Human Gene CR1 (ENST00000400960.7) Description and Page Index
  Description: Mediates cellular binding of particles and immune complexes that have activated complement. (from UniProt P17927)
Gencode Transcript: ENST00000400960.7
Gencode Gene: ENSG00000203710.12
Transcript (Including UTRs)
   Position: hg38 chr1:207,496,147-207,641,765 Size: 145,619 Total Exon Count: 39 Strand: +
Coding Region
   Position: hg38 chr1:207,496,268-207,639,409 Size: 143,142 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:207,496,147-207,641,765)mRNA (may differ from genome)Protein (2039 aa)
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-  Comments and Description Text from UniProtKB
  ID: CR1_HUMAN
DESCRIPTION: RecName: Full=Complement receptor type 1; AltName: Full=C3b/C4b receptor; AltName: CD_antigen=CD35; Flags: Precursor;
FUNCTION: Mediates cellular binding of particles and immune complexes that have activated complement.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Present on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells.
POLYMORPHISM: CR1 contains a system of antigens called the Knops blood group system. Polymorphisms within this system are involved in malarial rosetting, a process associated with cerebral malaria, the major cause of mortality in Plasmodium falciparum malaria. Common Knops system antigens include McCoy (McC) and Sl(a)/Vil (Kn4, or Swain-Langley; Vil or Villien). Sl(a-) phenotype is more common in persons of African descent and may protect against fatal malaria.
POLYMORPHISM: Other polymorphic forms of CR1 contain 23, 37 or 44 Sushi (CCP/SCR) domains instead of the 30 Sushi (CCP/SCR) domains. The most frequent alleles are the F allotype (shown here) and the S allotype (37 repeat Sushi domains). The gene frequencies of the F allotype and S allotype are 0.87 and 0.11 in Caucasians, 0.82 and 0.11 in African Americans, 0.89 and 0.11 in Mexicans.
POLYMORPHISM: Genetic variations in CR1 resulting in CR1 deficiency are involved in protection against severe malaria [MIM:611162]. Parasitized red blood cells (RBCs) from children suffering from severe malaria often adhere to complement receptor 1 (CR1) on uninfected RBCs to form clumps of cells known as rosettes. CR1-deficient red blood cells show greatly reduced rosetting and CR1 deficiency occurs in healthy individuals from malaria-endemic regions.
SIMILARITY: Belongs to the receptors of complement activation (RCA) family.
SIMILARITY: Contains 30 Sushi (CCP/SCR) domains.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=knops";

+  Protein Domain and Structure Information
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-  Other Names for This Gene
  UCSC ID: ENST00000400960.7
Representative RNA: LP895160
Protein: P17927 (aka CR1_HUMAN)

+  Methods, Credits, and Use Restrictions
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