CR1

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, Jul 2008]

Description

complement component (3b/4b) receptor 1 (Knops blood group)

Protein family

Blood group antigen proteins, CD markers, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Chromosome

1:q32.2 (207669492 - 207813992)

Ensembl ID

ENSG00000203710  (ver. 71.37)

Orthologs

-

Human splice variants