C7

Protein identityUniProt · HPA

UniProt accession

P10643

Gene

C7

Ensembl

ENSG00000112936

Chromosome

5

Canonical length

843 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

Canonical amino-acid sequenceUniProt

843 residues, UniProt reviewed canonical sequence.

>P10643|C7
     1  MKVISLFILV GFIGEFQSFS SASSPVNCQW DFYAPWSECN GCTKTQTRRR SVAVYGQYGG
    61  QPCVGNAFET QSCEPTRGCP TEEGCGERFR CFSGQCISKS LVCNGDSDCD EDSADEDRCE
   121  DSERRPSCDI DKPPPNIELT GNGYNELTGQ FRNRVINTKS FGGQCRKVFS GDGKDFYRLS
   181  GNVLSYTFQV KINNDFNYEF YNSTWSYVKH TSTEHTSSSR KRSFFRSSSS SSRSYTSHTN
   241  EIHKGKSYQL LVVENTVEVA QFINNNPEFL QLAEPFWKEL SHLPSLYDYS AYRRLIDQYG
   301  THYLQSGSLG GEYRVLFYVD SEKLKQNDFN SVEEKKCKSS GWHFVVKFSS HGCKELENAL
   361  KAASGTQNNV LRGEPFIRGG GAGFISGLSY LELDNPAGNK RRYSAWAESV TNLPQVIKQK
   421  LTPLYELVKE VPCASVKKLY LKWALEEYLD EFDPCHCRPC QNGGLATVEG THCLCHCKPY
   481  TFGAACEQGV LVGNQAGGVD GGWSCWSSWS PCVQGKKTRS RECNNPPPSG GGRSCVGETT
   541  ESTQCEDEEL EHLRLLEPHC FPLSLVPTEF CPSPPALKDG FVQDEGTMFP VGKNVVYTCN
   601  EGYSLIGNPV ARCGEDLRWL VGEMHCQKIA CVLPVLMDGI QSHPQKPFYT VGEKVTVSCS
   661  GGMSLEGPSA FLCGSSLKWS PEMKNARCVQ KENPLTQAVP KCQRWEKLQN SRCVCKMPYE
   721  CGPSLDVCAQ DERSKRILPL TVCKMHVLHC QGRNYTLTGR DSCTLPASAE KACGACPLWG
   781  KCDAESSKCV CREASECEEE GFSICVEVNG KEQTMSECEA GALRCRGQSI SVTSIRPCAA
   841  ETQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C7 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

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

861 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C7.

Disease | AllUniProt

Conditions C7 is implicated in, by any mechanism.

• Complement component 7 deficiency (C7D) MIM:610102

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 685 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Complement component 7 deficiency
• C7-related disorder

Disease | ImmuneIEDB

Conditions an epitope on C7 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)

0.9

gnomAD pLI

0

gnomAD missense Z

-0.64

DepMap mean gene effect

0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 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
• transmembrane transport

Cellular components

• extracellular exosome
• extracellular region
• extracellular space
• membrane attack complex
• other organism cell membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Sushi/SCR/CCP domain
• Thrombospondin type-1 (TSP1) repeat
• Membrane attack complex component/perforin/complement C9
• Low-density lipoprotein (LDL) receptor class A repeat
• Factor I / membrane attack complex
• Membrane attack complex component/perforin domain, conserved site
• Membrane attack complex component/perforin (MACPF) domain
• Low-density lipoprotein (LDL) receptor class A, conserved site
• Sushi/SCR/CCP superfamily
• LDL receptor-like superfamily
• Thrombospondin type-1 repeat superfamily
• Low-density lipoprotein receptor domain class A
• Sushi repeat (SCR repeat)
• Thrombospondin type 1 domain
• MAC/Perforin domain
• Kazal-type serine protease inhibitor domain
• Complement component C7, Kazal domain
• Complement component C7, FIM2 N-terminal domain
• Kazal-type serine protease inhibitor domain
• Complement component C7, FIM2 N-terminal
• Complement component C7, Kazal domain

KeywordsUniProt

• Complement alternate pathway
• Complement pathway
• Cytolysis
• Disulfide bond
• EGF-like domain
• Glycoprotein
• Immunity
• Innate immunity
• Membrane
• Membrane attack complex
• Repeat
• Secreted
• Signal
• Sushi
• Target cell membrane
• Target membrane