CFP
Summary: This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| complement factor properdin | MIM:300383 | Ensembl:ENSG00000126759 | HGNC:HGNC:8864 | PA33206 | Xp11.23 |
Gene Categories:
DRUGGABLE GENOMEGO terms in CFP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006508 | proteolysis |
| BP | TAS | GO:0006955 | immune response |
| BP | TAS | GO:0006956 | complement activation |
| BP | TAS | GO:0006957 | complement activation, alternative pathway |
| BP | TAS | GO:0030449 | regulation of complement activation |
| BP | TAS | GO:0042742 | defense response to bacterium |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | TAS | GO:0035580 | specific granule lumen |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | TAS | GO:1904724 | tertiary granule lumen |
| MF | TAS | GO:0004252 | serine-type endopeptidase activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: CFP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CFP
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP545 | Complement Activation |
| kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
| biocarta | alternativepathway | alternative complement pathway |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-166658 | Complement cascade |
| reactome | R-HSA-166663 | Initial triggering of complement |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-173736 | Alternative complement activation |
| reactome | R-HSA-174577 | Activation of C3 and C5 |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5083635 | Defective B3GALTL causes Peters-plus syndrome (PpS) |
| reactome | R-HSA-5173105 | O-linked glycosylation |
| reactome | R-HSA-5173214 | O-glycosylation of TSR domain-containing proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-977606 | Regulation of Complement cascade |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CFP
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