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UniProtKB - P10643 (CO7_HUMAN)

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Protein

Complement component C7

Gene

C7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processComplement alternate pathway, Complement pathway, Cytolysis, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000112936.18
HGNCiHGNC:1346 C7
MIMi217070 gene
neXtProtiNX_P10643

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane attack complex, Secreted

Pathology & 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.
See also OMIM:610102
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012643220R → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs369349760Ensembl.1
Natural variantiVAR_012644379G → R in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964921EnsemblClinVar.1
Natural variantiVAR_012645521R → S in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964920EnsemblClinVar.1
Natural variantiVAR_012646682E → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs541873000Ensembl.1
Natural variantiVAR_012647687R → H in C7D. 1 PublicationCorresponds to variant dbSNP:rs113187203Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi730
MalaCardsiC7
MIMi610102 phenotype
OpenTargetsiENSG00000112936
Orphaneti169150 Immunodeficiency due to a late component of complements deficiency
PharmGKBiPA25941

Polymorphism and mutation databases

BioMutaiC7
DMDMi61252057

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Add BLAST22
ChainiPRO_000002358323 – 843Complement component C7Add BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi36C-linked (Man) tryptophan1 Publication1
Disulfide bondi85 ↔ 96By similarity
Disulfide bondi91 ↔ 109By similarity
Disulfide bondi103 ↔ 119By similarity
Disulfide bondi128 ↔ 165By similarity
Glycosylationi202N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi337 ↔ 3531 Publication
Glycosylationi503C-linked (Man) tryptophan; partial1 Publication1
Glycosylationi506C-linked (Man) tryptophan; partial1 Publication1
Glycosylationi509C-linked (Man) tryptophan; partial1 Publication1
Disulfide bondi571 ↔ 613By similarity
Disulfide bondi599 ↔ 626By similarity
Disulfide bondi631 ↔ 673By similarity
Disulfide bondi659 ↔ 688By similarity
Glycosylationi696O-linked (GalNAc...) threonine1 Publication1
Disulfide bondi702 ↔ 7131 Publication
Disulfide bondi715 ↔ 7501 Publication
Disulfide bondi721 ↔ 7431 Publication
Disulfide bondi728 ↔ 7631 Publication
Glycosylationi754N-linked (GlcNAc...) (complex) asparagine2 Publications1
Disulfide bondi773 ↔ 7821 Publication
Disulfide bondi776 ↔ 7891 Publication
Disulfide bondi791 ↔ 8251 Publication
Disulfide bondi797 ↔ 8181 Publication
Disulfide bondi805 ↔ 8381 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, Glycoprotein

Proteomic databases

PaxDbiP10643
PeptideAtlasiP10643
PRIDEiP10643
ProteomicsDBi52633

PTM databases

GlyConnecti807
iPTMnetiP10643
PhosphoSitePlusiP10643
UniCarbKBiP10643

Expressioni

Gene expression databases

BgeeiENSG00000112936
CleanExiHS_C7
GenevisibleiP10643 HS

Organism-specific databases

HPAiHPA001465

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

BioGridi107191, 4 interactors
CORUMiP10643
IntActiP10643, 3 interactors
MINTiP10643
STRINGi9606.ENSP00000322061

Structurei

Secondary structure

1843
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi706 – 709Combined sources4
Beta strandi712 – 715Combined sources4
Helixi718 – 720Combined sources3
Beta strandi726 – 731Combined sources6
Turni732 – 734Combined sources3
Beta strandi737 – 741Combined sources5
Helixi742 – 750Combined sources9
Beta strandi755 – 757Combined sources3
Beta strandi766 – 769Combined sources4
Beta strandi778 – 782Combined sources5
Beta strandi784 – 791Combined sources8
Helixi794 – 796Combined sources3
Beta strandi803 – 808Combined sources6
Beta strandi811 – 816Combined sources6
Helixi817 – 826Combined sources10
Beta strandi831 – 836Combined sources6

3D structure databases

ProteinModelPortaliP10643
SMRiP10643
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10643

