UniProtKB - P10643 (CO7_HUMAN)
Protein
Complement component C7
Gene
C7
Organism
Homo sapiens (Human)
Status
Functioni
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.
GO - Biological processi
- cellular sodium ion homeostasis Source: Ensembl
- complement activation Source: ProtInc
- complement activation, alternative pathway Source: UniProtKB-KW
- complement activation, classical pathway Source: UniProtKB-KW
- cytolysis Source: UniProtKB-KW
- regulation of complement activation Source: Reactome
Keywordsi
Biological process | Complement alternate pathway, Complement pathway, Cytolysis, Immunity, Innate immunity |
Enzyme and pathway databases
PathwayCommonsi | P10643 |
Reactomei | R-HSA-166665, Terminal pathway of complement R-HSA-977606, Regulation of Complement cascade |
Names & Taxonomyi
Protein namesi | Recommended name: Complement component C7 |
Gene namesi | Name:C7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000112936.18 |
HGNCi | HGNC:1346, C7 |
MIMi | 217070, gene |
neXtProti | NX_P10643 |
Subcellular locationi
Extracellular region or secreted
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
Plasma Membrane
- membrane attack complex Source: UniProtKB
Keywords - Cellular componenti
Membrane attack complex, SecretedPathology & Biotechi
Involvement in diseasei
Complement component 7 deficiency (C7D)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012643 | 220 | R → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs369349760Ensembl. | 1 | |
Natural variantiVAR_012644 | 379 | G → R in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964921EnsemblClinVar. | 1 | |
Natural variantiVAR_012645 | 521 | R → S in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964920EnsemblClinVar. | 1 | |
Natural variantiVAR_012646 | 682 | E → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs541873000Ensembl. | 1 | |
Natural variantiVAR_012647 | 687 | R → H in C7D. 1 PublicationCorresponds to variant dbSNP:rs113187203Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 730 |
MalaCardsi | C7 |
MIMi | 610102, phenotype |
OpenTargetsi | ENSG00000112936 |
Orphaneti | 169150, Immunodeficiency due to a late component of complement deficiency |
PharmGKBi | PA25941 |
Miscellaneous databases
Pharosi | P10643, Tbio |
Polymorphism and mutation databases
BioMutai | C7 |
DMDMi | 61252057 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Add BLAST | 22 | |
ChainiPRO_0000023583 | 23 – 843 | Complement component C7Add BLAST | 821 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 36 | C-linked (Man) tryptophan1 Publication | 1 | |
Disulfide bondi | 85 ↔ 96 | By similarity | ||
Disulfide bondi | 91 ↔ 109 | By similarity | ||
Disulfide bondi | 103 ↔ 119 | By similarity | ||
Disulfide bondi | 128 ↔ 165 | By similarity | ||
Glycosylationi | 202 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Disulfide bondi | 337 ↔ 353 | 1 Publication | ||
Glycosylationi | 503 | C-linked (Man) tryptophan; partial1 Publication | 1 | |
Glycosylationi | 506 | C-linked (Man) tryptophan; partial1 Publication | 1 | |
Glycosylationi | 509 | C-linked (Man) tryptophan; partial1 Publication | 1 | |
Disulfide bondi | 571 ↔ 613 | By similarity | ||
Disulfide bondi | 599 ↔ 626 | By similarity | ||
Disulfide bondi | 631 ↔ 673 | By similarity | ||
Disulfide bondi | 659 ↔ 688 | By similarity | ||
Glycosylationi | 696 | O-linked (GalNAc...) threonine1 Publication | 1 | |
Disulfide bondi | 702 ↔ 713 | 1 Publication | ||
Disulfide bondi | 715 ↔ 750 | 1 Publication | ||
Disulfide bondi | 721 ↔ 743 | 1 Publication | ||
Disulfide bondi | 728 ↔ 763 | 1 Publication | ||
Glycosylationi | 754 | N-linked (GlcNAc...) (complex) asparagine2 Publications | 1 | |
Disulfide bondi | 773 ↔ 782 | 1 Publication | ||
Disulfide bondi | 776 ↔ 789 | 1 Publication | ||
Disulfide bondi | 791 ↔ 825 | 1 Publication | ||
Disulfide bondi | 797 ↔ 818 | 1 Publication | ||
Disulfide bondi | 805 ↔ 838 | 1 Publication |
Post-translational modificationi
C7 has 28 disulfide bridges.
