C9 - complement C9 Gene
Also Known as C9D; ARMD15
Species: Homo sapiens
About C9
This gene has 7 transcripts (splice variants), 190 orthologues, 39 paralogues and is associated with 4 phenotypes. Restricted expression toward liver (RPKM 365.0).
Summary
This gene encodes the final component of the Complement System. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on Bacterial membranes to form a pore, permitting disruption of Bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
C9 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001737.5 | NP_001728.1 | complement component C9 preproprotein |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in cell killing |
IDA
IDA: Inferred from direct assay
|
26841934 | GOA |
| involved in protein homooligomerization |
IDA
IDA: Inferred from direct assay
|
26841934 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
22832194 | GOA |
| part of membrane attack complex |
IDA
IDA: Inferred from direct assay
|
22832194 | GOA |
| part of membrane attack complex |
IPI
IPI: Inferred from physical interaction
|
30552328 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
26841934 | GOA |
C9 Protein Structure
TSP_1: Thrombospondin type 1 domain (46 - 94)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (100 - 134)
MACPF: MAC/Perforin domain (272 - 501)
- 0
- 100
- 200
- 300
- 400
- 500
- 559 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
complement component C9 |
|
C9 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
C9 | P02748 | APOE | Homo sapiens | P02649 | 33961781 | |
|
Intra
|
C9 | P02748 | APOE | Homo sapiens | P02649 | 28514442 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Complement Component 9 Deficiency |
|
|
| Macular Degeneration, Age-Related, 15 |
|
|
| Immunodeficiency Due To A Late Component Of Complement Deficiency |
|
|
| Meningococcal Meningitis |
|
|
| Immunoglobulin Heavy-And-Light Chain |
|
|
| Eye Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | C9 | MGD | MGI:1098282 |
| Felis catus | C9 | VGNC | VGNC:60238 |
| Macaca mulatta | C9 | VGNC | VGNC:70482 |
| Rattus norvegicus | C9 | RGD | RGD:620319 |
| Bos taurus | C9 | VGNC | VGNC:26647 |
| Canis familiaris | C9 | VGNC | VGNC:38603 |
| Others | C9 | NCBI |