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Protein

Complement component C9

Gene

C9

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 (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934).4 Publications

GO - Biological processi

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 C9
Cleaved into the following 2 chains:
Gene namesi
Name:C9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113600.10
HGNCiHGNC:1358 C9
MIMi120940 gene
neXtProtiNX_P02748

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei314 – 330Beta strandedSequence analysisAdd BLAST17
Transmembranei335 – 354Beta strandedSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane, Membrane attack complex, Secreted, Target cell membrane, Target membrane

Pathology & Biotechi

Involvement in diseasei

Complement component 9 deficiency (C9D)1 Publication
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. Some patients may develop dermatomyositis.
See also OMIM:613825
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012648119C → G in C9D. 1 PublicationCorresponds to variant dbSNP:rs121909593EnsemblClinVar.1
Macular degeneration, age-related, 15 (ARMD15)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:615591
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070940167P → S in ARMD15. 1 PublicationCorresponds to variant dbSNP:rs34882957EnsemblClinVar.1

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

DisGeNETi735
MalaCardsiC9
MIMi613825 phenotype
615591 phenotype
OpenTargetsiENSG00000113600
Orphaneti279 Age-related macular degeneration
169150 Immunodeficiency due to a late component of complements deficiency
PharmGKBiPA25968

Polymorphism and mutation databases

BioMutaiC9
DMDMi1352108

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 211 PublicationAdd BLAST21
ChainiPRO_000002360222 – 559Complement component C9Add BLAST538
ChainiPRO_000002360322 – 265Complement component C9aAdd BLAST244
ChainiPRO_0000023604266 – 559Complement component C9bAdd BLAST294

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi43 ↔ 781 Publication
Glycosylationi48C-linked (Man) tryptophan1 Publication1
Glycosylationi51C-linked (Man) tryptophan; partial1 Publication1
Disulfide bondi54 ↔ 571 Publication
Disulfide bondi88 ↔ 941 Publication
Disulfide bondi101 ↔ 1121 Publication
Disulfide bondi107 ↔ 1251 Publication
Disulfide bondi119 ↔ 1341 Publication
Disulfide bondi142 ↔ 1811 Publication
Disulfide bondi254 ↔ 2551 Publication
Glycosylationi277N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi380 ↔ 4051 Publication
Glycosylationi415N-linked (GlcNAc...) (complex) asparagine6 Publications1
Disulfide bondi510 ↔ 5261 Publication
Disulfide bondi513 ↔ 5281 Publication
Disulfide bondi530 ↔ 5391 Publication

Post-translational modificationi

Thrombin cleaves factor C9 to produce C9a and C9b.1 Publication
Phosphorylation sites are present in the extracellular medium.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei265 – 266Cleavage; by thrombin2

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP02748
PaxDbiP02748
PeptideAtlasiP02748
PRIDEiP02748
ProteomicsDBi51564

PTM databases

iPTMnetiP02748
PhosphoSitePlusiP02748

Expressioni

Tissue specificityi

Plasma (at protein level).4 Publications

Gene expression databases

BgeeiENSG00000113600 Expressed in 60 organ(s), highest expression level in liver
CleanExiHS_C9
GenevisibleiP02748 HS

Organism-specific databases

HPAiCAB002151
HPA029577

Interactioni

Subunit structurei

Component of the membrane attack complex (MAC). 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 (PubMed:22832194). About 20 C9 chains oligomerize to give rise to a huge beta-barrel that forms a 100 Angstrom diameter pore in target membranes (PubMed:26841934).2 Publications

Protein-protein interaction databases

BioGridi107196, 6 interactors
DIPiDIP-1124N
ELMiP02748
STRINGi9606.ENSP00000263408

Structurei

3D structure databases

ProteinModelPortaliP02748
SMRiP02748
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini42 – 95TSP type-1PROSITE-ProRule annotationAdd BLAST54
Domaini99 – 136LDL-receptor class APROSITE-ProRule annotationAdd BLAST38
Domaini138 – 509MACPFPROSITE-ProRule annotationAdd BLAST372
Domaini510 – 540EGF-likeAdd BLAST31

