PSAT1 wt Allele

Preferred Label : PSAT1 wt Allele;

NCIt synonyms : EPIP; PSAT; PSA; Phosphoserine Aminotransferase 1 wt Allele;

NCIt definition : Human PSAT1 wild-type allele is located in the vicinity of 9q21.2 and is approximately 33 kb in length. This allele, which encodes phosphoserine aminotransferase protein, plays a role in the biosynthesis of amino acids. Mutation of the gene is associated with phosphoserine aminotransferase deficiency.;

NCIt note : Alternative splicing of the PSAT1 gene results in multiple transcript variants and pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. (EntrezGene);

GenBank Accession Number : BC004863;

Details

Origin ID

C113277;

UMLS CUI

C3810537;

Automatic exact mappings (from CISMeF team)
- Aminopeptidase, puromycin-sensitive [OMIM gene]
- Kallikrein-related peptidase 3 [OMIM gene]
- PSA [MedDRA LLT]
- Phosphoserine aminotransferase 1 [OMIM gene]
- Prostate specific antigen positive [ICD-11 Sub-sub category]
- Prostate-Specific antigen [MeSH Descriptor]
- Prostatic specific antigen [MedDRA Preferred Term]
- Protein s [OMIM gene]
- Salivary gland adenoma, pleomorphic [OMIM Phenotype]
- phosphoserine aminotransferase 1 [ORDO Gene]
- polysialic acid [MeSH Supplementary Concept]
OMIM relation
- Phosphoserine aminotransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Vitamin B6 Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]

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