ENSG00000125730


Homo sapiens

Features
Gene ID: ENSG00000125730
  
Biological name :C3
  
Synonyms : C3 / complement C3 / P01024
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.3
Gene start: 6677704
Gene end: 6730562
  
Corresponding Affymetrix probe sets: 217767_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000245907
Ensembl peptide - ENSP00000469744
Ensembl peptide - ENSP00000471384
Ensembl peptide - ENSP00000472044
Ensembl peptide - ENSP00000469482
NCBI entrez gene - 718     See in Manteia.
OMIM - 120700
RefSeq - NM_000064
RefSeq Peptide - NP_000055
swissprot - V9HWA9
swissprot - M0QXZ3
swissprot - M0QYC8
swissprot - M0R0Q9
swissprot - M0R1Q1
swissprot - P01024
Ensembl - ENSG00000125730
  
Related genetic diseases (OMIM): 611378 - {Macular degeneration, age-related, 9}, 611378
  612925 - {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925
  613779 - C3 deficiency, 613779
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 c3a.1ENSDARG00000012694Danio rerio
 c3a.2ENSDARG00000087359Danio rerio
 c3a.3ENSDARG00000052207Danio rerio
 c3a.4ENSDARG00000093198Danio rerio
 c3a.5ENSDARG00000053462Danio rerio
 c3a.6ENSDARG00000043719Danio rerio
 c3b.1ENSDARG00000093068Danio rerio
 c3b.2ENSDARG00000001818Danio rerio
 C3ENSMUSG00000024164Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C4B / P0C0L5 / complement C4B (Chido blood group)ENSG0000022438929
C4A / P0C0L4 / complement C4A (Rodgers blood group)ENSG0000024473129
C5 / P01031 / complement C5ENSG0000010680428
CPAMD8 / Q8IZJ3 / C3 and PZP like, alpha-2-macroglobulin domain containing 8ENSG0000016011122
A2M / P01023 / alpha-2-macroglobulinENSG0000017589921
PZP / P20742 / PZP, alpha-2-macroglobulin likeENSG0000012683820
CD109 / Q6YHK3 / CD109 moleculeENSG0000015653520
A2ML1 / A8K2U0 / alpha-2-macroglobulin like 1ENSG0000016653520


Protein motifs (from Interpro)
Interpro ID Name
 IPR000020  Anaphylatoxin/fibulin
 IPR001134  Netrin domain
 IPR001599  Alpha-2-macroglobulin
 IPR001840  Anaphylatoxin, complement system domain
 IPR002890  Alpha-2-macroglobulin, N-terminal
 IPR008930  Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
 IPR008993  Tissue inhibitor of metalloproteinases-like, OB-fold
 IPR009048  Alpha-macroglobulin, receptor-binding
 IPR011625  Alpha-2-macroglobulin, N-terminal 2
 IPR011626  Alpha-macroglobulin complement component
 IPR013783  Immunoglobulin-like fold
 IPR018081  Anaphylatoxin, complement system
 IPR018933  Netrin module, non-TIMP type
 IPR019565  Alpha-2-macroglobulin, thiol-ester bond-forming
 IPR019742  Alpha-2-macroglobulin, conserved site
 IPR035711  Complement C3-like
 IPR035815  Complement C3-like, NTR domain
 IPR036595  Alpha-macroglobulin, receptor-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001798 positive regulation of type IIa hypersensitivity IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0001970 positive regulation of activation of membrane attack complex IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006911 phagocytosis, engulfment IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0006956 complement activation IEA
 biological_processGO:0006957 complement activation, alternative pathway TAS
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IDA
 biological_processGO:0010828 positive regulation of glucose transmembrane transport IDA
 biological_processGO:0010866 regulation of triglyceride biosynthetic process IDA
 biological_processGO:0010884 positive regulation of lipid storage IDA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045745 positive regulation of G-protein coupled receptor protein signaling pathway IDA
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0097242 amyloid-beta clearance IEA
 biological_processGO:2000427 positive regulation of apoptotic cell clearance IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0035578 azurophil granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0004866 endopeptidase inhibitor activity IEA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0031715 C5L2 anaphylatoxin chemotactic receptor binding IDA


Pathways (from Reactome)
Pathway description
Alternative complement activation
Activation of C3 and C5
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Peptide ligand-binding receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
G alpha (i) signalling events
Neutrophil degranulation
Post-translational protein phosphorylation
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000793 Membranoproliferative glomerulonephritis 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0005421 Decreased serum complement C3 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000080618 CPB2 / Q96IY4 / carboxypeptidase B2  / reaction
 ENSG00000126759 CFP / P27918 / complement factor properdin  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000134365 CFHR4 / Q92496 / complement factor H related 4  / complex / reaction
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000134389 CFHR5 / Q9BXR6 / complement factor H related 5  / complex / reaction
 ENSG00000171860 C3AR1 / Q16581 / complement C3a receptor 1  / complex / reaction
 ENSG00000166278 C2 / P06681 / complement C2  / complex / reaction
 ENSG00000196352 CD55 / P08174 / CD55 molecule (Cromer blood group)  / complex / reaction
 ENSG00000117335 CD46 / P15529 / CD46 molecule  / complex / reaction
 ENSG00000244414 CFHR1 / Q03591 / complement factor H related 1  / complex / reaction
 ENSG00000000971 CFH / P08603 / complement factor H  / complex / reaction
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / complex / reaction
 ENSG00000080910 CFHR2 / P36980 / complement factor H related 2  / complex / reaction
 ENSG00000205403 CFI / P05156 / complement factor I  / complex / reaction
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / complex / reaction
 ENSG00000243649 CFB / P00751 / complement factor B  / complex / reaction
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / complex / reaction
 ENSG00000110651 CD81 / P60033 / CD81 molecule  / complex / reaction
 ENSG00000178772 CPN2 / P22792 / carboxypeptidase N subunit 2  / reaction
 ENSG00000177455 CD19 / P15391 / CD19 molecule  / complex / reaction
 ENSG00000197766 CFD / P00746 / complement factor D  / reaction
 ENSG00000185885 IFITM1 / P13164 / interferon induced transmembrane protein 1  / complex / reaction
 ENSG00000117322 CR2 / P20023 / complement C3d receptor 2  / complex / reaction
 ENSG00000120054 CPN1 / P15169 / carboxypeptidase N subunit 1  / reaction






 

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