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C3 (complement C3)

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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027814 hsa-miR-98-5p Microarray 19088304
MIRT030181 hsa-miR-26b-5p Microarray 19088304
MIRT030181 hsa-miR-26b-5p PAR-CLIP 27292025
MIRT461944 hsa-miR-6516-5p PAR-CLIP 23592263
MIRT461945 hsa-miR-550b-2-5p PAR-CLIP 23592263
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVH
DFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKV
VLVS
LQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSL
SSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEV
KEYVLPSFEVIVEPTE
KFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEV
VLSRKVLL
DGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKT
PKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPL
SITVRTKKQELSEAEQATRTMQALPY
STVGNSNNYLHLSVLRTELRPGETLNVNFLLRMD
RAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGA
SGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDK
GVFVL
NKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAEL
QCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEAC
KKVFLDCC
NYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKE
PPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVV
RNEQVEIRAVLYNYRQNQELKVRVEL
LHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVI
VPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKE
DIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTP
TVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTA
YVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKD
MALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMG
RLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQR
YYGGGYGSTQATFMVFQALAQY
QKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLR
SEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDA
KNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSD
RNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFY
HPEKEDG
KLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDE
YIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSY
IIGKDTWVEHWPEEDECQDEENQK
QCQDLGAFTESMVVFGCPN
Sequence length 1663
Interactions View interactions

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