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 |
|---|---|---|---|---|---|
Namecomplement C5 OMIM IDMIM:120900 Ensembl IDEnsembl:ENSG00000106804 HGNC IDHGNC:HGNC:1331 PHARMGKB IDPA25911 Map Location9q33.2 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD491 | TAE-684 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C5
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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