Homo sapiens Protein: C7
Summary
InnateDB Protein IDBP-18521.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C7
Protein Name complement component 7
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000322061
InnateDB Gene IDBG-18519 (C7)
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. C7 serves as a membrane anchor.
Subcellular Localization Secreted.
Disease Associations Complement component 7 deficiency (C7D) [MIM:610102]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. {ECO:0000269PubMed:8871666, ECO:0000269PubMed:9218625, ECO:0000269PubMed:9856499}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [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:0006883 cellular sodium ion homeostasis
GO:0006956 complement activation
GO:0006957 complement activation, alternative pathway
GO:0006958 complement activation, classical pathway
GO:0019835 cytolysis
GO:0030449 regulation of complement activation
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0005576 extracellular region
GO:0005579 membrane attack complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000436 Sushi/SCR/CCP
IPR000884 Thrombospondin, type 1 repeat
IPR001862 Membrane attack complex component/perforin/complement C9
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR003884 Factor I / membrane attack complex
IPR020864 Membrane attack complex component/perforin (MACPF) domain
PFAM PF00084
PF00090
PF00057
PF01823
PRINTS PR00764
PR00261
PIRSF
SMART SM00032
SM00209
SM00192
SM00057
SM00457
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P10643
PhosphoSite PhosphoSite-P10643
TrEMBL
UniProt Splice Variant
Entrez Gene 730
UniGene Hs.78065
RefSeq NP_000578
HUGO HGNC:1346
OMIM 217070
CCDS CCDS47201
HPRD 01957
IMGT
EMBL BC063851 J03507 X86328 X86329 X86330 X86331 X86332 X86333 X86334 X86335 X86336 X86337 X86338 X86339 X86340 X86341 X86342 X86343 X86344
GenPept AAA51861 AAH63851 CAA60121