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

C1R Gene

protein-coding   GIFtS: 66
GCID: GC12M007187

Complement Component 1, R Subcomponent

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(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 1, R Subcomponent1 2
EC 3.4.21.413 8
Complement C1r Subcomponent2
Complement Component 1 Subcomponent R3
EC 3.4.218

External Ids:    HGNC: 12461   Entrez Gene: 7152   Ensembl: ENSG000001594037   OMIM: 6137855   UniProtKB: P007363   

Export aliases for C1R gene to outside databases

Previous GC identifers: GC12M007198 GC12M007376 GC12M007067 GC12M007057 GC12M007058 GC12M007133 GC12M007047


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

GeneCards Summary for C1R Gene: 
C1R (complement component 1, r subcomponent) is a protein-coding gene. Diseases associated with C1R include complement deficiency, and angioedema, and among its related super-pathways are Complement Pathway and Complement and Coagulation Cascades. GO annotations related to this gene include serine-type peptidase activity and calcium ion binding. An important paralog of this gene is PAMR1.

UniProtKB/Swiss-Prot: C1R_HUMAN, P00736
Function: C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the
classical pathway of the complement system

Gene Wiki entry for C1R 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_000012.11  NC_018923.2  NT_009714.17  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1R gene promoter:
         NF-1/L   NF-1   C/EBPbeta   GATA-3   IRF-1   NF-kappaB   GATA-1   GATA-2   Ik-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1R promoter sequence
   Search SABiosciences Chromatin IP Primers for C1R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1R


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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

C1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1R gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M007187:  view genomic region     (about GC identifiers)

Start:
7,187,513 bp from pter      End:
7,245,203 bp from pter
Size:
57,691 bases      Orientation:
minus 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: C1R_HUMAN, P00736 (See protein sequence)
Recommended Name: Complement C1r subcomponent precursor  
Size: 705 amino acids; 80119 Da
Subunit: C1 is a calcium-dependent trimolecular complex of C1q, C1r and C1s in the molar ration of 1:2:2. C1r is a
dimer of identical chains, each of which is activated by cleavage into two chains, A and B, connected by
disulfide bonds
5 PDB 3D structures from and Proteopedia for C1R:
1APQ (3D)        1GPZ (3D)        1MD7 (3D)        1MD8 (3D)        2QY0 (3D)    
Secondary accessions: A6NJQ8 Q68D77 Q8J012

Explore the universe of human proteins at neXtProt for C1R: NX_P00736

Explore proteomics data for C1R at MOPED 

Post-translational modifications:

  • UniProtKB: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00736

  • 4/23 DME Specific Peptides for C1R (P00736) (see all 23)
     DIALLEL  GEVTSPL  VSWGIGC  TGIVSWG 

    C1R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1R Protein Expression
    REFSEQ proteins: NP_001724.3  
    ENSEMBL proteins: 
     ENSP00000474998   ENSP00000473278   ENSP00000444271   ENSP00000438636   ENSP00000438682  
     ENSP00000446356   ENSP00000439223   ENSP00000445285   ENSP00000441601   ENSP00000442946  
     ENSP00000444009   ENSP00000438615  
    Reactome Protein details: P00736
    Human Recombinant Protein Products for C1R: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for C1R (Complement Component C1r)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for C1R
    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for C1R
    Novus Biologicals C1R Proteins
    Novus Biologicals C1R Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--

    C1R for ontologies           About GeneDecksing



    C1R Antibody Products: 
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    Abcam antibodies for C1R
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    5/11 InterPro protein domains (see all 11):
     IPR000859 CUB_dom
     IPR024175 Pept_S1A_C1r/C1S/mannan-bd
     IPR001314 Peptidase_S1A
     IPR001881 EGF-like_Ca-bd
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry P00736

    ProtoNet protein and cluster: P00736

    5/6 Blocks protein domains (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: C1R_HUMAN, P00736
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    C1R 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: C1R_HUMAN, P00736
    Function: C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the
    classical pathway of the complement system
    Catalytic activity: Selective cleavage of Lys(or Arg)- -Ile bond in complement subcomponent C1s to form the active
    form of C1s (EC 3.4.21.42)

