PSAT1 (phosphoserine aminotransferase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29968
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoserine aminotransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSAT1
Synonyms (NCBI Gene) Gene synonyms aliases
EPIP, NLS2, PSA, PSAT, PSATD
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.2
Summary Summary of gene provided in NCBI Entrez 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 associa
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610936 19129 ENSG00000135069
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neu-Laxova Syndrome neu-laxova syndrome 2 rs587777776, rs587777777, rs587777778, rs1057517807, rs1564012541, rs1008314756, rs587777747, rs118203967 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Motion Sickness Motion sickness N/A N/A GWAS
Show/Hide Text Mining Associations (49)
Associations from Text Mining Disease 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