KEL wt Allele - CISMeF

Preferred Label : KEL wt Allele;

NCIt synonyms : ECE3; CD238; Kell Blood Group, Metallo-Endopeptidase wt Allele; Kell Blood Group Gene; Kell Blood Group, Metalloendopeptidase;

NCIt definition : Human KEL wild-type allele is located in the vicinity of 7q34 and is approximately 22 kb in length. This allele, which encodes Kell blood group glycoprotein, plays a role in peptide hormone-converting enzyme activity. Point mutations in the gene determine an individual's Kell blood group antigen profile.;

NCI Metathesaurus CUI : CL545855;

GenBank Accession Number : BC003135;

Details

Origin ID

C147985;

UMLS CUI

C4553633;

Automatic exact mappings (from CISMeF team)
- Kell blood group metalloendopeptidase [OMIM gene]
- Kell blood group, metallo-endopeptidase [ORDO Gene]
OMIM relation
- Kell blood group metalloendopeptidase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q34 [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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