CR1 wt Allele - CISMeF

Preferred Label : CR1 wt Allele;

NCIt synonyms : C3BR; Complement Component (3b/4b) Receptor 1 (Knops Blood Group) wt Allele; C4BR; KN; Complement Component (3b/4b) Receptor 1, Including Knops Blood Group System Gene; CD35;

NCIt definition : Human CR1 wild-type allele is located in the vicinity of 1q32 and is approximately 146 kb in length. This allele, which encodes complement receptor type 1 protein, plays a role in complement-mediated immunity. Genetic polymorphisms are associated with the extent of malarial rosetting, and can confer protection against severe malaria. Genetic variation of the gene may contribute to Alzheimer's Disease.;

NCIt note : This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1.; CR1 polymorphisms comprise a system of antigens called the Knops blood group system.;

GenBank Accession Number : Y00816;

Details

Origin ID

C84438;

UMLS CUI

C2827451;

False automatic mappings
- Split-hand with congenital nystagmus, fundal changes, and cataracts [OMIM Phenotype]
OMIM relation
- Complement component receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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