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 80TSP type-1 1PROSITE-ProRule annotationAdd BLAST54
Domaini83 – 121LDL-receptor class APROSITE-ProRule annotationAdd BLAST39
Domaini124 – 456MACPFPROSITE-ProRule annotationAdd BLAST333
Domaini457 – 487EGF-likeAdd BLAST31
Domaini500 – 549TSP type-1 2PROSITE-ProRule annotationAdd BLAST50
Domaini569 – 628Sushi 1PROSITE-ProRule annotationAdd BLAST60
Domaini629 – 690Sushi 2PROSITE-ProRule annotationAdd BLAST62

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni545 – 615CCP 1Add BLAST71
Regioni616 – 693CCP 2Add BLAST78
Regioni695 – 770Factor I module (FIM) 1Add BLAST76
Regioni771 – 843Factor I module (FIM) 2Add BLAST73

Sequence similaritiesi

Belongs to the complement C6/C7/C8/C9 family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IDXP Eukaryota
ENOG410YJ70 LUCA
GeneTreeiENSGT00550000074478
HOGENOMiHOG000111868
HOVERGENiHBG005367
InParanoidiP10643
KOiK03996
OMAiNYEFYNS
OrthoDBiEOG091G07LK
PhylomeDBiP10643
TreeFamiTF330498

Family and domain databases

CDDicd00033 CCP, 2 hits
cd00112 LDLa, 1 hit
Gene3Di2.20.100.10, 2 hits
InterProiView protein in InterPro
IPR037564 Complement_C7
IPR003884 FacI_MAC
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
PANTHERiPTHR19325:SF389 PTHR19325:SF389, 1 hit
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF01823 MACPF, 1 hit
PF00084 Sushi, 2 hits
PF00090 TSP_1, 2 hits
PRINTSiPR00764 COMPLEMENTC9
SMARTiView protein in SMART
SM00032 CCP, 2 hits
SM00057 FIMAC, 2 hits
SM00192 LDLa, 1 hit
SM00457 MACPF, 1 hit
SM00209 TSP1, 2 hits
SUPFAMiSSF57535 SSF57535, 2 hits
SSF82895 SSF82895, 2 hits
PROSITEiView 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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P10643-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:843
Mass (Da):93,518
Last modified:March 15, 2005 - v2
Checksum:iDBD5D7C92DF71FA5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti152R → V in CAA60121 (PubMed:7730625).Curated1
Sequence conflicti821 – 822GA → AL (PubMed:7730625).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050480128C → R. Corresponds to variant dbSNP:rs2271708Ensembl.1
Natural variantiVAR_012643220R → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs369349760Ensembl.1
Natural variantiVAR_012644379G → R in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964921EnsemblClinVar.1
Natural variantiVAR_033798389S → T Polymorphism; confirmed at protein level. 2 PublicationsCorresponds to variant dbSNP:rs1063499Ensembl.1
Natural variantiVAR_022023420K → Q. Corresponds to variant dbSNP:rs3792646Ensembl.1
Natural variantiVAR_012645521R → S in C7D. 1 PublicationCorresponds to variant dbSNP:rs121964920EnsemblClinVar.1
Natural variantiVAR_033799587T → P Polymorphism; confirmed at protein level. 2 PublicationsCorresponds to variant dbSNP:rs13157656Ensembl.1
Natural variantiVAR_012646682E → Q in C7D. 1 PublicationCorresponds to variant dbSNP:rs541873000Ensembl.1
Natural variantiVAR_012647687R → 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
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
CCDSiCCDS47201.1
PIRiA27340
RefSeqiNP_000578.2, NM_000587.3
UniGeneiHs.669878
Hs.78065

Genome annotation databases

EnsembliENST00000313164; ENSP00000322061; ENSG00000112936
GeneIDi730
KEGGihsa:730
UCSCiuc003jmh.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCO7_HUMAN
AccessioniPrimary (citable) accession number: P10643
Secondary accession number(s): Q6P3T5, Q92489
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: March 15, 2005
Last modified: June 20, 2018
This is version 189 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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