Sequence similaritiesi

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

Keywords - Domaini

EGF-like domain, Signal, Transmembrane, Transmembrane beta strand

Phylogenomic databases

eggNOGiENOG410IH3C Eukaryota
ENOG410XT9A LUCA
GeneTreeiENSGT00550000074478
HOGENOMiHOG000111869
HOVERGENiHBG106792
InParanoidiP02748
KOiK04000
OMAiGINILGM
OrthoDBiEOG091G07LK
PhylomeDBiP02748
TreeFamiTF330498

Family and domain databases

CDDicd00112 LDLa, 1 hit
Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR037567 Complement_C9
IPR009030 Growth_fac_rcpt_cys_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR001862 MAC_perforin
IPR020864 MACPF
IPR020863 MACPF_CS
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PANTHERiPTHR19325:SF362 PTHR19325:SF362, 1 hit
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF01823 MACPF, 1 hit
PF00090 TSP_1, 1 hit
PRINTSiPR00764 COMPLEMENTC9
SMARTiView protein in SMART
SM00192 LDLa, 1 hit
SM00457 MACPF, 1 hit
SM00209 TSP1, 1 hit
SUPFAMiSSF57184 SSF57184, 2 hits
SSF57424 SSF57424, 1 hit
SSF82895 SSF82895, 1 hit
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
PS50092 TSP1, 1 hit

Sequencei

Sequence statusi: Complete.

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

P02748-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSACRSFAVA ICILEISILT AQYTTSYDPE LTESSGSASH IDCRMSPWSE
60 70 80 90 100
WSQCDPCLRQ MFRSRSIEVF GQFNGKRCTD AVGDRRQCVP TEPCEDAEDD
110 120 130 140 150
CGNDFQCSTG RCIKMRLRCN GDNDCGDFSD EDDCESEPRP PCRDRVVEES
160 170 180 190 200
ELARTAGYGI NILGMDPLST PFDNEFYNGL CNRDRDGNTL TYYRRPWNVA
210 220 230 240 250
SLIYETKGEK NFRTEHYEEQ IEAFKSIIQE KTSNFNAAIS LKFTPTETNK
260 270 280 290 300
AEQCCEETAS SISLHGKGSF RFSYSKNETY QLFLSYSSKK EKMFLHVKGE
310 320 330 340 350
IHLGRFVMRN RDVVLTTTFV DDIKALPTTY EKGEYFAFLE TYGTHYSSSG
360 370 380 390 400
SLGGLYELIY VLDKASMKRK GVELKDIKRC LGYHLDVSLA FSEISVGAEF
410 420 430 440 450
NKDDCVKRGE GRAVNITSEN LIDDVVSLIR GGTRKYAFEL KEKLLRGTVI
460 470 480 490 500
DVTDFVNWAS SINDAPVLIS QKLSPIYNLV PVKMKNAHLK KQNLERAIED
510 520 530 540 550
YINEFSVRKC HTCQNGGTVI LMDGKCLCAC PFKFEGIACE ISKQKISEGL

PALEFPNEK
Length:559
Mass (Da):63,173
Last modified:February 1, 1996 - v2
Checksum:i7403F6AD77B3ECE1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti43C → R in AAA51889 (PubMed:6095282).Curated1
Sequence conflicti314Missing in AAA51889 (PubMed:6095282).Curated1
Sequence conflicti417T → P in AAA51889 (PubMed:6095282).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0220245R → W. Corresponds to variant dbSNP:rs700233EnsemblClinVar.1
Natural variantiVAR_012648119C → G in C9D. 1 PublicationCorresponds to variant dbSNP:rs121909593EnsemblClinVar.1
Natural variantiVAR_050481127D → Y. Corresponds to variant dbSNP:rs696763EnsemblClinVar.1
Natural variantiVAR_070940167P → S in ARMD15. 1 PublicationCorresponds to variant dbSNP:rs34882957EnsemblClinVar.1
Natural variantiVAR_027651203I → V. Corresponds to variant dbSNP:rs13361416Ensembl.1
Natural variantiVAR_033802279T → S. Corresponds to variant dbSNP:rs34625111Ensembl.1
Natural variantiVAR_061503427S → T. Corresponds to variant dbSNP:rs34421659Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02176 mRNA Translation: CAA26117.1
BC020721 mRNA Translation: AAH20721.1
K02766 mRNA Translation: AAA51889.1
J02833 Genomic DNA Translation: AAA51890.1
Y08545
, Y08546, Y08547, Y08548, Y08549, Y08550, Y08551, Y08552, Y08553, Y08554 Genomic DNA Translation: CAA69849.1
CCDSiCCDS3929.1
PIRiA59363 C9HU
RefSeqiNP_001728.1, NM_001737.4
UniGeneiHs.654443

