C7

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]

Description

Complement C7

Tissue specificity

Tissue enhanced (ovary)

Predicted location

Secreted to blood

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (40909497 - 40984643)

Ensembl ID

ENSG00000112936  (ver. 103.38)

Orthologs

Mouse C7: ENSMUSG00000079105

UniProt

P10643

neXtProt

NX_P10643

Human splice variants
Mouse splice variants

Protein structure