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    CR1 complement component (3b/4b) receptor 1 (Knops blood group) [ Homo sapiens ]

    Gene ID: 1378, updated on 19-May-2012

    Summary

    Official Symbol
    CR1provided by HGNC
    Official Full Name
    complement component (3b/4b) receptor 1 (Knops blood group)provided by HGNC
    Primary source
    HGNC:2334
    Locus tag
    RP11-57I17.1
    See related
    Ensembl:ENSG00000203710; HPRD:00398; MIM:120620; Vega:OTTHUMG00000036311
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KN; C3BR; C4BR; CD35
    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]

    Genomic context

    Location :
    1q32
    Sequence :
    Chromosome: 1; NC_000001.10 (207669473..207815110)

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene CD55 molecule, decay accelerating factor for complement (Cromer blood group) Neighboring gene complement component (3d/Epstein Barr virus) receptor 2 Neighboring gene cell division cycle associated 4 pseudogene Neighboring gene CD46 molecule, complement regulatory protein pseudogene 1 Neighboring gene complement component (3b/4b) receptor 1-like

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P17927 P02745 C1QA    HPRD  PubMed  
    P17927 P01024 C3    HPRD  PubMed  
    P17927 P0C0L4 C4A    HPRD  PubMed  
    P17927 P08174 CD55    HPRD  PubMed  
    P17927 P20023 CR2    HPRD  PubMed  
    P17927 P22083 FUT4    HPRD  PubMed  
    P17927 Complement component 4B     HPRD  PubMed  
    BioGRID:107769 BioGRID:107771 CR2    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Pathways from BioSystems

    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemThe complement system is a biochemical cascade, so named because it 'complements' the ability of antibodies to clear pathogens. It is part of the innate immune system. Complement system proteins circ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Legionellosis, organism-specific biosystem (from KEGG)
      Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Legionellosis, conserved biosystem (from KEGG)
      Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Leishmaniasis, organism-specific biosystem (from KEGG)
      Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leishmaniasis, conserved biosystem (from KEGG)
      Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
      Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    complement component C3b binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement component C3b receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement component C4b binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement component C4b receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    complement receptor type 1
    Names
    complement receptor type 1
    CD35 antigen
    C3b/C4b receptor
    C3-binding protein
    Knops blood group antigen
    complement component receptor 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007481.1 RefSeqGene

      Range
      5001..150638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000573.3NP_000564.2  complement receptor type 1 isoform F precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (F, also referred to as A) lacks several alternate exons, compared to variant S, but maintains the reading frame. The resulting protein (F, also referred to as isoform A) is shorter than isoform S.
      Source sequence(s)
      AL137789, AL691452, BF900429, BX113709, BX643705, Y00816
      Consensus CDS
      CCDS44309.1
      UniProtKB/Swiss-Prot
      P17927
      Related
      ENSP00000383744, OTTHUMP00000034454, ENST00000400960, OTTHUMT00000088335
      Conserved Domains (3) summary
      cd00033
      Location:11971253
      Blast Score: 160
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:489745
      Blast Score: 313
      PHA02927; secreted complement-binding protein; Provisional
      cl00043
      Location:4399
      Blast Score: 105
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    2. NM_000651.4NP_000642.3  complement receptor type 1 isoform S precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (S, also referred to as B) represents the longer transcript and encodes the longer isoform (S, also referred to as isoform B).
      Source sequence(s)
      AL137789, AL691452, BC032550, BF900429, BX113709, BX643705, Y00816
      Consensus CDS
      CCDS44308.1
      UniProtKB/TrEMBL
      E9PDY4
      UniProtKB/Swiss-Prot
      P17927
      Related
      ENSP00000356016, OTTHUMP00000228815, ENST00000367049, OTTHUMT00000382527
      Conserved Domains (3) summary
      cd00033
      Location:16471703
      Blast Score: 160
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:489745
      Blast Score: 312
      PHA02927; secreted complement-binding protein; Provisional
      cl00043
      Location:4399
      Blast Score: 105
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      207669473..207815110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1

