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Aliases for PSAT1 Gene

Aliases for PSAT1 Gene

  • Phosphoserine Aminotransferase 1 2 3
  • PSAT 3 4 6
  • Phosphohydroxythreonine Aminotransferase 3 4
  • EC 2.6.1.52 4 63
  • EPIP 3 6
  • PSA 3 4
  • Endometrial Progesterone-Induced Protein 3
  • Phosphoserine Aminotransferase 3
  • PSATD 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

Genomic Location for PSAT1 Gene

Start:
78,297,075 bp from pter
End:
78,330,093 bp from pter
Size:
33,019 bases
Orientation:
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:
    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; 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

    UniProtKB/Swiss-Prot:

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

Other Protein References for PSAT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PSAT1 Gene

Suggested Antigen Peptide Sequences for PSAT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y617

UniProtKB/Swiss-Prot:

SERC_HUMAN :
  • Q9Y617
Family:
  • 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:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with PSAT1: view
genes like me logo Genes that share phenotypes with PSAT1: view

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

Localization for PSAT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSAT1 Gene COMPARTMENTS Subcellular localization image for PSAT1 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 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 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: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

Compounds for PSAT1 Gene

(11) HMDB Compounds for PSAT1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Oxo-3-hydroxy-4-phosphobutanoic acid
  • alpha-Keto-3-hydroxy-4-phosphobutyrate
Not Available
DL-O-Phosphoserine
  • 3-phospho-1-serine
17885-08-4
Famotidine
  • Amfamox
76824-35-6
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
O-Phospho-4-hydroxy-L-threonine
  • 4-(Phosphonooxy)-threonine
Not Available

(2) Drugbank Compounds for PSAT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(9) Novoseek inferred chemical compound relationships for PSAT1 Gene

Compound -log(P) Hits PubMed IDs
phosphoserine 85.9 25
pyridoxal 5-phosphate 47.6 1
finasteride 42.1 2
flutamide 40.7 2
alanine 24.3 2
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:

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
ECgene alternative splicing isoforms for
PSAT1

Expression for PSAT1 Gene

mRNA expression in normal human tissues for PSAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

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

No data available for 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 35
  • 97.93 (n)
  • 97.34 (a)
PSAT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSAT1 35
  • 90 (n)
  • 92.7 (a)
PSAT1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSAT1 35
  • 90.99 (n)
  • 94.59 (a)
PSAT1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psat1 35
  • 86.31 (n)
  • 92.43 (a)
Psat1 16
Psat1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSAT1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Psat1 35
  • 86.4 (n)
  • 91.89 (a)
chicken
(Gallus gallus)
Aves PSAT1 35
  • 76.51 (n)
  • 81.3 (a)
PSAT1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSAT1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psat1 35
  • 74.25 (n)
  • 80.22 (a)
Str.12078 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
psat1 35
  • 68.13 (n)
  • 75.34 (a)
psat1 36
  • 75 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F26H9.5 35
  • 56.28 (n)
  • 53.28 (a)
F26H9.5 36
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR288W 35
  • 50.47 (n)
  • 45.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER1 35
  • 50.66 (n)
  • 43.79 (a)
SER1 36
  • 39 (a)
OneToOne
SER1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04818g 35
  • 53.17 (n)
  • 44.35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PSAT 35
  • 56.89 (n)
  • 51.96 (a)
rice
(Oryza sativa)
Liliopsida Os.4891 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 intestinalis)
Ascidiacea Cin.4094 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8876 36
  • 54 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PSAT1 (if available)
TreeFam:
Gene Tree for PSAT1 (if available)

Paralogs for PSAT1 Gene

Pseudogenes.org 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

Relevant External Links for PSAT1 Gene

HapMap Linkage Disequilibrium report
PSAT1
Human Gene Mutation Database (HGMD)
PSAT1

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

Disorders for PSAT1 Gene

(1) OMIM Diseases for PSAT1 Gene (610936)

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.

(3) University of Copenhagen DISEASES for PSAT1 Gene

(8) Novoseek inferred disease relationships for PSAT1 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 57.1 17
prostate carcinoma 50.7 3
benign prostatic hyperplasia 36.9 4
prostatic adenocarcinoma 33.5 1
shock 15.4 1

Relevant External Links for PSAT1

Genetic Association Database (GAD)
PSAT1
genes like me logo Genes that share disorders with PSAT1: view

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 23
  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 23
  3. 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 23
  4. 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
  5. A novel progesterone-induced messenger RNA in rabbit and human endometria. Cloning and sequence analysis of the complementary DNA. (PMID: 3651428) Misrahi M. … Milgrom E. (Biochemistry 1987) 2 3

Products for PSAT1 Gene

Sources for PSAT1 Gene

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