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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CR1 Gene

protein-coding   GIFtS: 65
GCID: GC01P207669

Complement Component (3b/4b) Receptor 1 (Knops Blood Group)

(Previous names: complement component (3b/4b) receptor 1, including Knops...)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Complement Component (3b/4b) Receptor 1 (Knops Blood Group)1 2     CD352
C3BR2 3 5     KN2
C3b/C4b Receptor2 3     C3-Binding Protein2
CD35 Antigen2 3     Complement Receptor Type 12
Complement Component (3b/4b) Receptor 1, Including Knops Blood Group
System1
     Knops Blood Group Antigen2
C4BR2     

External Ids:    HGNC: 23341   Entrez Gene: 13782   Ensembl: ENSG000002037107   OMIM: 1206205   UniProtKB: P179273   

Export aliases for CR1 gene to outside databases

Previous GC identifers: GC01P206329 GC01P203379 GC01P204312 GC01P204753 GC01P204057 GC01P205736 GC01P178362


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CR1 Gene:
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)

GeneCards Summary for CR1 Gene: 
CR1 (complement component (3b/4b) receptor 1 (Knops blood group)) is a protein-coding gene. Diseases associated with CR1 include malaria, and glomerulonephritis, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement and Coagulation Cascades. GO annotations related to this gene include complement component C3b binding and complement component C4b receptor activity. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927
Function: Mediates cellular binding of particles and immune complexes that have activated complement

Gene Wiki entry for CR1 (Complement receptor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CR1 gene promoter:
         GR   c-Rel   GR-beta   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32

CR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CR1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P207669:  view genomic region     (about GC identifiers)

Start:
207,669,473 bp from pter      End:
207,815,110 bp from pter
Size:
145,638 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CR1_HUMAN, P17927 (See protein sequence)
Recommended Name: Complement receptor type 1 precursor  
Size: 2039 amino acids; 223663 Da
Subunit: Monomer
Subcellular location: Membrane; Single-pass type I membrane protein
5 PDB 3D structures from and Proteopedia for CR1:
1GKG (3D)        1GKN (3D)        1GOP (3D)        1PPQ (3D)        2Q7Z (3D)    
Secondary accessions: Q16744 Q16745 Q5SR43 Q5SR45 Q9UQV2

Explore the universe of human proteins at neXtProt for CR1: NX_P17927

Explore proteomics data for CR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17927

  • CR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CR1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000564.2  NP_000642.3  

    ENSEMBL proteins: 
     ENSP00000356019   ENSP00000356018   ENSP00000356020   ENSP00000383744   ENSP00000436139  
     ENSP00000356016   ENSP00000434718  
    Reactome Protein details: P17927
    Human Recombinant Protein Products for CR1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA6910481
    GO:0009986cell surface IDA2972794

    CR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    bloodgroup: Blood group antigens
    complement: Complement system

    1 InterPro protein domain:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry P17927

    ProtoNet protein and cluster: P17927

    1 Blocks protein domain: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: CR1_HUMAN, P17927
    Similarity: Belongs to the receptors of complement activation (RCA) family
    Similarity: Contains 30 Sushi (CCP/SCR) domains


    CR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CR1_HUMAN, P17927
    Function: Mediates cellular binding of particles and immune complexes that have activated complement

         Genatlas biochemistry entry for CR1:
    complement component (3b/4b) receptor 1 (see RCA@)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001851complement component C3b binding IDA2972794
    GO:0001855complement component C4b binding IDA2972794
    GO:0001861complement component C4b receptor activity IDA2972794
    GO:0004877complement component C3b receptor activity IDA2972794
         
    CR1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CR1 
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CR1:
    hsa-miR-28-3p hsa-miR-3140-3p hsa-miR-653 hsa-miR-3611 hsa-miR-1267 hsa-miR-578 hsa-miR-3662 hsa-miR-518f*
    SwitchGear 3'UTR luciferase reporter plasmidCR1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CR1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Alternative complement pathway0.56
    Immune response Classical complement pathway0.52
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.50
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Classical antibody-mediated complement activation
    Complement cascade0.76
    5Leishmaniasis
    Leishmaniasis0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CR1
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CR1
        Phagocytosis of Microbes