      Range
      178362547..178489425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NW_001842001.1 

      Range
      923..1816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF169969.1 AAG09139.1
    genomic AF169970.1 AAG09140.1
    genomic AF264715.1 AAG14442.1
    genomic AF264716.1 AAG14443.1
    genomic AL137789.11 CAI16042.1
      CAI16043.1
      CAI16044.1
    genomic AL691452.10 CAI16723.1
      CAI16724.1
      CAI16725.1
      CAI16726.1
      CAI16727.1
      CAI16728.1
    genomic AY701493.1 AAV65566.1
    genomic AY701494.1 AAV65567.1
    genomic AY701495.1 AAV65568.1
    genomic AY701496.1 AAV65569.1
    genomic AY701497.1 AAV65570.1
    genomic AY701498.1 AAV65571.1
    genomic AY701499.1 AAV65572.1
    genomic AY701500.1 AAV65573.1
    genomic AY701501.1 AAV65574.1
    genomic AY701502.1 AAV65575.1
    genomic AY701503.1 AAV65576.1
    genomic AY701504.1 AAV65577.1
    genomic CH471100.2 EAW93480.1
    genomic L17390.1 AAB60694.1
      AAB60695.1
    genomic L17418.1 AAB60694.1
      AAB60695.1
    genomic M31241.1 AAD15289.1
    genomic X14358.1 CAA32538.1
      CAE82047.1
    genomic X14361.1 CAA32540.1
    mRNA AK298486.1 BAG60695.1
    mRNA AK309342.1 None
    mRNA BC032550.1 None
    mRNA BF900429.1 None
    mRNA BX113709.1 None
    mRNA BX643705.1 None
    mRNA M11569.1 AAA52297.1
    mRNA M11617.1 AAA52298.1
    mRNA M11618.1 AAA52299.1
    mRNA X05309.1 CAA28933.1
    mRNA X14362.1 CAA32541.1
    mRNA Y00816.1 CAA68755.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O76106 GenPept UniProtKB/TrEMBL:O76106
    P17927.3 GenPept UniProtKB/Swiss-Prot:P17927
    Q16521 GenPept UniProtKB/TrEMBL:Q16521
    Q5SBJ5 GenPept UniProtKB/TrEMBL:Q5SBJ5
    Q5SBJ6 GenPept UniProtKB/TrEMBL:Q5SBJ6
    Q5SBJ7 GenPept UniProtKB/TrEMBL:Q5SBJ7
    Q5SBJ8 GenPept UniProtKB/TrEMBL:Q5SBJ8
    Q5SBJ9 GenPept UniProtKB/TrEMBL:Q5SBJ9
    Q5SBK0 GenPept UniProtKB/TrEMBL:Q5SBK0
    Q5SBK1 GenPept UniProtKB/TrEMBL:Q5SBK1
    Q5SBK2 GenPept UniProtKB/TrEMBL:Q5SBK2
    Q5SBK3 GenPept UniProtKB/TrEMBL:Q5SBK3
    Q5SBK4 GenPept UniProtKB/TrEMBL:Q5SBK4
    Q5SBK5 GenPept UniProtKB/TrEMBL:Q5SBK5
    Q5SBK6 GenPept UniProtKB/TrEMBL:Q5SBK6
    Q5SR40 GenPept UniProtKB/TrEMBL:Q5SR40
    Q5SR41 GenPept UniProtKB/TrEMBL:Q5SR41
    Q5SR42 GenPept UniProtKB/TrEMBL:Q5SR42
    Q5SR44 GenPept UniProtKB/TrEMBL:Q5SR44
    Q9HB98 GenPept UniProtKB/TrEMBL:Q9HB98
    Q9HB99 GenPept UniProtKB/TrEMBL:Q9HB99
    Q9HC54 GenPept UniProtKB/TrEMBL:Q9HC54
    Q9HC55 GenPept UniProtKB/TrEMBL:Q9HC55
    Q9UQR7 GenPept UniProtKB/TrEMBL:Q9UQR7

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