C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.5 Publications
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
CPTACi | non-CPTAC-2655 |
jPOSTi | P10643 |
MassIVEi | P10643 |
PaxDbi | P10643 |
PeptideAtlasi | P10643 |
PRIDEi | P10643 |
ProteomicsDBi | 52633 |
PTM databases
GlyConnecti | 807, 2 N-Linked glycans (2 sites), 1 O-Linked glycan (1 site) |
GlyGeni | P10643, 7 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | P10643 |
PhosphoSitePlusi | P10643 |
UniCarbKBi | P10643 |
Expressioni
Gene expression databases
Bgeei | ENSG00000112936, Expressed in adrenal cortex and 207 other tissues |
Genevisiblei | P10643, HS |
Organism-specific databases
HPAi | ENSG00000112936, Tissue enhanced (ovary) |
Interactioni
Subunit structurei
Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9.
Protein-protein interaction databases
BioGRIDi | 107191, 4 interactors |
IntActi | P10643, 4 interactors |
MINTi | P10643 |
STRINGi | 9606.ENSP00000322061 |
Miscellaneous databases
RNActi | P10643, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P10643 |
SMRi | P10643 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P10643 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 80 | TSP type-1 1PROSITE-ProRule annotationAdd BLAST | 54 | |
Domaini | 83 – 121 | LDL-receptor class APROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 124 – 456 | MACPFPROSITE-ProRule annotationAdd BLAST | 333 | |
Domaini | 457 – 487 | EGF-likeAdd BLAST | 31 | |
Domaini | 500 – 549 | TSP type-1 2PROSITE-ProRule annotationAdd BLAST | 50 | |
Domaini | 569 – 628 | Sushi 1PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 629 – 690 | Sushi 2PROSITE-ProRule annotationAdd BLAST | 62 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 545 – 615 | CCP 1Add BLAST | 71 | |
Regioni | 616 – 693 | CCP 2Add BLAST | 78 | |
Regioni | 695 – 770 | Factor I module (FIM) 1Add BLAST | 76 | |
Regioni | 771 – 843 | Factor I module (FIM) 2Add BLAST | 73 |
Sequence similaritiesi
Belongs to the complement C6/C7/C8/C9 family.Curated
Keywords - Domaini
EGF-like domain, Repeat, Signal, SushiPhylogenomic databases
eggNOGi | ENOG502QU3G, Eukaryota |
GeneTreei | ENSGT00940000156804 |
HOGENOMi | CLU_014082_0_0_1 |
InParanoidi | P10643 |
OMAi | CKLHVLH |
OrthoDBi | 100680at2759 |
PhylomeDBi | P10643 |
TreeFami | TF330498 |
Family and domain databases
CDDi | cd00033, CCP, 2 hits cd00112, LDLa, 1 hit |
Gene3Di | 2.20.100.10, 2 hits 4.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR037564, Complement_C7 IPR003884, FacI_MAC IPR040729, Kazal_3 IPR036055, LDL_receptor-like_sf IPR023415, LDLR_class-A_CS IPR002172, LDrepeatLR_classA_rpt IPR001862, MAC_perforin IPR020864, MACPF IPR020863, MACPF_CS IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
PANTHERi | PTHR45742:SF2, PTHR45742:SF2, 1 hit |
Pfami | View protein in Pfam PF18434, Kazal_3, 1 hit PF00057, Ldl_recept_a, 1 hit PF01823, MACPF, 1 hit PF00084, Sushi, 2 hits PF00090, TSP_1, 2 hits |
PRINTSi | PR00764, COMPLEMENTC9 |
SMARTi | View protein in SMART SM00032, CCP, 2 hits SM00057, FIMAC, 2 hits SM00192, LDLa, 1 hit SM00457, MACPF, 1 hit SM00209, TSP1, 2 hits |
SUPFAMi | SSF57535, SSF57535, 2 hits SSF82895, SSF82895, 2 hits |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 1 hit PS01186, EGF_2, 1 hit PS01209, LDLRA_1, 1 hit PS50068, LDLRA_2, 1 hit PS00279, MACPF_1, 1 hit PS51412, MACPF_2, 1 hit PS50923, SUSHI, 2 hits PS50092, TSP1, 2 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P10643-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKVISLFILV GFIGEFQSFS SASSPVNCQW DFYAPWSECN GCTKTQTRRR
60 70 80 90 100
SVAVYGQYGG QPCVGNAFET QSCEPTRGCP TEEGCGERFR CFSGQCISKS
110 120 130 140 150
LVCNGDSDCD EDSADEDRCE DSERRPSCDI DKPPPNIELT GNGYNELTGQ
