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

C5AR1 Gene

protein-coding   GIFtS: 63
GCID: GC19P047813

Complement Component 5a Receptor 1

(Previous name: complement component 5 receptor 1 (C5a ligand))
(Previous symbol: C5R1)
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 5a Receptor 11 2     C5a Anaphylatoxin Chemotactic Receptor 12
C5R11 2 3 5     C5a Anaphylatoxin Receptor2
C5AR2 3 5     C5a Ligand2
C5a-R2 3     Complement Component 5 Receptor 12
Complement Component 5 Receptor 1 (C5a Ligand)1     C5aR3
C5A2     C5a Anaphylatoxin Chemotactic Receptor3
CD882     CD88 Antigen3

External Ids:    HGNC: 13381   Entrez Gene: 7282   Ensembl: ENSG000001974057   OMIM: 1139955   UniProtKB: P217303   

Export aliases for C5AR1 gene to outside databases

Previous GC identifers: GC19P052505 GC19P044237


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

GeneCards Summary for C5AR1 Gene: 
C5AR1 (complement component 5a receptor 1) is a protein-coding gene. Diseases associated with C5AR1 include complement component 5 deficiency, and mast-cell sarcoma, and among its related super-pathways are Immune response Lectin induced complement pathway and GPCR ligand binding. GO annotations related to this gene include complement component C5a binding and C5a anaphylatoxin receptor activity. An important paralog of this gene is LTB4R.

UniProtKB/Swiss-Prot: C5AR1_HUMAN, P21730
Function: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. This receptor stimulates
chemotaxis, granule enzyme release and superoxide anion production

summary for C5AR1 Gene:
The complement system is a biochemical pathway involved in both innate and adaptive immune responses. There
are four main functions of the complement system; lysis of microorganisms, promotion of phagocytosis,
triggering inflammation and immune clearance. There are three pathways that can activate the complement
system; the classical complement pathway (in response to IgG- or IgM-antigen complexes), the alternative
complement pathway (spontaneous activation) and the mannose-binding lectin pathway (in response to lectin
residues on pathogen cell surface membranes). All three pathway generate variants of C3 convertase, which
cleaves C3 into C3a and C3b. C3a and C3b activate a series of further cleavage events that activates the
complement cascade. This leads to immune defence responses such as degranulation of mast cells, increasing
vascular permeability and initiation of the membrane attack pathway. Deregulation of the complement system
would be extremely damaging to the host, so it is tightly regulated by complement control proteins. These
regulatory proteins are found in much higher concentrations that complement proteins themselves and prevent
complement system activation in 'self' tissues. The complement system has been implicated in many autoimmune
disorders, including systemic lupus erythematosus, multiple sclerosis and arthritis, and more recently has
been suggested to have a pathophysiological role in Alzheimer's and other neurodegenerative disorders.

Gene Wiki entry for C5AR1 (C5a receptor) 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C5AR1 gene promoter:
         AhR   CREB   deltaCREB   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC5AR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for C5AR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5AR1


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

Entrez Gene cytogenetic band: 19q13.3-q13.4   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3-q13.4

C5AR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5AR1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P047813:  view genomic region     (about GC identifiers)

Start:
47,793,280 bp from pter      End:
47,825,327 bp from pter
Size:
32,048 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: C5AR1_HUMAN, P21730 (See protein sequence)
Recommended Name: C5a anaphylatoxin chemotactic receptor 1  
Size: 350 amino acids; 39336 Da
Subunit: Interacts with ARRB1 and ARRB2 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein

Explore the universe of human proteins at neXtProt for C5AR1: NX_P21730

Explore proteomics data for C5AR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sulfation plays a critical role in the association of the receptor with C5a, but no significant role in the
    ability of the receptor to transduce a signal and mobilize calcium in response to a small peptide agonist
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21730

  • C5AR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C5AR1 Protein Expression
    REFSEQ proteins: NP_001727.1  
    ENSEMBL proteins: 
     ENSP00000470613   ENSP00000347197  
    Reactome Protein details: P21730
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2007135
    GO:0009986cell surface IEA--
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IDA--

    C5AR1 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
    CNAR: GPCR / Class A : Complement component receptors
    complement: Complement system

    IUPHAR Guide to PHARMACOLOGY protein family classification: C5a1 receptor 
    Complement peptide receptors

    5 InterPro protein domains:
     IPR002234 Anphylx_rcpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000826 Formyl_pep_rcpt
     IPR001274 C5A_anaphtx_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P21730

