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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
375
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001972869
RCV001901588
RCV002045140
RCV003586120
RCV003586121
RCV000144446
RCV000144447
RCV003060182
RCV002952911
RCV002953061
RCV003013390
RCV003016652
RCV003033065
RCV003777339
RCV003748487
RCV003586619
RCV003587095
RCV003843829
RCV005064943
RCV000819927
RCV000702162
RCV000810596
Neurometabolic disorder due to serine deficiency Likely pathogenic; Pathogenic rs376824714 RCV005361710
PSAT deficiency Likely pathogenic; Pathogenic rs148598272, rs587777747, rs118203967, rs2489629517, rs1554686365, rs1828113460 RCV001808201
RCV000001136
RCV000001137
RCV005399030
RCV003388586
RCV004004918
PSAT1-related disorder Likely pathogenic; Pathogenic rs118203967, rs2489697040, rs2489644879, rs2489645698, rs1057517807 RCV006263611
RCV003230758
RCV003331902
RCV003994858
RCV005238963
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs762436279 RCV005908866
Hepatocellular carcinoma Benign rs3780194 RCV005913018
High myopia Uncertain significance rs753331548 RCV000785711
Microcephaly Uncertain significance rs774962204, rs1828156344 RCV001252716
RCV001252717
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 33112838, 34990474, 35045283, 35231654, 40691196
Carcinoma Ductal Associate 25053597
Carcinoma Hepatocellular Associate 30176945
Carcinoma Lobular Associate 25053597
Carcinoma Medullary Inhibit 27277113
Carcinoma Non Small Cell Lung Associate 37919070
Carcinoma Renal Cell Associate 22321069, 32737333, 33564363
Cell Transformation Neoplastic Stimulate 18221502
Colitis Ulcerative Associate 39596612
Colonic Neoplasms Stimulate 18221502