160 170 180 190 200
FRNRVINTKS FGGQCRKVFS GDGKDFYRLS GNVLSYTFQV KINNDFNYEF
210 220 230 240 250
YNSTWSYVKH TSTEHTSSSR KRSFFRSSSS SSRSYTSHTN EIHKGKSYQL
260 270 280 290 300
LVVENTVEVA QFINNNPEFL QLAEPFWKEL SHLPSLYDYS AYRRLIDQYG
310 320 330 340 350
THYLQSGSLG GEYRVLFYVD SEKLKQNDFN SVEEKKCKSS GWHFVVKFSS
360 370 380 390 400
HGCKELENAL KAASGTQNNV LRGEPFIRGG GAGFISGLSY LELDNPAGNK
410 420 430 440 450
RRYSAWAESV TNLPQVIKQK LTPLYELVKE VPCASVKKLY LKWALEEYLD
460 470 480 490 500
EFDPCHCRPC QNGGLATVEG THCLCHCKPY TFGAACEQGV LVGNQAGGVD
510 520 530 540 550
GGWSCWSSWS PCVQGKKTRS RECNNPPPSG GGRSCVGETT ESTQCEDEEL
560 570 580 590 600
EHLRLLEPHC FPLSLVPTEF CPSPPALKDG FVQDEGTMFP VGKNVVYTCN
610 620 630 640 650
EGYSLIGNPV ARCGEDLRWL VGEMHCQKIA CVLPVLMDGI QSHPQKPFYT
660 670 680 690 700
VGEKVTVSCS GGMSLEGPSA FLCGSSLKWS PEMKNARCVQ KENPLTQAVP
710 720 730 740 750
KCQRWEKLQN SRCVCKMPYE CGPSLDVCAQ DERSKRILPL TVCKMHVLHC
760 770 780 790 800
QGRNYTLTGR DSCTLPASAE KACGACPLWG KCDAESSKCV CREASECEEE
810 820 830 840
GFSICVEVNG KEQTMSECEA GALRCRGQSI SVTSIRPCAA ETQ
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 18 | S → G in BAF83038 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 123 | E → G in BAF83038 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 152 | R → V in CAA60121 (PubMed:7730625).Curated | 1 | |
Sequence conflicti | 212 | S → P in BAF83038 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 821 – 822 | GA → AL in CAA60121 (PubMed:7730625).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050480 | 128 | C → R. Corresponds to variant dbSNP:rs2271708Ensembl. | 1 | |
Natural variantiVAR_012643 | 220 | R → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs369349760Ensembl. | 1 | |
Natural variantiVAR_081726 | 222 | R → H1 PublicationCorresponds to variant dbSNP:rs75345202Ensembl. | 1 | |
Natural variantiVAR_012644 | 379 | G → R in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964921EnsemblClinVar. | 1 | |
Natural variantiVAR_033798 | 389 | S → T Polymorphism; confirmed at protein level. 2 PublicationsCorresponds to variant dbSNP:rs1063499Ensembl. | 1 | |
Natural variantiVAR_022023 | 420 | K → Q. Corresponds to variant dbSNP:rs3792646Ensembl. | 1 | |
Natural variantiVAR_012645 | 521 | R → S in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964920EnsemblClinVar. | 1 | |
Natural variantiVAR_033799 | 587 | T → P Polymorphism; confirmed at protein level. 2 PublicationsCorresponds to variant dbSNP:rs13157656Ensembl. | 1 | |
Natural variantiVAR_012646 | 682 | E → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs541873000Ensembl. | 1 | |
Natural variantiVAR_012647 | 687 | R → H in C7D. 1 PublicationCorresponds to variant dbSNP:rs113187203Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03507 mRNA Translation: AAA51861.1 AK290349 mRNA Translation: BAF83038.1 BC063851 mRNA Translation: AAH63851.1 X86328 , X86329, X86330, X86331, X86332, X86333, X86334, X86335, X86336, X86337, X86338, X86339, X86340, X86341, X86342, X86343, X86344 Genomic DNA Translation: CAA60121.1 |
CCDSi | CCDS47201.1 |
PIRi | A27340 |
RefSeqi | NP_000578.2, NM_000587.3 |
Genome annotation databases
Ensembli | ENST00000313164; ENSP00000322061; ENSG00000112936 |
GeneIDi | 730 |
KEGGi | hsa:730 |
UCSCi | uc003jmh.5, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
C7base C7 mutation db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03507 mRNA Translation: AAA51861.1 AK290349 mRNA Translation: BAF83038.1 BC063851 mRNA Translation: AAH63851.1 X86328 , X86329, X86330, X86331, X86332, X86333, X86334, X86335, X86336, X86337, X86338, X86339, X86340, X86341, X86342, X86343, X86344 Genomic DNA Translation: CAA60121.1 |
CCDSi | CCDS47201.1 |
PIRi | A27340 |