    3 GeneGo (Thomson Reuters) Pathways for CR1
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for CR1
        Complement and Coagulation Cascades

    4        Reactome Pathways for CR1
        Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


    5/6         Kegg Pathways  (Kegg details for CR1) (see all 6):
        Complement and coagulation cascades
    Hematopoietic cell lineage
    Legionellosis
    Leishmaniasis
    Malaria


    CR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/12 Interacting proteins for CR1 (P179273 ENSP000003560164) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C4AP0C0L43, ENSP000003966884I2D: score=1 STRING: ENSP00000396688
    ENSG00000206340P0C0L43I2D: score=1 
    ENSG00000227746P0C0L43I2D: score=1 
    C3P010243, ENSP000002459074I2D: score=2 STRING: ENSP00000245907
    CD55P081743, ENSP000003163334I2D: score=2 STRING: ENSP00000316333
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006958complement activation, classical pathway IEA--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--
    GO:0045957negative regulation of complement activation, alternative pathway IDA10531307
    GO:0045959negative regulation of complement activation, classical pathway IDA10531307

    CR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CR1

    10/41 Novoseek inferred chemical compound relationships for CR1 gene (see all 41)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tp 10 88.7 13 17081086 (2), 16498508 (1), 14691437 (1), 17336690 (1) (see all 12)
    fmlp 65.7 44 2141826 (4), 1826092 (4), 8656040 (3), 9313830 (3) (see all 17)
    hind iii 54 26 12486610 (4), 1671871 (4), 15578041 (2), 9614933 (2) (see all 7)
    cr2+ 53 1 7957570 (1)
    n-formylmethionyl-leucylphenylalanine 48.9 10 10213273 (1), 8894710 (1), 19176760 (1), 14723618 (1)
    anaphylatoxin 46.1 5 11414360 (1), 8765013 (1)
    zymosan 44.9 1 1330163 (1)
    mycophenolate sodium 35.8 1 15701440 (1)
    mannose 14.1 5 1593222 (1), 8144972 (1), 8969271 (1), 12626795 (1)
    polysaccharide 10.7 3 15388259 (1), 8811881 (1)

    Search CenterWatch for drugs/clinical trials and news about CR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CR1 gene (2 alternative transcripts): 
    NM_000573.3  NM_000651.4  

    Unigene Cluster for CR1:

    Complement component (3b/4b) receptor 1 (Knops blood group)
    Hs.334019  [show with all ESTs]
    Unigene Representative Sequence: NM_000651
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367050(uc009xcj.1) ENST00000367052 ENST00000367051 ENST00000367053(uc009xck.1 uc001hfy.3 uc021pij.1)
    ENST00000400960 ENST00000530487(uc010psg.1) ENST00000534202 ENST00000367049(uc009xcl.1 uc001hfx.3)
    ENST00000434033 ENST00000450439 ENST00000436595 ENST00000529814
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CR1:
    hsa-miR-28-3p hsa-miR-3140-3p hsa-miR-653 hsa-miR-3611 hsa-miR-1267 hsa-miR-578 hsa-miR-3662 hsa-miR-518f*
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    Additional mRNA sequence: 

    AK298486.1 AK309342.1 BC032550.1 X05309.1 X14362.1 Y00816.1 

    5 DOTS entries:

    DT.452445  DT.86852963  DT.101982006  DT.95368968  DT.75171528 

    24/30 AceView cDNA sequences (see all 30):

    BX094042 T66824 AI240881 AY114160 M11617 BE552138 BU662944 AI735459 
    T66823 BU662562 T27695 AW609089 BF374618 AW809858 BF240184 AW293797 
    H73873 R01561 BE842195 R00897 BE842236 AW387982 AW810035 AW387993 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CR1 expression in normal human tissues (normalized intensities)      CR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACCTCCA
    CR1 Expression
    About this image


