LongevityMap Gene

Gene details

HGNC symbol
CR1 
Aliases
KN; C3BR; C4BR; CD35 
Common name
complement C3b/C4b receptor 1 (Knops blood group) 
Description
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]
Cytogenetic Location
1q32.2
UCSC Genome Browser
View 1q32.2 on the UCSC genome browser
OMIM
120620
Ensembl
ENSG00000203710
UniProt/Swiss-Prot
CR1_HUMAN
Entrez Gene
1378
UniGene
334019
1000 Genomes
1000 Genomes

Homologs in model organisms

Drosophila melanogaster
CG10186

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American, English, Irish
Study Design
10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
Conclusions
Apart APOE, no variants appeared to be associated with aging with a genome-wide level of significance
Indentifier
rs3818361
Reference