C7
entrez
730
canonical
uniprot
P10643
canonical
ensembl
ENSG00000112936
resolver
ensp
ENSP00000322061
resolver
ensp
ENSP00000512566
resolver
enst
ENST00000313164
resolver
enst
ENST00000696333
resolver
genesymbol
C7
resolver
hgnc
HGNC:1346
resolver
uniprot
A8K2T4
resolver
uniprot
D6R8Y6
resolver
uniprot
Q05CI3
resolver
uniprot
Q6P3T5
resolver
uniprot
Q92489
resolver
uniprot_entry
CO7_HUMAN
resolver
uniprot_entry
Q05CI3_HUMAN
resolver
uniprot_sec
A8K2T4
resolver
uniprot_sec
D6R8Y6
resolver
uniprot_sec
Q6P3T5
resolver
uniprot_sec
Q92489
resolver
activity_regulation
ACTIVITY REGULATION: Membrane attack complex (MAC) assembly is inhibited by CD59, thereby protecting self-cells from damage during complement activation (PubMed:36797260). MAC assembly is also inhibited by clusterin (CLU) chaperones that inhibit polymerization of C9 (PubMed:34667172). {ECO:0000269|PubMed:34667172, ECO:0000269|PubMed:36797260}.
uniprot
proteins
amino_acid_sequence
MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTKTQTRRRSVAVYGQYGGQPCVGNAFETQSCEPTRGCPTEEGCGERFRCFSGQCISKSLVCNGDSDCDEDSADEDRCEDSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKSFGGQCRKVFSGDGKDFYRLSGNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKRSFFRSSSSSSRSYTSHTNEIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELSHLPSLYDYSAYRRLIDQYGTHYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEEKKCKSSGWHFVVKFSSHGCKELENALKAASGTQNNVLRGEPFIRGGGAGFISGLSYLELDNPAGNKRRYSAWAESVTNLPQVIKQKLTPLYELVKEVPCASVKKLYLKWALEEYLDEFDPCHCRPCQNGGLATVEGTHCLCHCKPYTFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKKTRSRECNNPPPSGGGRSCVGETTESTQCEDEELEHLRLLEPHCFPLSLVPTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCNEGYSLIGNPVARCGEDLRWLVGEMHCQKIACVLPVLMDGIQSHPQKPFYTVGEKVTVSCSGGMSLEGPSAFLCGSSLKWSPEMKNARCVQKENPLTQAVPKCQRWEKLQNSRCVCKMPYECGPSLDVCAQDERSKRILPLTVCKMHVLHCQGRNYTLTGRDSCTLPASAEKACGACPLWGKCDAESSKCVCREASECEEEGFSICVEVNGKEQTMSECEAGALRCRGQSISVTSIRPCAAETQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:8871666, ECO:0000269|PubMed:9218625, ECO:0000269|PubMed:9856499}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis (PubMed:22832194, PubMed:26841837, PubMed:27052168, PubMed:30552328, PubMed:3335508). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:22832194, PubMed:30552328, PubMed:3335508, PubMed:39914456, PubMed:39814882). The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:22832194, PubMed:30552328, PubMed:3335508). C7 serves as a membrane anchor (PubMed:30552328). During MAC assembly, associates with C5b and C6 to form the C5b-7 complex, a key lipophilic precursor of the MAC complex, which associates with the outer leaflet and reduces the energy for membrane bending (PubMed:30552328, PubMed:32569291). {ECO:0000269|PubMed:22832194, ECO:0000269|PubMed:26841837, ECO:0000269|PubMed:27052168, ECO:0000269|PubMed:30552328, ECO:0000269|PubMed:32569291, ECO:0000269|PubMed:3335508, ECO:0000269|PubMed:39814882, ECO:0000269|PubMed:39914456}.
uniprot
proteins
mass_dalton
93518
uniprot
proteins
post_translational_modification
PTM: C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. {ECO:0000269|PubMed:10551839, ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:22171320}.
uniprot
proteins
protein_family
Complement C6/C7/C8/C9 family
uniprot
proteins
pubmed
10551839
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19419965
uniprot
proteins
pubmed
22028381
uniprot
proteins
pubmed
22171320
uniprot
proteins
pubmed
22832194
uniprot
proteins
pubmed
26841837
uniprot
proteins
pubmed
27052168
uniprot
proteins
pubmed
30552328
uniprot
proteins
pubmed
31061395
uniprot
proteins
pubmed
32569291
uniprot
proteins
pubmed
3335508
uniprot
proteins
pubmed
34667172
uniprot
proteins
pubmed
36797260
uniprot
proteins
pubmed
39814882
uniprot
proteins
pubmed
39914456
uniprot
proteins
pubmed
7730625
uniprot
proteins
pubmed
8871666
uniprot
proteins
pubmed
9218625
uniprot
proteins
pubmed
9856499
uniprot
proteins
sequence_length
843
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3335508}. Target cell membrane {ECO:0000269|PubMed:30552328, ECO:0000269|PubMed:31061395, ECO:0000269|PubMed:32569291}. Note=Secreted as soluble protein (PubMed:3335508). Inserts into the cell membrane of target cells (PubMed:30552328, PubMed:31061395). {ECO:0000269|PubMed:30552328, ECO:0000269|PubMed:31061395, ECO:0000269|PubMed:3335508}.
uniprot
proteins