         Genatlas biochemistry entry for C1R:
    complement component 1,r subcomponent,83kDa,tetramerizing C1s (2C1r,2C1s) possessing a proteinase activity to
    C1s,classical pathway of C3 activation,see C1Q@

         Enzyme Numbers (IUBMB): EC 3.4.21.411 2 EC 3.4.212

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity EXP--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12788922
    GO:0008236serine-type peptidase activity TAS2834284
         
    C1R for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C1R 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C1R

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1R 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1R 

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C1R:
    hsa-miR-140-5p hsa-miR-544 hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidC1R 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: C1R (NM_001733)
    Sino Biological Human cDNA Clone for C1R
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1R


    (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 C1R About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Classical Complement Pathway
    Classical Complement Pathway0.75
    Complement Activation, Classical Pathway0.68
    Complement Pathway0.75
    Complement Activation Pathways0.31
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Immune response Lectin induced complement pathway
    Immune response Classic complement pathway0.53
    Immune response Classical complement pathway0.52
    4Classical antibody-mediated complement activation
    Classical antibody-mediated complement activation0.88
    Initial triggering of complement0.86
    Creation of C4 and C2 activators0.88
    Complement cascade0.76
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for C1R
        Immune response Classic complement pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C1R
        Classical Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for C1R
        Immune response Classical complement pathway

    2 BioSystems Pathways for C1R
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    2 Sino Biological Pathways for C1R 
        Notch Signaling Pathway
    Complement Activation Pathways

    5/6        Reactome Pathways for C1R (see all 6)
        Classical antibody-mediated complement activation
    Creation of C4 and C2 activators
    Complement cascade
    Immune System
    Initial triggering of complement


    5         Kegg Pathways  (Kegg details for C1R):
        Phagosome
    Complement and coagulation cascades
    Pertussis
    Staphylococcus aureus infection
    Systemic lupus erythematosus


    C1R for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C1R

    5/7 Interacting proteins for C1R (P007361, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1SP098711, 3EBI-3926504,EBI-2810045 I2D: score=3 
    C1QAP027453I2D: score=2 
    GRB2P629933I2D: score=2 
    SERPING1P051553I2D: score=2 
    C1QBP027463I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006955immune response TAS737019
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway TAS--
    GO:0045087innate immune response TAS--

    C1R 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

    C1R for compounds           About GeneDecksing

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

    Browse Tocris compounds for C1R

    1 HMDB Compound for C1R    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/19 DrugBank Compounds for C1R (see all 19)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Abciximab7E3 (see all 4)143653-53-6target--17016423 17139284
    Adalimumab-- 331731-18-1target--17016423 17139284
    Alefacept-- 222535-22-0target--17139284 17016423
    Alemtuzumab-- 216503-57-0target--17016423 17139284
    Basiliximabchimeric mouse-human antiCD25 (see all 2)152923-56-3target--17016423 17139284
    BevacizumabantiVEGF (see all 3)216974-75-3target--17139284 17016423
    CetuximabAnti EGFR (see all 2)205923-56-4target--17139284 17016423
    DaclizumabAnti-IL-2 (see all 3)152923-56-3target--17139284 17016423
    Efalizumabanti alphaL integrin (see all 4)214745-43-4target--17139284 17016423
    EtanerceptCD120b (see all 7)185243-69-0target--17139284 17016423

    2 Novoseek inferred chemical compound relationships for C1R gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 66.7 27 8676886 (3), 8042996 (2), 9777414 (2), 10408360 (1) (see all 20)
    calcium 0 4 8172567 (1), 10878362 (1), 8042996 (1), 12788922 (1)

    Search CenterWatch for drugs/clinical trials and news about C1R

    (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 C1R gene: 
    NM_001733.4  

    Unigene Cluster for C1R:

