Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NLS2, 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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity IBA 21873635
GO:0004648 Function O-phospho-L-serine:2-oxoglutarate aminotransferase activity NAS 10637769
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610936 19129 ENSG00000135069
Protein
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.
  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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Spastic tetraparesis Spastic tetraparesis ClinVar
Neu-Laxova Syndrome Neu-Laxova syndrome GenCC
Associations from Text Mining
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