Trifunctional Purine Biosynthetic Protein Adenosine-3

Preferred Label : Trifunctional Purine Biosynthetic Protein Adenosine-3;

NCIt synonyms : 5'-Phosphoribosylglycinamide Transformylase; Phosphoribosyl-Aminoimidazole Synthetase; EC 6.3.4.13; Phosphoribosylamine-Glycine Ligase; Glycinamide Ribonucleotide Formyltransferase; EC 2.1.2.2; Phosphoribosylformylglycinamidine Cyclo-Ligase; EC 6.3.3.1; AIR Synthase; GARS-AIRS-GART; Phosphoribosylglycinamide Formyltransferase; GARS; GAR Transformylase; GART; Glycinamide Ribonucleotide Synthetase; Phosphoribosylamine--Glycine Ligase; Phosphoribosylglycinamide Synthetase; AIRS;

NCIt definition : Trifunctional purine biosynthetic protein adenosine-3 (1010 aa, 108 kDa) is encoded by the human GART gene. This protein is involved in the de novo biosynthesis of purine nucleotides.;

NCIt note : Alternative splicing generates a second isoform that is C-terminally truncated has only glycinamide ribonucleotide synthetase (GARS) activity. (OMIM and UniProt);

Details

Origin ID

C128850;

UMLS CUI

C1530787;

Automatic exact mappings (from CISMeF team)
- Glycyl-trna synthetase 1 [OMIM gene]
- Phosphoribosylamine-glycine ligase (substance) [SNOMED CT concept]
- Phosphoribosylformylglycinamidine cyclo-ligase (substance) [SNOMED CT concept]
- Phosphoribosylglycinamide formyltransferase (substance) [SNOMED CT concept]
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
- W air [LOINC Challenge]
- glycyl-tRNA synthetase 1 [ORDO Gene]
- phosphoribosylamine-glycine ligase [SNOMED Notion]
- phosphoribosylamine-glycine ligase [MeSH concept]
- phosphoribosylamine-glycine ligase [MeSH Supplementary Concept]
- phosphoribosylformylglycinamidine cyclo-ligase [SNOMED Notion]
- phosphoribosylglycinamide formyltransferase [MeSH concept]
- phosphoribosylglycinamide formyltransferase [MeSH Descriptor]
- phosphoribosylglycinamide formyltransferase [SNOMED Notion]
- phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [HGNC gene]
OMIM relation
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- GART protein, human [MeSH Supplementary Concept]
- GART protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GART Gene [NCIt concept]
- Ligase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytosol [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- One Carbon Pool by Folate Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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