    Complement component 1, r subcomponent
    Hs.524224  [show with all ESTs]
    Unigene Representative Sequence: AK094009
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602480 ENST00000602286 ENST00000602298 ENST00000536053 ENST00000540394(uc021quh.1)
    ENST00000535233(uc010sga.1) ENST00000542220(uc010sfy.2) ENST00000543362
    ENST00000540610 ENST00000543835 ENST00000541042 ENST00000543851 ENST00000540242
    ENST00000538050 ENST00000545466 ENST00000536092 ENST00000542285

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C1R:
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK094009.1 AK222481.1 AK222491.1 AK291313.1 AK298445.1 AK303750.1 BC035220.1 M14058.1 
    X04701.1 

    21 DOTS entries:

    DT.97780531  DT.95238888  DT.451885  DT.100044781  DT.100887473  DT.121109704  DT.95092977  DT.121109747 
    DT.418283  DT.95238882  DT.100044778  DT.121109702  DT.121109764  DT.100806567  DT.100887469  DT.121109769 
    DT.121109828  DT.121109941  DT.95238884  DT.100887470  DT.121109895 

    24/314 AceView cDNA sequences (see all 314):

    CA389125 F27038 BG057949 BX336966 CK819092 BU730690 AA622474 BU071037 
    CD612693 CK819093 BM971757 BU628167 BU947629 BM974339 CA417727 BM663005 
    BQ182008 CA441728 BM990901 BM704627 BQ003761 BM875510 T28680 BX358507 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for C1R (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b · 7c ^ 8 ^ 9a ·
    SP1:                    -     -                 -                             -                                                                                 
    SP2:                                            -                             -                                                                                 
    SP3:                    -     -                 -                       -     -     -                                                                           
    SP4:                    -     -                 -                             -     -     -                                                                     
    SP5:                    -     -                 -     -     -                 -                                                                                 

    ExUns: 9b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for C1R

    (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

    C1R expression in normal human tissues (normalized intensities)      C1R embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTGCTG
    C1R Expression
    About this image


    C1R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Fibroblast
             Human Prostate Fibroblasts (HPrF)   
     
     Mesenchymal Stem Cells
             Human Mesenchymal Stem Cells (hMSC)   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Mature Mesothelial Cells Hepatic Mesenchyme
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Ovary (Reproductive System)
             Human Ovarian Fibroblasts (HOF)   

    See C1R Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1R

    SOURCE GeneReport for Unigene cluster: Hs.524224
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    (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 chordates.

    Orthologs for C1R gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1ra1 , 5 complement component 1, r subcomponent A1, 5 83.62(n)1
    81.25(a)1
      6 (59.16 cM)5
    509091  NM_023143.31  NP_075632.31 
     1245126325 
    chicken
    (Gallus gallus)
    Aves C1R1 complement component 1, r subcomponent 65.75(n)
    62.63(a)
      418295  XM_416518.3  XP_416518.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    55(a)
    1 → many
    GL343218.1(93834-117480)
    zebrafish
    (Danio rerio)
    Actinopterygii C1R6
    complement component 1, r subcomponent
    38(a)
    1 → many
    16(34168148-34180684)


    ENSEMBL Gene Tree for C1R (if available)
    TreeFam Gene Tree for C1R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1R gene
    PAMR12  PROZ2  C1S2  C1RL2  F92  F102  MASP12  F22  
    HPR2  F72  PROC2  HP2  MASP22  
    18/33 SIMAP similar genes for C1R using alignment to 13 protein entries:     C1R_HUMAN (see all proteins) (see all similar genes):
    DKFZp586F0824    MEGF6    C1RL    DKFZp686O1553    MASP1    F2
    PROS1    PRSS8    PROC1    HPR    HP    MASP2
    C1S    PROC    F9    CUBN    KLK2    TLL1

    C1R for paralogs           About GeneDecksing



    (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: C1R_HUMAN, P00736
    Polymorphism: Complement component C1r deficiency [MIM:216950] leads to the failure of the classical complement
    system activation pathway (C1 deficiency). Individuals with C1 deficiency are highly susceptible to infections by
    microorganisms and have greater risk in developing autoimmune diseases such as systemic lupus erythematosus (SLE)


