InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: C9

Summary

InnateDB Protein

IDBP-17896.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

complement component 9

Synonyms

ARMD15; C9D;

Species

Homo sapiens

Ensembl Protein

ENSP00000263408

InnateDB Gene

IDBG-17892 (C9)

Protein Structure

UniProt Annotation

Function

Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC.

Subcellular Localization

Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore.

Disease Associations

Complement component 9 deficiency (C9D) [MIM:613825]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. {ECO:0000269PubMed:9634479}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Macular degeneration, age-related, 15 (ARMD15) [MIM:615591]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:24036952}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006957	complement activation, alternative pathway
GO:0006958	complement activation, classical pathway
GO:0019836	hemolysis by symbiont of host erythrocytes
GO:0030449	regulation of complement activation
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005576	extracellular region
GO:0005579	membrane attack complex
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle

Protein Structure and Domains

PDB ID

InterPro

IPR000884 Thrombospondin, type 1 repeat
IPR001862 Membrane attack complex component/perforin/complement C9
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR020864 Membrane attack complex component/perforin (MACPF) domain

PFAM

PF00090
PF00057
PF01823

PRINTS

PR00764
PR00261

PIRSF

SMART

SM00209
SM00192
SM00457

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt