PCSK1 wt Allele

Preferred Label : PCSK1 wt Allele;

NCIt synonyms : SPC3; BMIQ12; Proprotein Convertase Subtilisin/Kexin Type 1 wt Allele; PC1; PC3; NEC1;

NCIt definition : Human PCSK1 wild-type allele is located within 5q15-q21 and is approximately 44 kb in length. This allele, which encodes neuroendocrine convertase 1 protein, is involved in the activation of neuropeptides and protein hormones. Mutation of the gene is associated with proprotein convertase 1/3 deficiency and increased susceptibility to obesity.;

NCI Metathesaurus CUI : CL508920;

GenBank Accession Number : NM_000439;

Details

Origin ID

C127853;

UMLS CUI

C4282434;

Automatic exact mappings (from CISMeF team)
- B-cell antiproliferation factor 2 [OMIM gene]
- Chromobox 8 [OMIM gene]
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
- PC1 (body structure) [SNOMED CT concept]
- PC3 (body structure) [SNOMED CT concept]
- Pachyonychia congenita 1 [OMIM Phenotype]
- Pachyonychia congenita 3 [OMIM Phenotype]
- Proprotein convertase 1 (substance) [SNOMED CT concept]
- Proprotein convertase, subtilisin/kexin-type, 1 [OMIM gene]
- Signal peptidase complex, subunit 3 [OMIM gene]
- parvocellular oculomotor nucleus [UBERON concept]
- proprotein convertase subtilisin/kexin type 1 [ORDO Gene]
OMIM relation
- Proprotein convertase, subtilisin/kexin-type, 1 [OMIM gene]
See also inter- (CISMeF)
- Body mass index quantitative trait locus 12 [OMIM Phenotype]
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_plays_role_in_process
- Hydrolysis [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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