C5
Summary: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| complement C5 | MIM:120900 | Ensembl:ENSG00000106804 | HGNC:HGNC:1331 | PA25911 | 9q33.2 |
GO terms in C5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0004866 | endopeptidase inhibitor activity |
| MF | TAS | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008009 | chemokine activity |
| BP | TAS | GO:0000187 | activation of MAPK activity |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | TAS | GO:0006935 | chemotaxis |
| BP | IEA | GO:0006954 | inflammatory response |
| BP | IEA | GO:0006957 | complement activation, alternative pathway |
| BP | IEA | GO:0006958 | complement activation, classical pathway |
| BP | TAS | GO:0007166 | cell surface receptor signaling pathway |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0010575 | positive regulation of vascular endothelial growth factor production |
| BP | IDA | GO:0010760 | negative regulation of macrophage chemotaxis |
| BP | IEA | GO:0010951 | negative regulation of endopeptidase activity |
| BP | IEA | GO:0019835 | cytolysis |
| BP | TAS | GO:0030449 | regulation of complement activation |
| BP | IEA | GO:0045766 | positive regulation of angiogenesis |
| BP | IEA | GO:0060326 | cell chemotaxis |
| BP | IDA | GO:0090197 | positive regulation of chemokine secretion |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005579 | membrane attack complex |
| CC | TAS | GO:0005615 | extracellular space |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: C5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2328 | Allograft Rejection |
| wikipathways | WP2431 | Spinal Cord Injury |
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP3941 | Oxidative Damage |
| wikipathways | WP545 | Complement Activation |
| kegg | hsa04610 | Complement and coagulation cascades - Homo sapiens (human) |
| kegg | hsa05020 | Prion diseases - Homo sapiens (human) |
| kegg | hsa05133 | Pertussis - Homo sapiens (human) |
| kegg | hsa05150 | Staphylococcus aureus infection - Homo sapiens (human) |
| kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
| kegg | hsa05322 | Systemic lupus erythematosus - Homo sapiens (human) |
| biocarta | alternativepathway | alternative complement pathway |
| biocarta | classicpathway | classical complement pathway |
| biocarta | lectinpathway | lectin induced complement pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-166658 | Complement cascade |
| reactome | R-HSA-166665 | Terminal pathway of complement |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-174577 | Activation of C3 and C5 |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373076 | Class A/1 (Rhodopsin-like receptors) |
| reactome | R-HSA-375276 | Peptide ligand-binding receptors |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-500792 | GPCR ligand binding |
| reactome | R-HSA-977606 | Regulation of Complement cascade |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C5
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