GeneID: 93



Names

Common Name: CR1 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_007481.1 (CR1)
HUGO Symbol: CR1 Full Name: complement component 3b/4b receptor 1 (Knops blood group)
Exons: 39 Introns: 38

Description:
The encoded protein is a single chain type I transmembrane glycoprotein. It is expressed by most blood cells, including phagocytic cells, B-lymphocytes and erythrocytes. A group of nine antigens located on the CR1 molecule form the Knops blood group system. The CR1 protein plays key roles in the regulation of complement activation, phagocytosis and removal of complement-opsonized immune complexes and pathogens from circulation. It also acts as an erythroid receptor for the malarial parasite Plasmodium falciparum, and is involved in red cell rosetting during cerebral malaria. Reduction in protein expression and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with reduced rosetting and therefore protection against severe malaria. Polymorphisms in this gene associated with pulmonary hypertension in sickle cell patients. Alternate allele-specific splice variants, encoding different isoforms, have been characterized.

Synonyms: KN , C3BR , C4BR , CD35

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
  2. Noris M, Remuzzi G, Overview of complement activation and regulation., Semin. Nephrol. , 33(6), 479-92, 2013 PubMed
Created on 2016-04-26 18:50:01, Last reviewed on 2016-04-27 09:07:31 (Show full history)


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