AK1 wt Allele - CISMeF

Preferred Label : AK1 wt Allele;

NCIt synonyms : HTL-S-58j; Adenylate Kinase 1 wt Allele; Adenylate Kinase, Soluble Gene;

NCIt definition : Human AK1 wild-type allele is located in the vicinity of 9q34.11 and is approximately 13 kb in length. This allele, which encodes adenylate kinase isoenzyme 1 protein, is involved in energy metabolism and homeostasis of cellular adenine nucleotide. Loss of function mutations in the gene are associated with hemolytic anemia due to adenylate kinase deficiency.;

NCI Metathesaurus CUI : CL1798904;

GenBank Accession Number : J04809;

Details

Origin ID

C190404;

UMLS CUI

C5780969;

OMIM relation
- Adenylate kinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Adenylate kinase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.11 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
- Thiamine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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