Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
718 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Complement C3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
C3 |
SynonymsGene synonyms aliases
|
AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2230199 |
G>C,T |
Risk-factor, benign |
Coding sequence variant, missense variant |
rs11569534 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs11569541 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs111595742 |
T>A,C |
Pathogenic |
Splice acceptor variant |
rs121909583 |
C>T |
Risk-factor |
Coding sequence variant, missense variant |
rs121909584 |
G>A |
Risk-factor |
Coding sequence variant, missense variant |
rs121909585 |
C>T |
Risk-factor |
Coding sequence variant, missense variant |
rs121909586 |
G>A,C |
Risk-factor |
Stop gained, coding sequence variant, synonymous variant |
rs147859257 |
T>G |
Uncertain-significance, benign, risk-factor |
Missense variant, coding sequence variant |
rs539992721 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs775015499 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794729228 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1568229677 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599507415 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1599510478 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1599518940 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
CEBPD |
Unknown |
8385337 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001798 |
Process |
Positive regulation of type IIa hypersensitivity |
IEA |
|
GO:0001934 |
Process |
Positive regulation of protein phosphorylation |
IDA |
15833747 |
GO:0001970 |
Process |
Positive regulation of activation of membrane attack complex |
IEA |
|
GO:0004866 |
Function |
Endopeptidase inhibitor activity |
IEA |
|
GO:0005102 |
Function |
Signaling receptor binding |
TAS |
9164946 |
GO:0005515 |
Function |
Protein binding |
IPI |
7483825, 11705926, 12438350, 12540846, 16530040, 17051150, 18796626, 19255449, 20042240, 21317894, 21979047, 22518841, 23086448, 26627825, 27814381, 32296183 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470, 23580065 |
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Component |
Extracellular space |
IDA |
25645918 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006631 |
Process |
Fatty acid metabolic process |
IEA |
|
GO:0006954 |
Process |
Inflammatory response |
IEA |
|
GO:0006955 |
Process |
Immune response |
TAS |
4097977 |
GO:0006956 |
Process |
Complement activation |
IBA |
21873635 |
GO:0006956 |
Process |
Complement activation |
IMP |
19302245 |
GO:0006956 |
Process |
Complement activation |
TAS |
|
GO:0006957 |
Process |
Complement activation, alternative pathway |
TAS |
|
GO:0006958 |
Process |
Complement activation, classical pathway |
IEA |
|
GO:0007165 |
Process |
Signal transduction |
TAS |
10085065 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
TAS |
|
GO:0009617 |
Process |
Response to bacterium |
IEA |
|
GO:0009986 |
Component |
Cell surface |
IEA |
|
GO:0010575 |
Process |
Positive regulation of vascular endothelial growth factor production |
IDA |
16452172 |
GO:0010828 |
Process |
Positive regulation of glucose transmembrane transport |
IDA |
9059512, 15833747 |
GO:0010866 |
Process |
Regulation of triglyceride biosynthetic process |
IDA |
10432298 |
GO:0010884 |
Process |
Positive regulation of lipid storage |
IDA |
9555951 |
GO:0010951 |
Process |
Negative regulation of endopeptidase activity |
IEA |
|
GO:0016322 |
Process |
Neuron remodeling |
ISS |
|
GO:0030449 |
Process |
Regulation of complement activation |
TAS |
|
GO:0031715 |
Function |
C5L2 anaphylatoxin chemotactic receptor binding |
IDA |
15833747 |
GO:0032991 |
Component |
Protein-containing complex |
IEA |
|
GO:0034774 |
Component |
Secretory granule lumen |
TAS |
|
GO:0035578 |
Component |
Azurophil granule lumen |
TAS |
|
GO:0035846 |
Process |
Oviduct epithelium development |
IEA |
|
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0045745 |
Process |
Positive regulation of G protein-coupled receptor signaling pathway |
IDA |
15833747 |
GO:0045766 |
Process |
Positive regulation of angiogenesis |
IEA |
|
GO:0048260 |
Process |
Positive regulation of receptor-mediated endocytosis |
ISS |
|
GO:0050776 |
Process |
Regulation of immune response |
TAS |
|
GO:0060100 |
Process |
Positive regulation of phagocytosis, engulfment |
ISS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
21362503, 23533145 |
GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
GO:0097242 |
Process |
Amyloid-beta clearance |
ISS |
|
GO:0097278 |
Process |
Complement-dependent cytotoxicity |
IEA |
|
GO:0150062 |
Process |
Complement-mediated synapse pruning |
ISS |
|
GO:0150064 |
Process |
Vertebrate eye-specific patterning |
ISS |
|
GO:1905114 |
Process |
Cell surface receptor signaling pathway involved in cell-cell signaling |
IEA |
|
GO:2000427 |
Process |
Positive regulation of apoptotic cell clearance |
IMP |
19302245 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P01024 |
Protein name |
Complement C3 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1) [Cleaved into: Complement C3 beta chain; C3-beta-c (C3bc); Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein (ASP) (C3adesArg); Complement C3b alpha' chain; Complement C3c alpha' chain fragment 1; Complement C3dg fragment; Complement C3g fragment; Complement C3d fragment; Complement C3f fragment; Complement C3c alpha' chain fragment 2] |
Protein function |
C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates.; Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. ; [C3-beta-c]: Acts as a chemoattractant for neutrophils in chronic inflammation. ; [Acylation stimulating protein]: adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750). |
PDB |
1C3D
,
1GHQ
,
1W2S
,
2A73
,
2A74
,
2GOX
,
2I07
,
2ICE
,
2ICF
,
2NOJ
,
2QKI
,
2WII
,
2WIN
,
2WY7
,
2WY8
,
2XQW
,
2XWB
,
2XWJ
,
3D5R
,
3D5S
,
3G6J
,
3L3O
,
3L5N
,
3NMS
,
3OED
,
3OHX
,
3OXU
,
3RJ3
,
3T4A
,
4HW5
,
4HWJ
,
4I6O
,
4M76
,
4ONT
,
4ZH1
,
5FO7
,
5FO8
,
5FO9
,
5FOA
,
5FOB
,
5NBQ
,
5O32
,
5O35
,
6EHG
,
6RMT
,
6RMU
,
6RUR
,
6RUV
,
6S0B
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17790 |
MG1 |
23 → 124 |
Macroglobulin domain MG1 |
Domain |
PF01835 |
MG2 |
129 → 224 |
MG2 domain |
Domain |
PF17791 |
MG3 |
226 → 308 |
Macroglobulin domain MG3 |
Domain |
PF17789 |
MG4 |
355 → 446 |
Macroglobulin domain MG4 |
Domain |
PF07703 |
A2M_BRD |
456 → 605 |
Alpha-2-macroglobulin bait region domain |
Domain |
PF01821 |
ANATO |
693 → 728 |
Anaphylotoxin-like domain |
Domain |
PF00207 |
A2M |
770 → 866 |
Alpha-2-macroglobulin family |
Family |
PF07678 |
TED_complement |
983 → 1282 |
A-macroglobulin TED domain |
Domain |
PF07677 |
A2M_recep |
1398 → 1493 |
A-macroglobulin receptor binding domain |
Domain |
PF01759 |
NTR |
1534 → 1644 |
UNC-6/NTR/C345C module |
Domain |
|
Sequence |
|
Sequence length |
1663 |
Interactions |
View interactions |
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|