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PSAT1 Gene

  • Addgene plasmids for PSAT1

Sources for PSAT1 Gene

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