| CR1 — Complement Component 1q Receptor | |
|---|---|
| Symbol | CR1 |
| Full Name | Complement Component 1q Receptor |
| Chromosome | 1q32.2 |
| NCBI Gene | 1378 |
| Ensembl | ENSG00000203797 |
| OMIM | 120600 |
| UniProt | P08578 |
| Diseases | Alzheimer's Disease, Systemic Lupus Erythematosus |
| Expression | Blood cells, Brain, Kidney, Spleen |
Cr1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
CR1 (Complement Component 1q Receptor, also known as CD35) is a gene located on chromosome 1q32.2 that encodes a complement receptor protein[1]. Genetic variants in CR1 are associated with an increased risk of late-onset Alzheimer's Disease[2]. The gene is catalogued as NCBI Gene ID 1378.
CR1 plays critical roles in the immune system and has been implicated in Alzheimer's disease pathogenesis through its involvement in complement-mediated inflammation and amyloid clearance[3]. The protein is expressed primarily on immune cells including erythrocytes, leukocytes, and glomerular podocytes, as well as on microglia in the brain[4].
The CR1 gene encodes a transmembrane glycoprotein that serves as a receptor for complement component C1q and other complement proteins[1:1]. The protein contains multiple short consensus repeat (SCR) domains that mediate protein-protein interactions with complement components.
CR1 is a large transmembrane glycoprotein with several key structural features:
In the central nervous system, CR1 is expressed on microglia and participates in:
CR1 variants are significantly associated with late-onset Alzheimer's disease. GWAS have identified multiple single nucleotide polymorphisms (SNPs) in the CR1 gene that modify AD risk[2:1][10]:
The mechanism by which CR1 variants influence AD risk involves:
CR1 deficiency is associated with autoimmune conditions including systemic lupus erythematosus (SLE)[13]:
CR1 has been implicated in several other diseases:
CR1 shows population-specific allele frequencies that influence disease risk:
CR1 expression varies across tissues and cell types:
CR1 represents a potential therapeutic target for Alzheimer's disease due to its role in:
Current research on CR1 focuses on:
The study of Cr1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Klickstein, L.B., et al. (1997). Characterization of the murine C1q receptor-encoding gene. Gene. PMID:9324664. ↩︎ ↩︎ ↩︎
Lambert, J.C., et al. (2009). Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nature Genetics. PMID:19734903. ↩︎ ↩︎ ↩︎ ↩︎
Jacobson, D.R. & Moore, D.M. (2000). Complement receptor 1 (CR1) deficiency and autoimmunity. Autoimmunity. PMID:11195580. ↩︎ ↩︎ ↩︎ ↩︎ ↩︎
McGreal, E.P., et al. (2004). Receptor for complement C1q. Immunology. PMID:15027902. ↩︎ ↩︎ ↩︎ ↩︎
Roozendaal, R. & Carroll, M.C. (2006). Complement receptors CD21/CD35 in B cell activation and humoral immunity. Advances in Immunology. PMID:16730262. ↩︎ ↩︎
Stubbings, G.J., et al. (1993). CR1: the immune adherence receptor. Biochemistry. PMID:7506687. ↩︎
Cohen, J.H., et al. (1989). CR1 (CD35) and CR2 (CD21) complement receptors. Immunology Today. PMID:2694836. ↩︎ ↩︎
Stevens, B., et al. (2007). The classical complement cascade mediates CNS synapse elimination. Cell. PMID:18078582. ↩︎ ↩︎ ↩︎
Cashman, C.R. & Hoon, M.A. (2010). Complement and microglia in development and disease. Brain Research. PMID:20079443. ↩︎ ↩︎ ↩︎
Naj, A.C., et al. (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. PMID:21304153. ↩︎ ↩︎ ↩︎ ↩︎
Jun, G., et al. (2010). Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease susceptibility loci. Archives of Neurology. PMID:20697030. ↩︎ ↩︎
Zhu, X.C., et al. (2012). Complement receptor 1 polymorphisms and risk of late-onset Alzheimer's disease. Brain Research. PMID:22818851. ↩︎ ↩︎ ↩︎
Ross, G.D., et al. (1985). CR1 (the C3b receptor) on erythrocytes from normal and SLE individuals. Journal of Immunology. PMID:3879020. ↩︎
Sun, C., et al. (2016). Complement factor H genetic variants and age-related macular degeneration. Lancet. PMID:27053268. ↩︎
Ingram, G., et al. (2012). Complement regulator factor H in multiple sclerosis. Journal of Neuroimmunology. PMID:22677428. ↩︎
Thathy, V., et al. (2002). CR1 Knops blood group antigens influence the binding of Plasmodium falciparum erythrocyte membrane protein 1. Molecular and Biochemical Parasitology. PMID:11879736. ↩︎
Karch, C.M., et al. (2012). Alzheimer's disease genetics: current knowledge and future challenges. International Journal of Alzheimer's Disease. PMID:22888268. ↩︎