Genome annotation databases

EnsembliENST00000263408; ENSP00000263408; ENSG00000113600
GeneIDi735
KEGGihsa:735
UCSCiuc003jlv.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

C9base

C9 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02176 mRNA Translation: CAA26117.1
BC020721 mRNA Translation: AAH20721.1
K02766 mRNA Translation: AAA51889.1
J02833 Genomic DNA Translation: AAA51890.1
Y08545
, Y08546, Y08547, Y08548, Y08549, Y08550, Y08551, Y08552, Y08553, Y08554 Genomic DNA Translation: CAA69849.1
CCDSiCCDS3929.1
PIRiA59363 C9HU
RefSeqiNP_001728.1, NM_001737.4
UniGeneiHs.654443

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FMWelectron microscopy6.70A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V39-544[»]
ProteinModelPortaliP02748
SMRiP02748
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107196, 6 interactors
DIPiDIP-1124N
ELMiP02748
STRINGi9606.ENSP00000263408

PTM databases

iPTMnetiP02748
PhosphoSitePlusiP02748

Polymorphism and mutation databases

BioMutaiC9
DMDMi1352108

Proteomic databases

MaxQBiP02748
PaxDbiP02748
PeptideAtlasiP02748
PRIDEiP02748
ProteomicsDBi51564

Protocols and materials databases

DNASUi735
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263408; ENSP00000263408; ENSG00000113600
GeneIDi735
KEGGihsa:735
UCSCiuc003jlv.5 human

Organism-specific databases

CTDi735
DisGeNETi735
EuPathDBiHostDB:ENSG00000113600.10
GeneCardsiC9
HGNCiHGNC:1358 C9
HPAiCAB002151
HPA029577
MalaCardsiC9
MIMi120940 gene
613825 phenotype
615591 phenotype
neXtProtiNX_P02748
OpenTargetsiENSG00000113600
Orphaneti279 Age-related macular degeneration
169150 Immunodeficiency due to a late component of complements deficiency
PharmGKBiPA25968
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH3C Eukaryota
ENOG410XT9A LUCA
GeneTreeiENSGT00550000074478
HOGENOMiHOG000111869
HOVERGENiHBG106792
InParanoidiP02748
KOiK04000
OMAiGINILGM
OrthoDBiEOG091G07LK
PhylomeDBiP02748
TreeFamiTF330498

Enzyme and pathway databases

ReactomeiR-HSA-166665 Terminal pathway of complement
R-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

ChiTaRSiC9 human
GenomeRNAii735
PROiPR:P02748
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113600 Expressed in 60 organ(s), highest expression level in liver
CleanExiHS_C9
GenevisibleiP02748 HS

Family and domain databases

CDDicd00112 LDLa, 1 hit
Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR037567 Complement_C9
IPR009030 Growth_fac_rcpt_cys_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR001862 MAC_perforin
IPR020864 MACPF
IPR020863 MACPF_CS
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PANTHERiPTHR19325:SF362 PTHR19325:SF362, 1 hit
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF01823 MACPF, 1 hit
PF00090 TSP_1, 1 hit
PRINTSiPR00764 COMPLEMENTC9
SMARTiView protein in SMART
SM00192 LDLa, 1 hit
SM00457 MACPF, 1 hit
SM00209 TSP1, 1 hit
SUPFAMiSSF57184 SSF57184, 2 hits
SSF57424 SSF57424, 1 hit
SSF82895 SSF82895, 1 hit
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
PS50092 TSP1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCO9_HUMAN
AccessioniPrimary (citable) accession number: P02748
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: February 1, 1996
Last modified: September 12, 2018
This is version 191 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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