Gene Gene information from NCBI Gene database.
Entrez ID 29968
Gene name Phosphoserine aminotransferase 1
Gene symbol PSAT1
Synonyms (NCBI Gene)
EPIPNLS2PSAPSATPSATD
Chromosome 9
Chromosome location 9q21.2
Summary 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 associa
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs118203967 A>C Pathogenic Coding sequence variant, missense variant
rs372232840 G>A,C Likely-pathogenic Intron variant
rs587777747 G>- Pathogenic Coding sequence variant, frameshift variant
rs587777776 CCGGG>AGACCT Pathogenic Coding sequence variant, frameshift variant
rs587777777 C>A,T Pathogenic Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
712
miRTarBase ID miRNA Experiments Reference
MIRT001427 hsa-miR-16-5p pSILAC 18668040
MIRT020766 hsa-miR-155-5p Proteomics 18668040
MIRT023797 hsa-miR-1-3p Proteomics 18668040
MIRT029458 hsa-miR-26b-5p Microarray 19088304
MIRT001427 hsa-miR-16-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity IBA
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity IDA 37627284
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity IEA
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity NAS 10637769
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610936 19129 ENSG00000135069
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y617
Protein name Phosphoserine aminotransferase (EC 2.6.1.52) (Phosphohydroxythreonine aminotransferase) (PSAT)
Protein function Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine. Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamina
PDB 3E77 , 8A5V , 8A5W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00266 Aminotran_5 7 357 Aminotransferase class-V Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon. {ECO:0000269|PubMed:12633500}.
Sequence
Sequence length 370
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Vitamin B6 metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Biosynthesis of cofactors
  Serine biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neu-Laxova syndrome 2 Likely pathogenic; Pathogenic rs376824714, rs2118643983, rs1828216198, rs2118681775, rs199998249, rs148598272, rs765723196, rs772958302, rs587777747, rs118203967, rs587777776, rs587777777, rs919827103, rs2489629517, rs2489697040
View all (12 more)
RCV002032850
RCV002046923
RCV002017210
RCV001939663
RCV001966488
View all (22 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurometabolic disorder due to serine deficiency Likely pathogenic; Pathogenic rs376824714 RCV005361710
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSAT deficiency Likely pathogenic; Pathogenic rs148598272, rs587777747, rs118203967, rs2489629517, rs1554686365, rs1828113460 RCV001808201
RCV000001136
RCV000001137
RCV005399030
RCV003388586
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSAT1-related disorder Likely pathogenic; Pathogenic rs118203967, rs2489697040, rs2489644879, rs2489645698, rs1057517807 RCV006263611
RCV003230758
RCV003331902
RCV003994858
RCV005238963
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 28081259
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12530069, 18491956, 2195744, 31013476, 9712452
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31036704
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 10188912, 10667479, 15350307, 18584300, 23318356, 29416625, 29894516, 30402808, 30789396, 31162264, 31304057
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29998354
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12955080
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets HPO_DG
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only