PLCE1 wt Allele

Preferred Label : PLCE1 wt Allele;

NCIt synonyms : RP11-76P2.1; PPLC; Phospholipase C, Epsilon-1 Gene; Nephrosis Type 3 Gene; PLCE; NPHS3; KIAA1516; Phospholipase C, Epsilon 1 wt Allele;

NCIt definition : Human PLCE1 wild-type allele is located in the vicinity of 10q23 and is approximately 334 kb in length. This allele, which encodes 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 protein, plays a role in signal transduction, cell growth, cell survival and lipid modification. Mutation of the gene is associated with nephrotic syndrome 3.;

GenBank Accession Number : NM_016341;

Details

Origin ID

C115068;

UMLS CUI

C3889281;

Automatic exact mappings (from CISMeF team)
- Phospholipase C, epsilon-1 [OMIM gene]
- nephrosis, congenital [MeSH Supplementary Concept]
- phospholipase C epsilon 1 [ORDO Gene]
OMIM relation
- Phospholipase C, epsilon-1 [OMIM gene]
See also inter- (CISMeF)
- Nephrotic syndrome, type 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Phospholipase C-Epsilon Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Fatty Acid Metabolism [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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