Homo sapiens Gene: CR1
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)
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:207496147-207640647
Strand Forward strand
Band q32.2
Transcripts
ENST00000367053 ENSP00000356020
ENST00000367052 ENSP00000356019
ENST00000367051 ENSP00000356018
ENST00000367050
ENST00000367049 ENSP00000356016
ENST00000400960 ENSP00000383744
ENST00000436595
ENST00000450439
ENST00000434033
ENST00000530487
ENST00000534202 ENSP00000436139
ENST00000529814 ENSP00000434718
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001851 complement component C3b binding
GO:0001855 complement component C4b binding
GO:0001861 complement component C4b receptor activity
GO:0004877 complement component C3b receptor activity
Biological Process
GO:0002430 complement receptor mediated signaling pathway
GO:0006958 complement activation, classical pathway
GO:0030449 regulation of complement activation
GO:0045087 innate immune response
GO:0045957 negative regulation of complement activation, alternative pathway
GO:0045959 negative regulation of complement activation, classical pathway
GO:1900004 negative regulation of serine-type endopeptidase activity
GO:1900005 positive regulation of serine-type endopeptidase activity
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Innate Immune System pathway
Immune System pathway
Regulation of Complement cascade pathway
Complement cascade pathway
KEGG
Complement and coagulation cascades pathway
Hematopoietic cell lineage pathway
Leishmaniasis pathway
Malaria pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 1378
UniGene Hs.334019
RefSeq NM_000573 NM_000651 XM_006711166 XM_006711168
HUGO HGNC:2334
OMIM 120620
CCDS CCDS44308 CCDS44309
HPRD 00398
IMGT
EMBL
GenPept
RNA Seq Atlas 1378