ATIC wt Allele

Preferred Label : ATIC wt Allele;

NCIt synonyms : Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase Gene; AICARFT; AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme Gene; AICAR; PURH; AICARFT/IMPCHASE; IMPCHASE; FLJ93545; 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase wt Allele; OK/SW-cl.86;

NCIt definition : Human ATIC wild-type allele is located in the vicinity of 2q35 and is approximately 38 kb in length. This allele, which encodes bifunctional purine biosynthesis protein PURH, is involved in the synthesis of purines. A chromosomal inversion inv(2)(p23q35) involving this gene and the ALK gene is associated with rare cases of ALK-positive anaplastic large cell lymphoma.;

GenBank Accession Number : NM_004044;

Détails

Origin ID

C97401;

UMLS CUI

C3273396;

Automatic exact mappings (from CISMeF team)
- 5-amino-1-(5-o-phosphono-.beta.-d-ribofuranosyl)-1h-imidazole-4-carboxamide [Substance BNPC]
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [ORDO Gene]
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase [OMIM gene]
- AICA ribonucleotide [MeSH Supplementary Concept]
OMIM relation
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q35 [NCIt concept]
gene_is_element_in_pathway
- One Carbon Pool by Folate Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

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