| Entrez gene ID | | 1378 |
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| Official gene symbol | | CR1 |
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| Full name | | complement component (3b/4b) receptor 1 (Knops blood group) |
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| Aliases | | ,C3BR,C4BR,CD35,KN, |
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| Gene summary | | This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein 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 a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq] |
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| Location | | Chromosome: 1 Locus: 1q32 |
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| Gene position | | 207669473 - 207815110 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 145638 bp |
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| Gene sequence |
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| OMIM ID | | 120620 |
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