C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016] See more...

Aliases for C3AR1 Gene

Aliases for C3AR1 Gene

  • Complement C3a Receptor 1 2 3 5
  • AZ3B 2 3 4
  • C3AR 2 3 4
  • C3a Anaphylatoxin Chemotactic Receptor 3 4
  • Complement Component 3a Receptor 1 2 3
  • HNFAG09 3 4
  • Complement Component 3 Receptor 1 3
  • C3AR1 5
  • C3a-R 4
  • C3R1 4

External Ids for C3AR1 Gene

Previous GeneCards Identifiers for C3AR1 Gene

  • GC12M007906
  • GC12M008358
  • GC12M008111
  • GC12M008102
  • GC12M008210
  • GC12M008022

Summaries for C3AR1 Gene

Entrez Gene Summary for C3AR1 Gene

  • C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]

GeneCards Summary for C3AR1 Gene

C3AR1 (Complement C3a Receptor 1) is a Protein Coding gene. Diseases associated with C3AR1 include Hemolytic Uremic Syndrome, Atypical 1 and Complement Component 3 Deficiency. Among its related pathways are Complement and coagulation cascades and A-beta Pathways: Uptake and Degradation. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and complement component C3a receptor activity. An important paralog of this gene is C5AR1.

UniProtKB/Swiss-Prot Summary for C3AR1 Gene

  • Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.

Gene Wiki entry for C3AR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C3AR1 Gene

Genomics for C3AR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C3AR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J008063 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 261.9 +1.1 1126 4.1 ZNF592 TAF9B GABPA MAFF NKRF ELF1 ZNF316 JUND NFE2 SKIL C3AR1 NECAP1 HSALNG0089042 FOXJ2
GH12J008057 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 73 +8.3 8258 0.2 CEBPB EP300 GABPA POLR2A ATF4 HLF ATF3 FOS CEBPG C3AR1 FOXJ2 HSALNG0089042
GH12J008047 Enhancer 0.6 dbSUPER 72.2 +14.7 14700 8.6 MYC NFIC CTCF MAX POLR2A NFIB L3MBTL2 ARID1B SPI1 MEF2D HSALNG0089042 C3AR1 FOXJ2
GH12J008031 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 +32.4 32398 4.7 SP1 MYC ZNF600 NCOR1 IKZF1 ZNF580 ZNF10 POLR2A ZIC2 YY1 FOXJ2 HSALNG0089041 MN309534 C3AR1 NECAP1 piR-50437-101
GH12J008038 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 13.5 +27.7 27697 1.4 ZNF600 ZNF580 ZNF10 ZIC2 ZNF217 SIN3A SP2 ZNF843 ZBTB48 TAF1 piR-50437-101 C3AR1 FOXJ2 MN309534
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C3AR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C3AR1

Top Transcription factor binding sites by QIAGEN in the C3AR1 gene promoter:
  • AML1a
  • AP-2gamma
  • Bach1
  • Cart-1
  • Elk-1
  • FOXO4
  • Pax-2
  • Pax-2a
  • Pax-4a
  • Pbx1a

Genomic Locations for C3AR1 Gene

Latest Assembly
chr12:8,056,844-8,066,359
(GRCh38/hg38)
Size:
9,516 bases
Orientation:
Minus strand

Previous Assembly
chr12:8,209,440-8,218,955
(GRCh37/hg19 by Entrez Gene)
Size:
9,516 bases
Orientation:
Minus strand

chr12:8,210,898-8,219,067
(GRCh37/hg19 by Ensembl)
Size:
8,170 bases
Orientation:
Minus strand

Genomic View for C3AR1 Gene

Genes around C3AR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3AR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3AR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3AR1 Gene

Proteins for C3AR1 Gene

  • Protein details for C3AR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16581-C3AR_HUMAN
    Recommended name:
    C3a anaphylatoxin chemotactic receptor
    Protein Accession:
    Q16581
    Secondary Accessions:
    • O43771
    • Q92868

    Protein attributes for C3AR1 Gene

    Size:
    482 amino acids
    Molecular mass:
    53864 Da
    Quaternary structure:
    • Interacts with VGF-derived peptide TLQP-21 (By similarity).

