C9
Complement component C9
Also known as: CO9_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P02748
- Gene
- C9
- Ensembl
- ENSG00000113600
- Chromosome
- 5
- Canonical length
- 559 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
559 residues, UniProt reviewed canonical sequence.
>P02748|C9
1 MSACRSFAVA ICILEISILT AQYTTSYDPE LTESSGSASH IDCRMSPWSE WSQCDPCLRQ
61 MFRSRSIEVF GQFNGKRCTD AVGDRRQCVP TEPCEDAEDD CGNDFQCSTG RCIKMRLRCN
121 GDNDCGDFSD EDDCESEPRP PCRDRVVEES ELARTAGYGI NILGMDPLST PFDNEFYNGL
181 CNRDRDGNTL TYYRRPWNVA SLIYETKGEK NFRTEHYEEQ IEAFKSIIQE KTSNFNAAIS
241 LKFTPTETNK AEQCCEETAS SISLHGKGSF RFSYSKNETY QLFLSYSSKK EKMFLHVKGE
301 IHLGRFVMRN RDVVLTTTFV DDIKALPTTY EKGEYFAFLE TYGTHYSSSG SLGGLYELIY
361 VLDKASMKRK GVELKDIKRC LGYHLDVSLA FSEISVGAEF NKDDCVKRGE GRAVNITSEN
421 LIDDVVSLIR GGTRKYAFEL KEKLLRGTVI DVTDFVNWAS SINDAPVLIS QKLSPIYNLV
481 PVKMKNAHLK KQNLERAIED YINEFSVRKC HTCQNGGTVI LMDGKCLCAC PFKFEGIACE
541 ISKQKISEGL PALEFPNEKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against C9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 1,223 nTPM
Expression across tissuesHPA
Tissue
- liver: 1,223 nTPM
- epididymis: 4.6 nTPM
- kidney: 0.7 nTPM
- spleen: 0.4 nTPM
- testis: 0.4 nTPM
- adipose tissue: 0.1 nTPM
Single-cell type
- hepatocytes: 2,517 nCPM
- medullary thymic epithelial cells: 46 nCPM
- kupffer cells: 34 nCPM
- cholangiocytes: 20 nCPM
- podocytes: 19 nCPM
- renal collecting duct intercalated cells: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 0.2 nTPM
- hypothalamus: 0.1 nTPM
- medulla oblongata: 0.1 nTPM
- midbrain: 0.1 nTPM
- pons: 0.1 nTPM
- thalamus: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about C9.
Disease | AllUniProt
Conditions C9 is implicated in, by any mechanism.
- Complement component 9 deficiency (C9D) MIM:613825
- Macular degeneration, age-related, 15 (ARMD15) MIM:615591
Disease | GeneticClinVar
47 pathogenic / likely-pathogenic of 429 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complement component 9 deficiency
- Age related macular degeneration 15
- C9-related disorder
- Gastric cancer
- Thyroid cancer, nonmedullary, 1
Disease | ImmuneIEDB
Conditions an epitope on C9 was assayed in.
- rheumatoid arthritis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.51
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.59
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell killing
- complement activation
- complement activation, alternative pathway
- complement activation, classical pathway
- complement activation, GZMK pathway
- killing of cells of another organism
- positive regulation of immune response
- protein homooligomerization
- transmembrane transport
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thrombospondin type-1 (TSP1) repeat
- Membrane attack complex component/perforin/complement C9
- Low-density lipoprotein (LDL) receptor class A repeat
- Growth factor receptor cysteine-rich domain superfamily
- Membrane attack complex component/perforin domain, conserved site
- Membrane attack complex component/perforin (MACPF) domain
- Low-density lipoprotein (LDL) receptor class A, conserved site
- LDL receptor-like superfamily
- Thrombospondin type-1 repeat superfamily
- Low-density lipoprotein receptor domain class A
- Thrombospondin type 1 domain
- MAC/Perforin domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads C9 as an antibody target. Whether an autoantibody or antibody against C9 could matter depends on whether native C9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
C9 is annotated at the cell surface, where native C9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label C9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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