Free for academic non-profit institutions. Other users need a Commercial license
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]
CFP (Complement Factor Properdin) is a Protein Coding gene. Diseases associated with CFP include Properdin Deficiency, X-Linked and Properdin Deficiency. Among its related pathways are Metabolism of proteins and Innate Immune System.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22518841 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | TAS,IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0030141 | secretory granule | IEA | -- |
GO:0035580 | specific granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Complement Pathway |
Alternative Complement Pathway
.01
|
|
3 | O-glycosylation of TSR domain-containing proteins | ||
4 | Diseases of glycosylation | ||
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006955 | immune response | TAS | 8530058 |
GO:0006956 | complement activation | TAS | -- |
GO:0006957 | complement activation, alternative pathway | TAS | -- |
GO:0030449 | regulation of complement activation | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CFP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CFP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CFP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cfp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cfp 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CFP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CFP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CFP 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | cfp 30 31 |
|
OneToMany | |
CFP (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | unc-5 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-5 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8480 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713258 | Benign: not provided | 47,627,159(-) | C/T | MISSENSE_VARIANT | |
723100 | Likely Benign: not provided | 47,626,175(-) | A/G | INTRON_VARIANT | |
726140 | Benign: not provided | 47,626,818(-) | C/T | MISSENSE_VARIANT | |
728910 | Benign: not provided | 47,629,594(-) | C/T | MISSENSE_VARIANT | |
729229 | Benign: not provided | 47,627,296(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1141672 | CNV | duplication | 24896259 |
nsv438130 | CNV | loss | 16468122 |
Disorder | Aliases | PubMed IDs |
---|---|---|
properdin deficiency, x-linked |
|
|
properdin deficiency |
|
|
complement deficiency |
|
|
acute poststreptococcal glomerulonephritis |
|
|
meningococcal meningitis |
|