RefSeqi | NP_000578.2, NM_000587.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2WCY | NMR | - | A | 693-843 | [»] | |
6H03 | electron microscopy | 5.60 | D | 23-843 | [»] | |
6H04 | electron microscopy | 5.60 | D | 23-843 | [»] | |
BMRBi | P10643 | |||||
SMRi | P10643 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107191, 4 interactors |
IntActi | P10643, 4 interactors |
MINTi | P10643 |
STRINGi | 9606.ENSP00000322061 |
PTM databases
GlyConnecti | 807, 2 N-Linked glycans (2 sites), 1 O-Linked glycan (1 site) |
GlyGeni | P10643, 7 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | P10643 |
PhosphoSitePlusi | P10643 |
UniCarbKBi | P10643 |
Polymorphism and mutation databases
BioMutai | C7 |
DMDMi | 61252057 |
Proteomic databases
CPTACi | non-CPTAC-2655 |
jPOSTi | P10643 |
MassIVEi | P10643 |
PaxDbi | P10643 |
PeptideAtlasi | P10643 |
PRIDEi | P10643 |
ProteomicsDBi | 52633 |
Protocols and materials databases
Antibodypediai | 709, 274 antibodies |
Genome annotation databases
Ensembli | ENST00000313164; ENSP00000322061; ENSG00000112936 |
GeneIDi | 730 |
KEGGi | hsa:730 |
UCSCi | uc003jmh.5, human |
Organism-specific databases
CTDi | 730 |
DisGeNETi | 730 |
EuPathDBi | HostDB:ENSG00000112936.18 |
GeneCardsi | C7 |
HGNCi | HGNC:1346, C7 |
HPAi | ENSG00000112936, Tissue enhanced (ovary) |
MalaCardsi | C7 |
MIMi | 217070, gene 610102, phenotype |
neXtProti | NX_P10643 |
OpenTargetsi | ENSG00000112936 |
Orphaneti | 169150, Immunodeficiency due to a late component of complement deficiency |
PharmGKBi | PA25941 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QU3G, Eukaryota |
GeneTreei | ENSGT00940000156804 |
HOGENOMi | CLU_014082_0_0_1 |
InParanoidi | P10643 |
OMAi | CKLHVLH |
OrthoDBi | 100680at2759 |
PhylomeDBi | P10643 |
TreeFami | TF330498 |
Enzyme and pathway databases
PathwayCommonsi | P10643 |
Reactomei | R-HSA-166665, Terminal pathway of complement R-HSA-977606, Regulation of Complement cascade |
Miscellaneous databases
BioGRID-ORCSi | 730, 1 hit in 846 CRISPR screens |
ChiTaRSi | C7, human |
EvolutionaryTracei | P10643 |
GenomeRNAii | 730 |
Pharosi | P10643, Tbio |
PROi | PR:P10643 |
RNActi | P10643, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112936, Expressed in adrenal cortex and 207 other tissues |
Genevisiblei | P10643, HS |
Family and domain databases
CDDi | cd00033, CCP, 2 hits cd00112, LDLa, 1 hit |
Gene3Di | 2.20.100.10, 2 hits 4.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR037564, Complement_C7 IPR003884, FacI_MAC IPR040729, Kazal_3 IPR036055, LDL_receptor-like_sf IPR023415, LDLR_class-A_CS IPR002172, LDrepeatLR_classA_rpt IPR001862, MAC_perforin IPR020864, MACPF IPR020863, MACPF_CS IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
PANTHERi | PTHR45742:SF2, PTHR45742:SF2, 1 hit |
Pfami | View protein in Pfam PF18434, Kazal_3, 1 hit PF00057, Ldl_recept_a, 1 hit PF01823, MACPF, 1 hit PF00084, Sushi, 2 hits PF00090, TSP_1, 2 hits |
PRINTSi | PR00764, COMPLEMENTC9 |
SMARTi | View protein in SMART SM00032, CCP, 2 hits SM00057, FIMAC, 2 hits SM00192, LDLa, 1 hit SM00457, MACPF, 1 hit SM00209, TSP1, 2 hits |
SUPFAMi | SSF57535, SSF57535, 2 hits SSF82895, SSF82895, 2 hits |
PROSITEi | View protein in PROSITE PS00022, EGF_1, 1 hit PS01186, EGF_2, 1 hit PS01209, LDLRA_1, 1 hit PS50068, LDLRA_2, 1 hit PS00279, MACPF_1, 1 hit PS51412, MACPF_2, 1 hit PS50923, SUSHI, 2 hits PS50092, TSP1, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CO7_HUMAN | |
Accessioni | P10643Primary (citable) accession number: P10643 Secondary accession number(s): A8K2T4, Q6P3T5, Q92489 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
Last sequence update: | March 15, 2005 | |
Last modified: | December 2, 2020 | |
This is version 207 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations