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C3 complement component 3 [ Homo sapiens (human) ]

Gene ID: 718, updated on 6-Jul-2014
Official Symbol
C3provided by HGNC
Official Full Name
complement component 3provided by HGNC
Primary source
HGNC:1318
See related
Ensembl:ENSG00000125730; HPRD:00400; MIM:120700; Vega:OTTHUMG00000150335
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASP; C3a; C3b; AHUS5; ARMD9; CPAMD1; HEL-S-62p
Summary
Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq, Feb 2009]
Location:
19p13.3-p13.2
Exon count :
41
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (6677835..6720651, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6677846..6720662, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 50 Neighboring gene tumor necrosis factor (ligand) superfamily, member 14 Neighboring gene G protein-coupled receptor 108 Neighboring gene microRNA 6791 Neighboring gene thyroid hormone receptor interactor 10

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Age-related macular degeneration 9
MedGen: C1969651 OMIM: 611378 GeneReviews: Not available
Compare labs
Atypical hemolytic-uremic syndrome 5 Compare labs
Complement component 3 deficiency, autosomal recessive
MedGen: C3151071 OMIM: 613779 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
NHGRI GWA Catalog
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
NHGRI GWA Catalog
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
NHGRI GWA Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
NHGRI GWA Catalog
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Env, gp160, envelope glycoprotein env Complement component 3 (C3) production is upregulated by HIV-1 gp160 PubMed
Envelope surface glycoprotein gp120 env Preincubation of HIV-1 gp41 with either factor H or properdin, and of HIV-1 gp120 with C3b or C4b affect the interaction between HIV-1 gp41 and gp120 PubMed
env A synthetic peptide covering positions 233-251 of the HIV-1 gp120 protein binds to complement proteins C3, C4, C5, C9, and properdin PubMed
env Complexes of recombinant HIV-1 gp120 with anti-HIV-1 antibodies cleave C3 and present generated C3 fragments on the cell surface PubMed
env Inhibition of DAF or use of factor H depleted sera significantly increases C3 deposition on recombinant HIV-1 gp120 coated CD4 cells PubMed
env Complement proteins C4, C3d, C5b-9, and properdin bind to HIV-1 gp120-coated CD4+ T cells of healthy individuals when incubated in autologous serum PubMed
env Amino acid residues 100-129, 161-190, 231-250, 301-328, 410-449, and 470-499 of HIV-1 gp120 are involved in its binding to C3 PubMed
Nef, p27 nef HIV-1 induces the upregulation of complement factor C3 in astrocytes and neurons through signaling pathways that involve protein kinase C and adenylate cyclase activation, which is an effect that may contribute to the pathogenesis of AIDS in the brain PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Activation of C3 and C5, organism-specific biosystem (from REACTOME)
    Activation of C3 and C5, organism-specific biosystemThe 3 pathways of complement activation converge on the cleavage of C3 by C3 convertases. C3 convertase cleaves C3 into C3a and C3b - a central step of complement activation. C3a remains in the flu...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Alternative complement activation, organism-specific biosystem (from REACTOME)
    Alternative complement activation, organism-specific biosystemThe proteins participating in alternative pathway activation are C3 (and C3b), the factors B, D, and properdin. In the first place, alternative pathway activation is a positive feedback mechanism to ...
  • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Complement Activation, Classical Pathway, organism-specific biosystem (from WikiPathways)
    Complement Activation, Classical Pathway, organism-specific biosystemThe complement system is a biochemical cascade that helps, or ???complements???, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immun...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Initial triggering of complement, organism-specific biosystem (from REACTOME)
    Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Legionellosis, organism-specific biosystem (from KEGG)
    Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Legionellosis, conserved biosystem (from KEGG)
    Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Leishmaniasis, organism-specific biosystem (from KEGG)
    Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leishmaniasis, conserved biosystem (from KEGG)
    Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
    Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Staphylococcus aureus infection, conserved biosystem (from KEGG)
    Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C5L2 anaphylatoxin chemotactic receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
complement activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
complement activation TAS
Traceable Author Statement
more info
 
complement activation, alternative pathway TAS
Traceable Author Statement
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G-protein coupled receptor protein signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of activation of membrane attack complex IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic cell clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipid storage IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of type IIa hypersensitivity IEA
Inferred from Electronic Annotation
more info
 
positive regulation vascular endothelial growth factor production IDA
Inferred from Direct Assay
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
regulation of triglyceride biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
complement C3
Names
complement C3
prepro-C3
C3a anaphylatoxin
complement component C3
complement component C3a
complement component C3b
acylation-stimulating protein cleavage product
epididymis secretory sperm binding protein Li 62p
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1
NP_000055.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009557.1 

    Range
    5001..47817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_27

mRNA and Protein(s)

  1. NM_000064.2NP_000055.2  complement C3 precursor

    See proteins identical to NP_000055.2

    Status: REVIEWED

    Source sequence(s)
    AI758500, BC063852, BP201387, BP349355, K02765
    Consensus CDS
    CCDS32883.1
    UniProtKB/Swiss-Prot
    P01024
    UniProtKB/TrEMBL
    V9HWA9
    Related
    ENSP00000245907, OTTHUMP00000197086, ENST00000245907, OTTHUMT00000317636
    Conserved Domains (9) summary
    cd00017
    Location:678747
    Blast Score: 270
    ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
    cd02896
    Location:9961282
    Blast Score: 1115
    complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...
    cd03583
    Location:15131661
    Blast Score: 735
    NTR_complement_C3; NTR/C345C domain, complement C3 subfamily; The NTR domain found in complement C3 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C3 plays a pivotal role in the activation of the complement ...
    pfam00207
    Location:770866
    Blast Score: 339
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:129224
    Blast Score: 233
    A2M_N; MG2 domain
    pfam07677
    Location:13981493
    Blast Score: 341
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:10511282
    Blast Score: 641
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:456605
    Blast Score: 279
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam11974
    Location:2391
    Blast Score: 135
    MG1; Alpha-2-macroglobulin MG1 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    6677835..6720651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    6440030..6483146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    6678095..6720521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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