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    CR1 complement C3b/C4b receptor 1 (Knops blood group) [ Homo sapiens (human) ]

    Gene ID: 1378, updated on 13-Mar-2020

    Summary

    Official Symbol
    CR1provided by HGNC
    Official Full Name
    complement C3b/C4b receptor 1 (Knops blood group)provided by HGNC
    Primary source
    HGNC:HGNC:2334
    See related
    Ensembl:ENSG00000203710 MIM:120620
    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]
    Expression
    Biased expression in appendix (RPKM 18.3), spleen (RPKM 14.7) and 10 other tissues See more
    Orthologs

    Genomic context

    See CR1 in Genome Data Viewer
    Location:
    1q32.2
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (207496152..207641765)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207669473..207815110)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372880 Neighboring gene complement C3d receptor 2 Neighboring gene CD46 molecule pseudogene 1 Neighboring gene complement C3b/C4b receptor 1 like Neighboring gene cell division cycle associated 4 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    KNOPS BLOOD GROUP SYSTEM
    MedGen: C1292327 OMIM: 607486 GeneReviews: Not available
    Compare labs
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    NHGRI GWA Catalog
    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of complement component receptor 1 (CR1) in human B cells PubMed
    Tat tat HIV-1 Tat downregulates the expression of complement component (3b/4b) receptor 1 (CR1; CD35) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 
    virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    complement receptor type 1
    Names
    C3-binding protein
    C3b/C4b receptor
    CD35 antigen
    Knops blood group antigen
    complement component (3b/4b) receptor 1 (Knops blood group)
    complement 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
      5030..150638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000573.4NP_000564.2  complement receptor type 1 isoform F precursor

      See identical proteins and their annotated locations for NP_000564.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (F, also referred to as A) is the most common transcript. It lacks several alternate exons, compared to variant S, but maintains the reading frame. The resulting protein (F, also referred to as isoform CR1-A or CR1*1) is shorter than isoform S.
      Source sequence(s)
      AL137789, AL691452, BF900429, BX113709, BX643705, Y00816
      Consensus CDS
      CCDS44309.1
      UniProtKB/Swiss-Prot
      P17927
      Related
      ENSP00000383744.2, ENST00000400960.7
      Conserved Domains (4) summary
      cd00033
      Location:11971253
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:4399
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:52295
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:15911646
      Sushi; Sushi repeat (SCR repeat)
    2. NM_000651.6NP_000642.3  complement receptor type 1 isoform S precursor

      See identical proteins and their annotated locations for NP_000642.3

      Status: REVIEWED

      Source sequence(s)
      AL137789, AL691452
      Consensus CDS
      CCDS44308.1
      UniProtKB/Swiss-Prot
      P17927
      UniProtKB/TrEMBL
      E9PDY4
      Related
      ENSP00000356016.4, ENST00000367049.8
      Conserved Domains (4) summary
      cd00033
      Location:16471703
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:4399
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:52295
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:20412096
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      207496152..207641765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509205.1XP_011507507.1  complement receptor type 1 isoform X1

      Conserved Domains (4) summary
      cd00033
      Location:16521708
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:48104
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:57300
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:20462101
      Sushi; Sushi repeat (SCR repeat)
    2. XM_006711166.2XP_006711229.1  complement receptor type 1 isoform X2

      Conserved Domains (4) summary
      cd00033
      Location:16521708
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:48104
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:57300
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:20462101
      Sushi; Sushi repeat (SCR repeat)
    3. XM_024453287.1XP_024309055.1  complement receptor type 1 isoform X3

      Related
      ENSP00000356019.1, ENST00000367052.6
      Conserved Domains (2) summary
      cd00033
      Location:16551711
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cl27761
      Location:57300
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
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