    ProtoNet protein and cluster: P21730

    2 Blocks protein domains:
    IPB001274 C5A-anaphylatoxin receptor signature
    IPB002234 Anaphylatoxin chemotactic receptor signature


    UniProtKB/Swiss-Prot: C5AR1_HUMAN, P21730
    Similarity: Belongs to the G-protein coupled receptor 1 family


    C5AR1 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: C5AR1_HUMAN, P21730
    Function: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. This receptor stimulates
    chemotaxis, granule enzyme release and superoxide anion production

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001856complement component C5a binding IEA--
    GO:0004878complement component C5a receptor activity IDA--
    GO:0004930G-protein coupled receptor activity ----
    GO:0004944C5a anaphylatoxin receptor activity IDA--
    GO:0004982N-formyl peptide receptor activity IEA--
         
    C5AR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C5AR1:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for C5ar1):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  reproductive system 
     skeleton 

    C5AR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for C5AR1: C5ar1tm1Raw C5ar1tm1Cge

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    Inhib. RNA
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    (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 C5AR1 About   (see all 7)                                                                                              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
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.46
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.37
    Peptide ligand-binding receptors0.60
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q0.46
    Peptide GPCRs0.46
    5Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for C5AR1
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Selected targets of GCR-alpha
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Immune response Lectin Induced complement pathway


    3 GeneGo (Thomson Reuters) Pathways for C5AR1
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C5AR1
        Complement and Coagulation Cascades
    Peptide GPCRs


    5/7        Reactome Pathways for C5AR1 (see all 7)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Signal Transduction
    Signaling by GPCR
    G alpha (i) signalling events


    3         Kegg Pathways  (Kegg details for C5AR1):
        Neuroactive ligand-receptor interaction
    Complement and coagulation cascades
    Staphylococcus aureus infection


    C5AR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C5AR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/150 Interacting proteins for C5AR1 (P217303 ENSP000003471974) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WASP427683, ENSP000003658914I2D: score=1 STRING: ENSP00000365891
    ARRB1P494073, ENSP000003771414I2D: score=1 STRING: ENSP00000377141
    ARRB2P321213, ENSP000002692604I2D: score=1 STRING: ENSP00000269260
    C5P010313, ENSP000002236424I2D: score=3 STRING: ENSP00000223642
    C5AR2Q9P2963, ENSP000002572674I2D: score=1 STRING: ENSP00000257267
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS7649993
    GO:0002430complement receptor mediated signaling pathway ----
    GO:0006915apoptotic process IEA--
    GO:0006935chemotaxis TAS10352266
    GO:0006954inflammatory response IEA--

    C5AR1 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

    C5AR1 for compounds           About GeneDecksing

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

    Compounds for C5AR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Compstatin C3-binding protein, inhibits complement activation [206645-99-0]
    Compstatin control peptideControl peptide for Compstatin (Cat. No. 2585)[301544-78-5]
    NDT 9513727 Potent, selective human C5a receptor antagonist [439571-48-9]

    1 HMDB Compound for C5AR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/17 IUPHAR Ligands for C5AR1 (C5a1 receptor) (see all 17)    About this table 
    LigandTypeActionAffinityPubmed IDs
    CHIPS
    AntagonistAntagonist915153520
    C5a
    AgonistFull agonist8 - 910602324 9881961
    [125I]C5a (human)
    AgonistFull agonist8.74020139
    W54011
    AntagonistAntagonist8.712384495
    AcPhe-Orn-Pro-D-Cha-Trp-Arg
    AntagonistAntagonist7.99719594
    PMX53
    AntagonistAntagonist7.1 - 7.711403208 15044616
    N-methyl-Phe-Lys-Pro-D-Cha-Cha-D-Arg-CO2H
    AgonistFull agonist7.67930622 1732540
    PMX205
    AntagonistAntagonist7.5115044616
    NDT9520492
    AntagonistAntagonist7.516230349
    N-methyl-Phe-Lys-Pro-D-Cha-Trp-D-Arg-CO2H
    AntagonistAntagonist7.27930622

