InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-106360

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-106362

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-106364

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-106369

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-226982

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-586317

complement component (3b/4b) receptor 1 (Knops blood group)

IDBP-586274

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

REACT_118707

Regulation of Complement cascade pathway

REACT_6802

Innate Immune System pathway

REACT_6900

Immune System pathway

REACT_6932

Complement cascade pathway

KEGG

hsa04640

Hematopoietic cell lineage pathway

hsa04610

Complement and coagulation cascades pathway

hsa05140

Leishmaniasis pathway

hsa05144

Malaria pathway

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