Homo sapiens Gene: CR1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-106358.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CR1 | ||||||||||||||||||
Gene Name | complement component (3b/4b) receptor 1 (Knops blood group) | ||||||||||||||||||
Synonyms | C3BR; C4BR; CD35; KN | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000203710 | ||||||||||||||||||
Encoded Proteins |
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
complement component (3b/4b) receptor 1 (Knops blood group)
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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] 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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 1:207496147-207640647 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q32.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Regulation of Complement cascade pathway
Innate Immune System pathway
Immune System pathway
Complement cascade pathway
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KEGG |
Hematopoietic cell lineage pathway
Complement and coagulation cascades pathway
Leishmaniasis pathway
Malaria pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | B4DPT3 E9PDY4 Q9HB99 Q9UQR7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1378 | ||||||||||||||||||
UniGene | Hs.334019 | ||||||||||||||||||
RefSeq | NM_000651 XM_006711166 NM_000573 XM_006711168 | ||||||||||||||||||
HUGO | HGNC:2334 | ||||||||||||||||||
OMIM | 120620 | ||||||||||||||||||
CCDS | CCDS44308 CCDS44309 | ||||||||||||||||||
HPRD | 00398 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF264715 AK298486 AL137789 AL691452 M31238 M31239 M31240 M31241 | ||||||||||||||||||
GenPept | AAD15289 AAG14442 BAG60695 | ||||||||||||||||||
RNA Seq Atlas | 1378 | ||||||||||||||||||