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
- Caenorhabditis elegans
- T07H6.4
- Danio rerio
- rca2.2
- Danio rerio
- rca2.1
- Drosophila melanogaster
- CG10186
- Mus musculus
- Cr1l
- Rattus norvegicus
- Cr1l
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