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C3 complement C3 [ Homo sapiens (human) ]

Gene ID: 718, updated on 25-Oct-2020

Summary

Official Symbol
C3provided by HGNC
Official Full Name
complement C3provided by HGNC
Primary source
HGNC:HGNC:1318
See related
Ensembl:ENSG00000125730 MIM:120700
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. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
Expression
Biased expression in liver (RPKM 1676.7), gall bladder (RPKM 250.0) and 5 other tissues See more
Orthologs

Genomic context

Location:
19p13.3
Exon count:
41
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6677704..6720650, 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 TNF superfamily member 14 Neighboring gene G protein-coupled receptor 108 Neighboring gene uncharacterized LOC107985302 Neighboring gene microRNA 6791 Neighboring gene thyroid hormone receptor interactor 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Complement component 3 deficiency, autosomal recessive
MedGen: C3151071 OMIM: 613779 GeneReviews: C3 Glomerulopathy
Compare labs
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
GeneReviews: Not available
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
GeneReviews: Not available
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
GeneReviews: Not available
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
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
Envelope surface glycoprotein gp160, precursor env Complement component 3 (C3) production is upregulated by HIV-1 gp160 PubMed
Nef 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
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of complement component 3 (C3) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
signaling 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
 
amyloid-beta clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface receptor signaling pathway involved in cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
complement activation IBA
Inferred from Biological aspect of Ancestor
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
 
complement-dependent cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
complement-mediated synapse pruning ISS
Inferred from Sequence or Structural Similarity
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
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
neuron remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of G protein-coupled receptor 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 transmembrane 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 phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of type IIa hypersensitivity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular endothelial growth factor production IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
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 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
vertebrate eye-specific patterning ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
blood microparticle HDA PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement C3
Names
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1
C3a anaphylatoxin
acylation-stimulating protein cleavage product
complement component 3
complement component C3a
complement component C3b
epididymis secretory sperm binding protein Li 62p
prepro-C3
NP_000055.2

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    4970..47817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_27

mRNA and Protein(s)

  1. NM_000064.4NP_000055.2  complement C3 preproprotein

    See identical proteins and their annotated locations for NP_000055.2

    Status: REVIEWED

    Source sequence(s)
    AA025232, AC008760, AK299114, BC150179, BC150299, K02765
    Consensus CDS
    CCDS32883.1
    UniProtKB/Swiss-Prot
    P01024
    UniProtKB/TrEMBL
    B4DR57, V9HWA9
    Related
    ENSP00000245907.4, ENST00000245907.11
    Conserved Domains (8) summary
    cd00017
    Location:678747
    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
    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
    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
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:129224
    A2M_N; MG2 domain
    pfam07677
    Location:13981493
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:10511282
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:458604
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    6677704..6720650 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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