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Protein

Complement component C9

Gene

C9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. C9 is the pore-forming subunit of the MAC.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113600-MONOMER.
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

HGNCiHGNC:1358. C9.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • cytoplasm Source: HPA
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • integral component of plasma membrane Source: ProtInc
  • membrane attack complex Source: UniProtKB-KW
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Membrane attack complex, Secreted

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 rs121909593dbSNPEnsembl.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 rs34882957dbSNPEnsembl.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)1 Publication1
Glycosylationi51C-linked (Man); 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...)3 Publications1
Disulfide bondi380 ↔ 4051 Publication
Glycosylationi415N-linked (GlcNAc...) (complex)6 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.
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.

PTM databases

iPTMnetiP02748.
PhosphoSitePlusiP02748.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiENSG00000113600.
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.

Protein-protein interaction databases

BioGridi107196. 6 interactors.
DIPiDIP-1124N.
MINTiMINT-2800316.
STRINGi9606.ENSP00000263408.

Structurei

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...

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
Contains 1 EGF-like domain.Curated
Contains 1 LDL-receptor class A domain.PROSITE-ProRule annotation
Contains 1 MACPF domain.PROSITE-ProRule annotation
Contains 1 TSP type-1 domain.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

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

Family and domain databases

Gene3Di4.10.400.10. 1 hit.
InterProiIPR009030. Growth_fac_rcpt_.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR001862. MAC_perforin.
IPR020864. MACPF.
IPR020863. MACPF_CS.
IPR000884. TSP1_rpt.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 1 hit.
PF01823. MACPF. 1 hit.
PF00090. TSP_1. 1 hit.
[Graphical view]
PRINTSiPR00764. COMPLEMENTC9.
SMARTiSM00192. LDLa. 1 hit.
SM00457. MACPF. 1 hit.
SM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
SSF57424. SSF57424. 1 hit.
SSF82895. SSF82895. 1 hit.
PROSITEiPS00022. 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.
[Graphical view]

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 rs700233dbSNPEnsembl.1
Natural variantiVAR_012648119C → G in C9D. 1 PublicationCorresponds to variant rs121909593dbSNPEnsembl.1
Natural variantiVAR_050481127D → Y.Corresponds to variant rs696763dbSNPEnsembl.1
Natural variantiVAR_070940167P → S in ARMD15. 1 PublicationCorresponds to variant rs34882957dbSNPEnsembl.1
Natural variantiVAR_027651203I → V.Corresponds to variant rs13361416dbSNPEnsembl.1
Natural variantiVAR_033802279T → S.Corresponds to variant rs34625111dbSNPEnsembl.1
Natural variantiVAR_061503427S → T.Corresponds to variant rs34421659dbSNPEnsembl.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

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.
MINTiMINT-2800316.
STRINGi9606.ENSP00000263408.

PTM databases

iPTMnetiP02748.
PhosphoSitePlusiP02748.

Polymorphism and mutation databases

BioMutaiC9.
DMDMi1352108.

Proteomic databases

MaxQBiP02748.
PaxDbiP02748.
PeptideAtlasiP02748.
PRIDEiP02748.

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.
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.
OMAiSKNETYQ.
OrthoDBiEOG091G07LK.
PhylomeDBiP02748.
TreeFamiTF330498.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113600-MONOMER.
ReactomeiR-HSA-166665. Terminal pathway of complement.
R-HSA-977606. Regulation of Complement cascade.

Miscellaneous databases

ChiTaRSiC9. human.
GenomeRNAii735.
PROiP02748.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113600.
CleanExiHS_C9.
GenevisibleiP02748. HS.

Family and domain databases

Gene3Di4.10.400.10. 1 hit.
InterProiIPR009030. Growth_fac_rcpt_.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR001862. MAC_perforin.
IPR020864. MACPF.
IPR020863. MACPF_CS.
IPR000884. TSP1_rpt.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 1 hit.
PF01823. MACPF. 1 hit.
PF00090. TSP_1. 1 hit.
[Graphical view]
PRINTSiPR00764. COMPLEMENTC9.
SMARTiSM00192. LDLa. 1 hit.
SM00457. MACPF. 1 hit.
SM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
SSF57424. SSF57424. 1 hit.
SSF82895. SSF82895. 1 hit.
PROSITEiPS00022. 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.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCO9_HUMAN
AccessioniPrimary (citable) accession number: P02748
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: February 1, 1996
Last modified: November 30, 2016
This is version 178 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.