    10/251 SNPs in C1R are shown (see all 251)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0186674
    ----see VAR_0186672 Y H mis40--------
    VAR_0186684
    ----see VAR_0186682 H Y mis40--------
    VAR_0161034
    ----see VAR_0161032 S L mis40--------
    rs1462506251,2
    --7118505(+) TCAGGG/TGGCTG 1 -- int10--------
    rs1383130671,2
    --7118527(+) TCAGTG/TGAACC 1 -- int10--------
    rs1915393531,2
    --7118626(+) AAAGCG/TGTTAT 1 -- int10--------
    rs1495986411,2
    C--7118663(+) CAGCAC/TTTTCT 1 -- int10--------
    rs3746147591,2
    C--7119109(+) TTTTT-/TTTTTT 1 -- ut310--------
    rs1487185341,2
    C--7119172(+) TCCTCC/TTCCAT 2 E syn10--------
    rs1424435271,2
    C--7119178(+) TCCATC/TTCTTT 2 E syn10--------

    HapMap Linkage Disequilibrium report for C1R (7187513 - 7245203 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C1R: --

    Human Gene Mutation Database (HGMD): C1R
    SABiosciences Cancer Mutation PCR Assays
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    (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: 613785    OMIM disorders: --

    18 diseases for C1R:    About MalaCards
    complement deficiency    angioedema    cerebral amyloid angiopathy    pertussis
    urticaria    contact dermatitis    purpura    lupus erythematosus
    alzheimer's disease    systemic lupus erythematosus    dermatitis    cerebritis
    multiple sclerosis    rheumatoid arthritis    arthritis    endotheliitis
    neuronitis    leukemia

    4 diseases from the University of Copenhagen DISEASES database for C1R:
    Urticaria     Lupus erythematosus     Complement deficiency     Connective tissue disease

    C1R for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for C1R gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angioedema 40.5 1 9218620 (1)
    lupus erythematosus systemic 17.1 2 9218620 (1), 7939409 (1)
    alzheimers disease 10.9 1 10079271 (1)

    Genatlas disease: C1R
    lupus systemic-like syndrome

    Genetic Association Database (GAD): C1R
    Human Genome Epidemiology (HuGE) Navigator: C1R (2 documents)

    Export disorders for C1R 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 C1R gene, integrated from 9 sources (see all 103):
    (articles sorted by number of sources associating them with C1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity. (PubMed id 12914573)1, 2, 9 Nakagawa M.... Umetsu K. (2003)
    2. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease. (PubMed id 12499050)1, 4 Rosenmann H....Abramsky O. (2003)
    5. Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease. (PubMed id 12555245)1, 4 Luedecking-Zimmer E....Kamboh M.I. (2003)
    6. Monomeric structures of the zymogen and active catalytic domain of complement protease c1r: further insights into the c1 activation mechanism. (PubMed id 12429092)1, 2 Budayova-Spano M.... Gaboriaud C. (2002)
    7. The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex. (PubMed id 11823416)1, 2 Budayova-Spano M.... Gaboriaud C. (2002)
    8. Solution structure of the epidermal growth factor (EGF)-like module of human complement protease C1r, an atypical member of the EGF family. (PubMed id 9477945)1, 2 Bersch B.... Arlaud G.J. (1998)
    9. Identification of a cryptic protein kinase CK2 phosphorylation site in human complement protease Clr, and its use to probe intramolecular interaction. (PubMed id 8635594)1, 2 Pelloux S....Arlaud G.J. (1996)
    10. A common amino acid polymorphism in complement component C1R. (PubMed id 8162045)1, 2 Nothen M.M. and Dewald G. (1994)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 715 HGNC: 1246 AceView: C1R Ensembl:ENSG00000159403 euGenes: HUgn715
    ECgene: C1R Kegg: 715 H-InvDB: C1R

    (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 C1R Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C1R gene:
    Search GeneIP for patents involving C1R

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



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