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... See more...

Aliases for PSAT1 Gene

Aliases for PSAT1 Gene

  • Phosphoserine Aminotransferase 1 2 3 5
  • PSA 2 3 4
  • Phosphohydroxythreonine Aminotransferase 3 4
  • Phosphoserine Aminotransferase 3 4
  • EC 2.6.1.52 4 51
  • PSAT 3 4
  • Endometrial Progesterone-Induced Protein 3
  • PSATD 3
  • PSAT1 5
  • 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 One carbon pool by folate and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and O-phospho-L-serine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is AGXT.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSAT1 Gene

Genomics for PSAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PSAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J078294 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 608.8 +0.1 53 4.8 SP1 HNRNPL GATAD2A PRDM10 TFE3 NFKBIZ ZNF692 POLR2A RCOR2 FOS PSAT1 CEP78 AB372643-012 RF00017-7646
GH09J078210 Enhancer 0.9 Ensembl ENCODE 6.3 -84.9 -84924 4 SP1 CTCF PRDM10 FOXA1 STAT3 RAD21 IKZF2 TRIM22 YY1 PKNOX1 CEP78 GNAQ PSAT1 LOC107987082 piR-30444-328 RF00017-7646
GH09J078325 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 5.4 +28.4 28376 1.4 IKZF1 FOXA1 TCF12 CBX3 TAF9B ZSCAN29 TRIM24 POLR2A NCOR1 NFIC PSAT1 GNA14 AB372643-012 RF00017-7647 lnc-GNAQ-8 RF00017-7646
GH09J078293 Enhancer 0.6 Ensembl 7.9 -3.7 -3724 1.2 GATAD2A ZNF7 GABPA CEBPA FOXA2 FOXP1 DRAP1 CEBPB BCL6 HNF4A CEP78 PSAT1 piR-57135-117 RF00017-7646
GH09J078200 Enhancer 0.8 Ensembl ENCODE 6.1 -95.6 -95624 2.2 PRDM10 EGR1 FOXA2 ELF1 ZFHX2 IKZF1 GABPB1 ZSCAN16 MNT EGR2 CEP78 PSAT1 piR-30444-328 LOC107987082 GNAQ RF00017-7646
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSAT1

Top Transcription factor binding sites by QIAGEN in the PSAT1 gene promoter:
  • c-Jun
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for PSAT1 Gene

Genomic Locations for PSAT1 Gene
chr9:78,297,125-78,330,093
(GRCh38/hg38)
Size:
32,969 bases
Orientation:
Plus strand
chr9:80,912,059-80,945,009
(GRCh37/hg19)
Size:
32,951 bases
Orientation:
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:
    Q9Y617-SERC_HUMAN
    Recommended name:
    Phosphoserine aminotransferase
    Protein Accession:
    Q9Y617
    Secondary Accessions:
    • Q5T7G5
    • Q5T7G6
    • Q96AW2
    • Q9BQ12

    Protein attributes for PSAT1 Gene

    Size:
    370 amino acids
    Molecular mass:
    40423 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PSAT1 Gene

Selected DME Specific Peptides for PSAT1 Gene

Q9Y617:
  • IVRDDLL
  • FAGAQKN
  • GHRSVGG
  • SLYNTPP
  • RELLAVP
  • RASLYNA

Post-translational modifications for PSAT1 Gene

  • Ubiquitination at Lys16, Lys27, Lys33, Lys51, Lys71, Lys94, Lys117, Lys184, Lys190, Lys300, Lys356, Lys311, Lys363, Lys318, Lys323, and Lys333
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PSAT1 Gene

Gene Families for PSAT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PSAT1 Gene

InterPro:
Blocks:
  • Aminotransferase, class V
  • Phosphoserine aminotransferase
ProtoNet:

Suggested Antigen Peptide Sequences for PSAT1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoserine aminotransferase (A9LS35_HUMAN)
  • Phosphohydroxythreonine aminotransferase (SERC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y617

UniProtKB/Swiss-Prot:

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

Function for PSAT1 Gene

Molecular function for PSAT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + O-phospho-L-serine = 3-phosphooxypyruvate + L-glutamate; Xref=Rhea:RHEA:14329, ChEBI:CHEBI:16810, ChEBI:CHEBI:18110, ChEBI:CHEBI:29985, ChEBI:CHEBI:57524; EC=2.6.1.52;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + 4-(phosphooxy)-L-threonine = (R)-3-hydroxy-2-oxo-4-phosphooxybutanoate + L-glutamate; Xref=Rhea:RHEA:16573, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:58452, ChEBI:CHEBI:58538; EC=2.6.1.52;.
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};

Enzyme Numbers (IUBMB) for PSAT1 Gene

Phenotypes From GWAS Catalog for PSAT1 Gene

Gene Ontology (GO) - Molecular Function for PSAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004648 O-phospho-L-serine:2-oxoglutarate aminotransferase activity IBA,NAS 10637769
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IBA 21873635
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:
  • Psat1 Psat1<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PSAT1

CRISPR Products

miRNA for PSAT1 Gene

miRTarBase miRNAs that target PSAT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSAT1