    10/70 Novoseek inferred chemical compound relationships for C5AR1 gene (see all 70)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 97.5 176 1732540 (4), 10508278 (3), 9218605 (3), 7556629 (3) (see all 96)
    fmlp 83.7 114 9036983 (5), 8699129 (5), 17724165 (5), 2159036 (4) (see all 58)
    fmlpl 82 5 1564402 (3), 2161893 (1), 2295813 (1)
    leukotriene b4 72.6 52 12141728 (4), 7722425 (3), 1966131 (3), 8683135 (2) (see all 30)
    n-formylmethionyl-leucylphenylalanine 70.4 15 7722425 (2), 1722562 (1), 8699129 (1), 9358848 (1) (see all 14)
    rantes 50.1 16 9426639 (4), 1281207 (3), 7542307 (3), 9036983 (2) (see all 7)
    calcium 49 62 2159036 (4), 8223566 (3), 1472004 (2), 11342590 (2) (see all 35)
    superoxide 44.1 12 1966131 (2), 2159036 (1), 7722425 (1), 1850304 (1) (see all 8)
    histamine 42.5 23 7513741 (6), 12527821 (3), 11799375 (2), 17389757 (1) (see all 12)
    pertussis 41.9 4 10233875 (1), 16879222 (1), 10706729 (1), 9838061 (1)

    Search CenterWatch for drugs/clinical trials and news about C5AR1

    (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 C5AR1 gene: 
    NM_001736.3  

    Unigene Cluster for C5AR1:

    Complement component 5a receptor 1
    Hs.2161  [show with all ESTs]
    Unigene Representative Sequence: NM_001736
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595501 ENST00000594787 ENST00000355085(uc002pgj.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5AR1
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    Additional mRNA sequence: 

    BC008982.1 BT007358.1 M62505.1 X57250.1 

    3 DOTS entries:

    DT.95263655  DT.100877901  DT.92062932 

    1 AceView cDNA sequence:

    BF901094 

    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

    C5AR1 expression in normal human tissues (normalized intensities)      C5AR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C5AR1 Expression
    About this image


    C5AR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)
             bone marrow-derived macrophages   
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Endothelium (Cardiovascular System)
             Peripheral blood-derived early endothelial progenitor cells
     
     Bone (Muscoskeletal System)
             Bone Marrow

    See C5AR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C5AR1

    SOURCE GeneReport for Unigene cluster: Hs.2161
        SABiosciences Expression via Pathway-Focused PCR Arrays including C5AR1: 
              Innate & Adaptive Immune Responses in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cell Surface Markers in human mouse rat
              Antifungal Response in human mouse rat
              Chemokines & Receptors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5AR1

    (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 C5AR1 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 C5ar11 , 5 complement component 5a receptor 11, 5 73.37(n)1
    68.05(a)1
      7 (8.77 cM)5
    122731  NM_001173550.11  NP_001167021.11 
     162467435 
    chicken
    (Gallus gallus)
    Aves C5AR11 complement component 5a receptor 1 55.09(n)
    41.67(a)
      430484  XM_428039.3  XP_428039.3 
    lizard
    (Anolis carolinensis)
    Reptilia C5AR16
    Uncharacterized protein
    41(a)
    1 → many
    LGf(1670852-1671922)
    zebrafish
    (Danio rerio)
    Actinopterygii c5ar11 C5a anaphylatoxin chemotactic receptor 50.65(n)
    40.97(a)
      100000959  XM_001341022.3  XP_001341058.3 


    ENSEMBL Gene Tree for C5AR1 (if available)
    TreeFam Gene Tree for C5AR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C5AR1 gene
    LTB4R2  LTB4R22  GPR332  FPR32  FPR12  GPR322  GPR1522  FPR22  
    C5AR22  C3AR12  PTGDR22  GPR12  CMKLR12  
    18/23 SIMAP similar genes for C5AR1 using alignment to 2 protein entries:     C5AR1_HUMAN (see all proteins) (see all similar genes):
    CCR5    C5AR2    GPR77    FPR2    GPR1    GPR18
    CMKLR1    FPR1    CCR3    FPR3    FPRL2    GPR33
    CCR1    CCR7    PTGDR2    gpcr    AGTR1    CXCR1

    C5AR1 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

    10/472 SNPs in C5AR1 are shown (see all 472)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995592901,2
    Cuntested147824014(+) AGAGTA/C/TCGTGG 2 S F mis10--------
    VAR_0493784
    ----see VAR_0493782 K N mis40--------
    VAR_0493774
    ----see VAR_0493772 D N mis40--------
    rs172186971,2
    F--44248611(+) CCCCCC/ACACAC 2 -- ut311Minor allele frequency- A:0.27EA 722
    rs1885610331,2
    --47811113(+) ATAGCC/TACGCC 1 -- us2k10--------
    rs1810569361,2
    --47811115(+) AGCCAC/TGCCCC 1 -- us2k10--------
    rs1442037471,2
    C--47811128(+) CGCTCA/CTATTA 1 -- us2k10--------
    rs1860363811,2
    --47811158(+) AGGGGC/TGGAAT 1 -- us2k10--------
    rs1487502331,2
    --47811195(+) GGCCGA/GGCGCA 1 -- us2k10--------
    rs1137505511,2
    C,F--47811198(+) CGGGCA/GCAGTG 1 -- us2k12Minor allele frequency- G:0.00CSA 2