    CR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Enriched erythrocyte-like cells ( Generation and expansion of erythroid cells )
             neutrophils   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             LYMPH NODE   
     
     Kidney (Urinary System)
             Parietal epithelial cells (PEC)
     
     Spleen (Hematopoietic System)

    See CR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CR1

    SOURCE GeneReport for Unigene cluster: Hs.334019

    UniProtKB/Swiss-Prot: CR1_HUMAN, P17927
    Tissue specificity: Present on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic
    cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CR1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CR1L6
    --
    (see all 3)
    --
    31(a)
    24(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    26(2599568-2605277)
    26(2614391-2618174)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    31(a)
    15(a)
    1 ↔ many
    possible ortholog
    GL344121.1(5670-32340)
    GL343228.1(2176397-2388531)
    zebrafish
    (Danio rerio)
    Actinopterygii rca2.26
    rca2.16
    (see all 3)
    regulator of complement activation group 2 gene 1
    (see all 3)
    25(a)
    21(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    23(26413284-26415932)
    23(26381820-26407620)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101863 transmembrane receptor 26(a)   37E5   --
            Species with no ortholog for CR1

    ENSEMBL Gene Tree for CR1 (if available)
    TreeFam Gene Tree for CR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CR1 gene
    CSMD12  CFHR52  CFHR42  F13B2  CFHR22  CD462  CD552  SELP2  
    C4BPA2  CR22  CFH2  CSMD32  CR1L2  SELE2  CSMD22  APOH2  
    CFHR32  CFHR12  
    5 SIMAP similar genes for CR1 using alignment to 21 protein entries:     CR1_HUMAN (see all proteins):
    CR1L    cd21    CR2    CD55    CFHR5

    CR1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CR1
    PGOHUM00000245187 PGOHUM00000245190


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CR1_HUMAN, P17927
    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


    10/17444 SNPs in CR1 are shown (see all 17444)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0138264
    ----see VAR_0138262 H D mis40--------
    VAR_0138204
    ----see VAR_0138202 T I mis40--------
    rs1152570071,2
    F--207667495(+) GAAATC/AACTGA 2 -- us2k11Minor allele frequency- A:0.02NA 120
    rs120783291,2
    C,F,A,H--207667497(+) aatcaC/Ttgaga 2 -- us2k15Minor allele frequency- T:0.05NS EA WA 386
    rs1431752631,2
    C--207667502(+) CTGAG-/AGGTTG 2 -- us2k10--------
    rs1881705171,2
    --207667520(+) CAAGTA/CTCCGA 2 -- us2k10--------
    rs1480734351,2
    --207667523(+) GTCTCC/TGAGCA 2 -- us2k10--------
    rs761245271,2
    C,F--207667549(+) GAGTCA/GGAGGA 2 -- us2k12Minor allele frequency- G:0.06WA NA 238
    rs1434095651,2
    C--207667577(+) ACAGGC/TAGAGA 2 -- us2k10--------
    rs741510131,2
    C,F--207667603(+) GGAAGG/TCCAGG 2 -- us2k12Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for CR1 (207669473 - 207815110 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for CR1 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv94e199CNV Deletion23128226
    esv2722117CNV Deletion23290073
    nsv821188CNV Deletion20802225
    esv2675458CNV Deletion23128226
    esv2722106CNV Deletion23290073
    nsv471426CNV Duplication19718026
    nsv436034CNV Insertion17901297
    dgv5n47CNV Loss21111241
    nsv4232CNV Loss18451855
    dgv6n47CNV Loss21111241