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

Localization for PSAT1 Gene

Subcellular locations from

COMPARTMENTS
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
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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 IBA,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

(12) Drugs for PSAT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Famotidine Approved Pharma Histamine H2-receptor antagonist 82
Zolpidem Approved Pharma Allosteric regulator, Full agonist 125
Pyridoxine Approved, Investigational, Vet_approved Nutra 229,229

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Oxo-3-hydroxy-4-phosphobutanoic acid
  • (3R)-3-Hydroxy-2-oxo-4-phosphonooxybutanoate
  • 2-oxo-3-Hydroxy-4-phosphobutanoate
  • alpha-keto-3-Hydroxy-4-phosphobutyrate
  • (3R)-3-Hydroxy-2-oxo-4-phosphonooxybutanoic acid
  • a-keto-3-Hydroxy-4-phosphobutyrate
DL-O-Phosphoserine
  • 2-amino-3-(Phosphonooxy)propanoic acid
  • DL-Serine dihydrogen phosphate
  • DL-Serine, dihydrogen phosphate (ester)
  • Phosphoserine
  • 2-amino-3-(Phosphonooxy)propanoate
17885-08-4
O-Phospho-4-hydroxy-L-threonine
  • 4-(Phosphonooxy)-threonine
  • 4-(Phosphonooxy)-L-threonine
  • 4-Phosphonooxy-L-threonine
Phosphohydroxypyruvic acid
  • 3-Phosphohydroxypyruvic acid
  • Hydroxypyruvic acid phosphate
  • 3-Phosphohydroxypyruvate
  • Phosphohydroxypyruvate
  • Hydroxypyruvate phosphate
3913-50-6
genes like me logo Genes that share compounds with PSAT1: view

Transcripts for PSAT1 Gene

mRNA/cDNA for PSAT1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSAT1

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1:
SP2: - - - -
SP3: -

Relevant External Links for PSAT1 Gene

GeneLoc Exon Structure for
PSAT1

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 and MOPED for PSAT1 Gene



Protein tissue co-expression partners for PSAT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSAT1

SOURCE GeneReport for Unigene cluster for PSAT1 Gene:

Hs.494261

mRNA Expression by UniProt/SwissProt for PSAT1 Gene:

Q9Y617-SERC_HUMAN
Tissue specificity: Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.

Evidence on tissue expression from TISSUES for PSAT1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Blood(4.6)
  • Kidney(3.1)
  • Liver(3)
  • Skin(2.9)
  • Intestine(2.7)
  • Pancreas(2.5)
  • Muscle(2.4)
  • Heart(2.2)
  • Adrenal gland(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PSAT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
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
Chimpanzee
(Pan troglodytes)
Mammalia PSAT1 30 31
  • 97.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PSAT1 30 31
  • 90.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PSAT1 30 31
  • 90 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PSAT1 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Psat1 30
  • 86.4 (n)
Mouse
(Mus musculus)
Mammalia Psat1 30 17 31
  • 86.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves PSAT1 30 31
  • 76.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PSAT1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia psat1 30
  • 74.25 (n)
Str.12078 30
Zebrafish
(Danio rerio)
Actinopterygii psat1 30 31
  • 68.13 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11899 30 31
  • 60.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004598 30
  • 58.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea F26H9.5 30 31
  • 56.28 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04818g 30
  • 53.17 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER1 30 31 33
  • 50.66 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR288W 30
  • 50.47 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PSAT 30
  • 56.89 (n)
Rice
(Oryza sativa)
Liliopsida Os.4891 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8876 31
  • 54 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F12.07 30
  • 51.24 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01429 30
  • 50.09 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4094 30
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

ENSEMBL:
Gene Tree for PSAT1 (if available)
TreeFam:
Gene Tree for PSAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSAT1: view image

Paralogs for PSAT1 Gene

Paralogs for PSAT1 Gene

Pseudogenes.org Pseudogenes for PSAT1 Gene

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

Variants for PSAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSAT1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
654599 Pathogenic: Neu-laxova syndrome 2 78,306,336(+) G/A NONSENSE
661070 Uncertain Significance: Neu-laxova syndrome 2 78,317,803(+) G/A MISSENSE_VARIANT
712336 Benign: Neu-laxova syndrome 2 78,308,539(+) G/A SYNONYMOUS_VARIANT
714429 Likely Benign: not provided 78,328,065(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
717594 Likely Benign: not provided 78,317,748(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PSAT1 Gene

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

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

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)

Additional Variant Information for PSAT1 Gene

Human Gene Mutation Database (HGMD)
PSAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSAT1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PSAT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PSAT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PSAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SERC_HUMAN
  • 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.
  • 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.

Additional Disease Information for PSAT1

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 JY … Kim YH (The Biochemical journal 2003) 2 3 4 23
  2. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. (PMID: 17436247) Hart CE … Van Schaftingen E (American journal of human genetics 2007) 3 4 23
  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 (American journal of human genetics 2014) 3 4
  4. Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells. (PMID: 18221502) Vié N … Gongora C (Molecular cancer 2008) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PSAT1 Gene

  • Signalway ELISA kits for PSAT1

Sources for PSAT1 Gene