neXtProt entry for C3AR1 Gene

Post-translational modifications for C3AR1 Gene

  • Among the sulfation sites Tyr-174 is essential for binding of C3a anaphylatoxin.
  • O-glycosylated.
  • Glycosylation at Asn9, Asn194, and Ser266
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • C3AR_HUMAN (811)

Other Protein References for C3AR1 Gene

No data available for DME Specific Peptides for C3AR1 Gene

Domains & Families for C3AR1 Gene

Gene Families for C3AR1 Gene

Protein Domains for C3AR1 Gene

InterPro:
Blocks:
  • Anaphylatoxin chemotactic receptor signature
  • C3A-anaphylatoxin receptor signature

Suggested Antigen Peptide Sequences for C3AR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92813, Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA (A8K2H7_HUMAN)
  • C3a anaphylatoxin chemotactic receptor (C3AR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16581

UniProtKB/Swiss-Prot:

C3AR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with C3AR1: view

Function for C3AR1 Gene

Molecular function for C3AR1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.

Phenotypes From GWAS Catalog for C3AR1 Gene

Gene Ontology (GO) - Molecular Function for C3AR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004875 complement receptor activity IBA 21873635
GO:0004876 complement component C3a receptor activity IEA,IDA 10571060
GO:0004930 G protein-coupled receptor activity IEA,IPI 10571060
genes like me logo Genes that share ontologies with C3AR1: view
genes like me logo Genes that share phenotypes with C3AR1: view

Animal Models for C3AR1 Gene

MGI Knock Outs for C3AR1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C3AR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C3AR1 Gene

Localization for C3AR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C3AR1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C3AR1 gene
Compartment Confidence
plasma membrane 5
lysosome 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for C3AR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 8702752
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035577 azurophil granule membrane TAS --
genes like me logo Genes that share ontologies with C3AR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C3AR1 Gene

Pathways & Interactions for C3AR1 Gene

genes like me logo Genes that share pathways with C3AR1: view

Pathways by source for C3AR1 Gene

3 GeneGo (Thomson Reuters) pathways for C3AR1 Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
1 R&D Systems pathway for C3AR1 Gene

SIGNOR curated interactions for C3AR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for C3AR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002430 complement receptor mediated signaling pathway IEA,IDA 10571060
GO:0006935 chemotaxis IEA --
GO:0006954 inflammatory response TAS,IBA 21873635
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA,TAS --
genes like me logo Genes that share ontologies with C3AR1: view

Drugs & Compounds for C3AR1 Gene

(13) Drugs for C3AR1 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>125</sup>I]C3a (human) Pharma Agonist, Full agonist 0
C3a Pharma Agonist, Full agonist 0
E7 Pharma Agonist, Full agonist 0
FLPLAR Pharma Agonist, Full agonist 0
FLTChaAR Pharma Antagonist 0

(2) Additional Compounds for C3AR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C3AR1: view

Transcripts for C3AR1 Gene

mRNA/cDNA for C3AR1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C3AR1

Alternative Splicing Database (ASD) splice patterns (SP) for C3AR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c
SP1: -
SP2: -
SP3:

Relevant External Links for C3AR1 Gene

GeneLoc Exon Structure for
C3AR1

Expression for C3AR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C3AR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C3AR1 Gene

This gene is overexpressed in Whole Blood (x21.8).

Protein differential expression in normal tissues from HIPED for C3AR1 Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C3AR1 Gene



Protein tissue co-expression partners for C3AR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C3AR1

SOURCE GeneReport for Unigene cluster for C3AR1 Gene:

Hs.591148

mRNA Expression by UniProt/SwissProt for C3AR1 Gene:

Q16581-C3AR_HUMAN
Tissue specificity: Widely expressed in several differentiated hematopoietic cell lines, in the lung, spleen, ovary, placenta, small intestine, throughout the brain, heart, and endothelial cells. Mostly expressed in lymphoid tissues.

