FBP1 wt Allele

Preferred Label : FBP1 wt Allele;

NCIt synonyms : FBP; RP11-342C23.1; Fructose-1,6-Bisphosphatase 1 wt Allele;

NCIt definition : Human FBP1 wild-type allele is located in the vicinity of 9q22.3 and is approximately 37 kb in length. This allele, which encodes fructose-1,6-bisphosphatase 1 protein, is involved in gluconeogenesis. Mutation of the gene is associated with fructose-1,6-bisphosphatase deficiency, which can cause life-threatening episodes of hypoglycemia and metabolic acidosis.;

NCIt note : Somatic mutation of resulting in the loss of the FBP1 gene may be associated with clear cell renal cell carcinoma. (Nature. 2014; 511: doi:10.1038/nature13557.);

GenBank Accession Number : M19922;

PubMed : 25043030;

Details

Origin ID

C117101;

UMLS CUI

C3889142;

Automatic exact mappings (from CISMeF team)
- Far upstream element-binding protein 1 [OMIM gene]
- Folate receptor, alpha [OMIM gene]
- fructose-bisphosphatase 1 [ORDO Gene]
OMIM relation
- Fructose-1,6-bisphosphatase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q22.3 [NCIt concept]
gene_is_element_in_pathway
- Fructose and Mannose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Pentose Phosphate Cycle Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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