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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 genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). 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 this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]
CR1 (Complement C3b/C4b Receptor 1 (Knops Blood Group)) is a Protein Coding gene. Diseases associated with CR1 include Malaria and Plasmodium Falciparum Malaria. Among its related pathways are Immune response Lectin induced complement pathway and Tuberculosis. Gene Ontology (GO) annotations related to this gene include complement component C3b binding and complement component C4b receptor activity. An important paralog of this gene is SVEP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001618 | virus receptor activity | IEA | -- |
GO:0001851 | complement component C3b binding | IDA | 2972794 |
GO:0001855 | complement component C4b binding | IDA | 2972794 |
GO:0001861 | complement component C4b receptor activity | IDA | 2972794 |
GO:0004877 | complement component C3b receptor activity | IDA | 2972794 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IDA | 6910481 |
GO:0009986 | cell surface | IDA | 2972794 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
|
|
2 | Innate Immune System |
.61
|
|
3 | Complement and coagulation cascades | ||
4 | Hematopoietic cell lineage | ||
5 | Legionellosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0002430 | complement receptor mediated signaling pathway | IEA | -- |
GO:0006958 | complement activation, classical pathway | IEA | -- |
GO:0016032 | viral process | IEA | -- |
GO:0030449 | regulation of complement activation | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC102157092 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cr1l 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | ntd5 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10186 32 |
|
|
|
fw 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T07H6.5 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
807910 | Uncertain Significance: not provided | 207,523,933(+) | T/C | SYNONYMOUS_VARIANT | |
807911 | Uncertain Significance: not provided | 207,545,489(+) | C/T | INTRON_VARIANT | |
807912 | Uncertain Significance: not provided | 207,609,434(+) | G/A | MISSENSE_VARIANT | |
812547 | Uncertain Significance: Anxiety; Hypothyroidism; Polyarticular arthritis | 207,609,676(+) | C/A | MISSENSE_VARIANT | |
rs115988205 | Likely Benign: not provided | 207,607,240(+) | C/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
malaria |
|
|
plasmodium falciparum malaria |
|
|
follicular dendritic cell sarcoma |
|
|
histiocytic and dendritic cell cancer |
|
|
glomerulonephritis |
|