Evidence on tissue expression from TISSUES for C3AR1 Gene

  • Lung(4.4)
  • Nervous system(2.9)
  • Blood(2.9)
  • Intestine(2.6)
  • Spleen(2.6)
  • Lymph node(2.5)
  • Bone marrow(2.5)
  • Heart(2.2)
  • Liver(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with C3AR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for C3AR1 Gene

Orthologs for C3AR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3AR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C3AR1 29 30
  • 99.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C3AR1 29 30
  • 82.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C3AR1 29 30
  • 81.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia C3ar1 29 16 30
  • 75.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C3ar1 29
  • 73.87 (n)
Chicken
(Gallus gallus)
Aves C3AR1 29 30
  • 56.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C3AR1 30
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498174 29
  • 56.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii c3ar1 29
  • 51.95 (n)
C3AR1 30
  • 38 (a)
OneToOne
Species where no ortholog for C3AR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C3AR1 Gene

ENSEMBL:
Gene Tree for C3AR1 (if available)
TreeFam:
Gene Tree for C3AR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C3AR1: view image
Alliance of Genome Resources:
Additional Orthologs for C3AR1

Paralogs for C3AR1 Gene

Paralogs for C3AR1 Gene

(12) SIMAP similar genes for C3AR1 Gene using alignment to 3 proteins:

  • C3AR_HUMAN
  • A8K2H7_HUMAN
  • F5GZE6_HUMAN
genes like me logo Genes that share paralogs with C3AR1: view

Variants for C3AR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C3AR1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11567806 Benign: not provided 8,059,779(-) A/Gp.Val136Ala
NM_004054.4(C3AR1):c.407T>C (p.Val136Ala)
MISSENSE
rs190043630 Benign: not provided 8,060,046(-) A/C
NM_004054.4(C3AR1):c.140T>G (p.Val47Gly)
MISSENSE
rs193921139 Uncertain Significance: Malignant tumor of prostate 8,059,038(-) A/G
NM_004054.4(C3AR1):c.1148T>C (p.Val383Ala)
MISSENSE
rs754599327 Likely Benign: not provided 8,060,060(-) C/T
NM_004054.4(C3AR1):c.126G>A (p.Gly42=)
SYNONYMOUS
rs869312973 Likely Pathogenic: Atypical hemolytic-uremic syndrome 1 8,059,829(-) A/ATC
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C3AR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C3AR1 Gene

Variant ID Type Subtype PubMed ID
esv2759877 CNV gain+loss 17122850
esv3628444 CNV loss 21293372
esv3628445 CNV gain 21293372
nsv1045521 CNV gain 25217958
nsv428270 CNV gain 18775914

Variation tolerance for C3AR1 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C3AR1 Gene

Human Gene Mutation Database (HGMD)
C3AR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C3AR1
Leiden Open Variation Database (LOVD)
C3AR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C3AR1 Gene

Disorders for C3AR1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for C3AR1 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
complement component 3 deficiency
  • c3 deficiency
complement component 5 deficiency
  • c5d
multiple sclerosis
  • multiple sclerosis, susceptibility to
macular degeneration, age-related, 1
  • armd1
- elite association - COSMIC cancer census association via MalaCards
Search C3AR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C3AR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C3AR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C3AR1 Gene

Publications for C3AR1 Gene

  1. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PMID: 15278436) Hasegawa K … Suzuki Y (Human genetics 2004) 3 22 40
  2. Sulfation of tyrosine 174 in the human C3a receptor is essential for binding of C3a anaphylatoxin. (PMID: 12871936) Gao J … Gerard NP (The Journal of biological chemistry 2003) 3 4 22
  3. Expression cloning of the human C3a anaphylatoxin receptor (C3aR) from differentiated U-937 cells. (PMID: 8765043) Crass T … Bautsch W (European journal of immunology 1996) 3 4 22
  4. cDNA cloning of a novel G protein-coupled receptor with a large extracellular loop structure. (PMID: 8605247) Roglic A … Ye RD (Biochimica et biophysica acta 1996) 2 3 4
  5. Molecular cloning and characterization of the human anaphylatoxin C3a receptor. (PMID: 8702752) Ames RS … Kumar C (The Journal of biological chemistry 1996) 3 4 22

Products for C3AR1 Gene

Sources for C3AR1 Gene