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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]
C3 (Complement C3) is a Protein Coding gene. Diseases associated with C3 include Complement Component 3 Deficiency, Autosomal Recessive and Hemolytic Uremic Syndrome, Atypical 5. Among its related pathways are Immune response Lectin induced complement pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and C5L2 anaphylatoxin chemotactic receptor binding. An important paralog of this gene is C4B.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004866 | endopeptidase inhibitor activity | IEA | -- |
GO:0005102 | signaling receptor binding | TAS | 9164946 |
GO:0005515 | protein binding | IEA,IPI | 7483825 |
GO:0031715 | C5L2 anaphylatoxin chemotactic receptor binding | IDA | 15833747 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 25645918 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
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|
2 | Peptide ligand-binding receptors | ||
3 | Complement Pathway |
Complement Pathway
.62
Alternative Complement Pathway
.01
|
Classical Complement Pathway
.01
Lectin Induced Complement Pathway
.01
|
4 | Creation of C4 and C2 activators | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001798 | positive regulation of type IIa hypersensitivity | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IDA | 15833747 |
GO:0001970 | positive regulation of activation of membrane attack complex | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Human immunoglobulin G | Approved, Investigational | Pharma | Target, binder | 0 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
Zinc chloride | Approved, Investigational | Pharma | Target, inhibitor, ligand | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Compstatin |
|
206645-99-0 |
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NDT 9513727 |
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439571-48-9 |
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PMX 53 |
|
219639-75-5 |
|
|
||
W 54011 |
|
405098-33-1 |
|
|
Compound | Action | Cas Number |
---|---|---|
Compstatin | C3-binding protein, inhibits complement activation | 206645-99-0 |
NDT 9513727 | Potent, selective human C5a receptor antagonist | 439571-48-9 |
PMX 205 | Potent C5a receptor peptide antagonist | 514814-49-4 |
PMX 53 | Potent C5a receptor antagonist | 219639-75-5 |
W 54011 | High affinity C5a receptor antagonist | 405098-33-1 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | ^ | 34a | · | 34b | ^ | 35a | · | 35b | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42a | · | 42b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | C3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | C3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C3 30 |
|
||
C3D 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c3 30 |
|
||
Str.2323 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100331428 30 |
|
||
C3 (5 of 9) 31 |
|
OneToMany | |||
c3b 31 |
|
OneToMany | |||
c3c 31 |
|
OneToMany | |||
c3a 31 |
|
OneToMany | |||
C3 (9 of 9) 31 |
|
OneToMany | |||
C3 (7 of 9) 31 |
|
OneToMany | |||
C3 (3 of 9) 31 |
|
OneToMany | |||
C3 (1 of 9) 31 |
|
OneToMany | |||
C3 (8 of 9) 31 |
|
OneToMany | |||
-- 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.4097 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
625901 | Conflicting Interpretations: Age-related macular degeneration 9; Atypical hemolytic-uremic syndrome 5; Complement component 3 deficiency, autosomal recessive; not provided | 6,694,636(-) | TGCA/T | INTRON_VARIANT | |
636510 | Uncertain Significance: not provided | 6,686,799(-) | T/C | MISSENSE_VARIANT | |
636934 | Conflicting Interpretations: not provided | 6,684,580(-) | A/G | MISSENSE_VARIANT | |
714756 | Benign: not provided | 6,684,842(-) | G/A | INTRON_VARIANT | |
719210 | Conflicting Interpretations: Age-related macular degeneration 9; Atypical hemolytic-uremic syndrome 5; Complement component 3 deficiency, autosomal recessive; not provided | 6,697,643(-) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv14e196 | CNV | duplication | 17116639 |
dgv6235n54 | CNV | loss | 21841781 |
esv2265092 | CNV | deletion | 18987734 |
esv2677585 | CNV | deletion | 23128226 |
esv2718067 | CNV | deletion | 23290073 |
esv2718068 | CNV | deletion | 23290073 |
esv2718069 | CNV | deletion | 23290073 |
esv2718070 | CNV | deletion | 23290073 |
esv33172 | CNV | gain | 17666407 |
esv3555949 | CNV | deletion | 23714750 |
esv3583214 | CNV | loss | 25503493 |
esv5110 | CNV | loss | 18987735 |
nsv1121545 | CNV | deletion | 24896259 |
nsv1123213 | CNV | deletion | 24896259 |
nsv1135066 | CNV | deletion | 24896259 |
nsv1135521 | CNV | deletion | 24896259 |
nsv470120 | CNV | loss | 18288195 |
nsv578462 | CNV | loss | 21841781 |
nsv578463 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
complement component 3 deficiency, autosomal recessive |
|
|
hemolytic uremic syndrome, atypical 5 |
|
|
macular degeneration, age-related, 9 |
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atypical hemolytic uremic syndrome with complement gene abnormality |
|
|
complement component 3 deficiency |
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