    Human Gene Mutation Database (HGMD): CR1

    Locus Specific Mutation Databases (LSDB): CR1
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120620   
    OMIM disorders: 607486  611162  
    20/97 diseases for CR1 (see all 97):    About MalaCards
    malaria    glomerulonephritis    sarcoidosis    diffuse glomerulonephritis
    malaria, severe, resistance to    complement component receptor 1    complement factor h deficiency    smallpox
    malaria, resistance to    viral pneumonia    afibrinogenemia    congenital afibrinogenemia
    follicular dendritic cell sarcoma    dendritic cell sarcoma    arthus reaction    follicular dendritic cell tumor
    guillain-barre syndrome    histiocytic sarcoma    mycetoma    inflammatory myofibroblastic tumor

    6 diseases from the University of Copenhagen DISEASES database for CR1:
    Leukemia     Systemic lupus erythematosus     Nephritis     Malaria
    Complement deficiency     Alzheimer's disease

    CR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/97 Novoseek inferred disease relationships for CR1 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 59.9 61 15529364 (2), 16133175 (2), 1833542 (2), 1352746 (2) (see all 33)
    proliferative diffuse glomerulonephritis 49.4 3 8809140 (1), 10787010 (1)
    malaria falciparum 49.1 13 19480840 (3), 11425154 (2), 16277654 (1), 18954261 (1) (see all 6)
    afibrinogenemia 48.5 1 10358211 (1)
    lupus nephritis 46.5 9 1821024 (3), 11135068 (3), 8809140 (1)
    malaria cerebral 41.9 6 18954261 (4), 15578041 (1)
    malaria 38 41 14694201 (4), 12486610 (3), 18954261 (3), 12445729 (2) (see all 18)
    anemia severe 38 1 10666228 (1)
    hemolysis 34.3 5 15334181 (2), 19367713 (1), 1828610 (1)
    anemia hemolytic 30.6 5 10343158 (1), 7529808 (1), 10640768 (1), 10698335 (1)

    Genatlas disease: CR1
    lupus systemic syndrome

    Genetic Association Database (GAD): CR1
    Human Genome Epidemiology (HuGE) Navigator: CR1 (52 documents)

    Export disorders for CR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CR1 gene, integrated from 9 sources (see all 599):
    (articles sorted by number of sources associating them with CR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria. (PubMed id 14694201)1, 2, 4, 9 Cockburn I.A....Rowe J.A. (2004)
    2. Association of complement receptor 1 (CR1, CD35, C3b/C4b receptor) density polymorphism with glomerulonephritis in Indian subjects. (PubMed id 15072851)1, 4, 9 Katyal M....Das N. (2004)
    3. Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis. (PubMed id 16133175)1, 4, 9 Nath S.K....Lee Y.H. (2005)
    4. Genetic and structural polymorphism of complement receptor 1 in normal Indian subjects. (PubMed id 14556965)1, 4, 9 Katyal M....Das N. (2003)
    5. CR1 levels and gene polymorphisms exhibit differentia l association with falciparum malaria in regions of varying disease endemicity. (PubMed id 19480840)1, 4, 9 Sinha S....Habib S. (2009)
    6. Quantitative polymorphism of complement receptor type 1 (CR1) in patients undergoing haemodialysis. (PubMed id 15069174)1, 4, 9 Tamano M....Tomino Y. (2004)
    7. Structure of the C3b binding site of CR1 (CD35), the immune adherence receptor. (PubMed id 11955431)1, 2, 9 Smith B.O.... Barlow P.N. (2002)
    8. The C3b/C4b receptor is recognized by the Knops, McCoy, Swain-langley, and York blood group antisera. (PubMed id 1708809)1, 3, 9 Moulds J.M....Atkinson J.P. (1991)
    9. A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria. (PubMed id 18954261)1, 4, 9 Teeranaipong P....Tokunaga K. (2008)
    10. A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa. (PubMed id 15578041)1, 4, 9 Thomas B.N....Moulds J.M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1378 HGNC: 2334 AceView: CR1L Ensembl:ENSG00000203710 euGenes: HUgn1378
    ECgene: CR1 Kegg: 1378 H-InvDB: CR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CR1 Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=knops

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CR1 gene:
    Search GeneIP for patents involving CR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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