    HapMap Linkage Disequilibrium report for C5AR1 (47793280 - 47825327 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C5AR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912200CNV Loss21882294

    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: 113995    OMIM disorders: --

    20/71 diseases for C5AR1 (see all 71):    About MalaCards
    complement component 5 deficiency    mast-cell sarcoma    leukostasis    complement deficiency
    meningoencephalitis    hypereosinophilic syndrome    multiple sclerosis    cellulitis
    neutropenia    lupus erythematosus    severe congenital neutropenia    adult respiratory distress syndrome
    lupus nephritis    systemic lupus erythematosus    anoxia    arthritis
    nephritis    cholera    choroiditis    eosinophilia

    10 diseases from the University of Copenhagen DISEASES database for C5AR1:
    Adult respiratory distress syndrome     Leukopenia     Urticaria     Hypersensitivity reaction type III disease
    Asthma     Complement deficiency     Hypersensitivity reaction type II disease     Peritonitis
    Arthritis     Leukostasis

    C5AR1 for disorders           About GeneDecksing


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

    10/52 Novoseek inferred disease relationships for C5AR1 gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia basophilic 56.6 4 7957584 (2), 7622471 (1), 10195437 (1)
    inflammation 54.6 37 17965442 (2), 1489124 (1), 7541417 (1), 10706689 (1) (see all 26)
    immune complex diseases 35.8 2 12869020 (1), 10395696 (1)
    necrosis 31.5 22 16499574 (2), 7978476 (2), 1489124 (1), 8391001 (1) (see all 19)
    shock septic 28 4 12225614 (2), 1847994 (1), 10927032 (1)
    sepsis 22.6 44 14676676 (5), 12225614 (4), 12960283 (3), 18848819 (3) (see all 9)
    neutropenia 20.5 6 19285573 (2), 10188960 (1), 1751793 (1), 10927032 (1) (see all 5)
    hypereosinophilic syndrome 18 2 2040692 (1), 7705383 (1)
    intestinal ischemia 17.8 2 10395696 (1), 15159277 (1)
    drusen 13.7 3 16452172 (2)

    Genetic Association Database (GAD): C5AR1
    Human Genome Epidemiology (HuGE) Navigator: C5AR1 (12 documents)

    Export disorders for C5AR1 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 C5AR1 gene, integrated from 9 sources (see all 497):
    (articles sorted by number of sources associating them with C5AR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sulfated tyrosines contribute to the formation of the c5a docking site of the human c5a anaphylatoxin receptor. (PubMed id 11342590)1, 2, 9 Farzan M.... Choe H. (2001)
    2. Identification of the major phosphorylation sites in human C5a anaphylatoxin receptor in vivo. (PubMed id 7642584)1, 2, 9 Giannini E.... Boulay F. (1995)
    3. Mapping of genes for the human C5a receptor (C5AR), human FMLP receptor (FPR), and two FMLP receptor homologue orphan receptors (FPRH1, FPRH2) to chromosome 19. (PubMed id 1612600)1, 3, 9 Bao L.... Gerard C. (1992)
    4. Human chemotaxis receptor genes cluster at 19q13.3-13.4. Characterization of the human C5a receptor gene. (PubMed id 8383526)1, 2, 9 Gerard N.P....Gerard C. (1993)
    5. The chemotactic receptor for human C5a anaphylatoxin. (PubMed id 1847994)1, 2, 9 Gerard N.P. and Gerard C. (1991)
    6. Expression cloning of a receptor for C5a anaphylatoxin on differentiated HL-60 cells. (PubMed id 2007135)1, 2, 9 Boulay F.... Vignais P. (1991)
    7. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    8. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    9. Investigation of C5a receptor gene 450 C/T polymorphi sm in Turkish patients with familial Mediterranean fever. (PubMed id 19657723)1, 4 Erken E....Ozer H.T. (2010)
    10. Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. (PubMed id 20484595)1, 4 Skeie J.M....Mullins R.F. (2010)

    (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: 728 HGNC: 1338 AceView: C5R1 Ensembl:ENSG00000197405 euGenes: HUgn728
    ECgene: C5AR1 Kegg: 728 H-InvDB: C5AR1

    (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 C5AR1 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 C5AR1 gene:
    Search GeneIP for patents involving C5AR1

    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: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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