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Gene : CR1 Homo sapiens

Name  ? complement C3b/C4b receptor 1 (Knops blood group) Cytological Location  1q32.2
Brief Description  complement C3b/C4b receptor 1 (Knops blood group)
Description  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]
  • synonyms:
  • OTTHUMG00000036311,
  • Y00816,
  • complement component (3b/4b) receptor 1 (Knops blood group),
  • complement component (3b/4b) receptor 1, including Knops blood group system,
  • CD35,
  • complement component 3b/4b receptor 1 (Knops blood group),
  • HGNC:2334,
  • CD35,
  • CR1,
  • KN,
  • uc001hfx.4,
  • NM_000573,
  • C3BR,
  • KN,
  • C4BR
  • identifiers:
  • 1378,
  • ENSG00000203710,
  • CR1

Genome feature

Region: gene ? Length: 145614  
Location: 1:207496152-207641765 Cyto location: 1q32.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

526 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results