C9 complement component 9 [Homo sapiens] - Gene

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Summary

Official Symbol: C9provided by HGNC
Official Full Name: complement component 9provided by HGNC
Primary source: HGNC:1358
See related: Ensembl:ENSG00000113600; HPRD:00408; MIM:120940; Vega:OTTHUMG00000094767
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

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Genomic context

Location :: 5p14-p12

Sequence :: Chromosome: 5; NC_000005.9 (39284377..39364655, complement)

See C9 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

It was concluded that variations in the complement component 9 gene are unlikely to influence clearance of chronic hepatitis B virus infection and hepatocellular carcinoma occurrence.
Title: Genetic analysis of complement component 9 (C9) polymorphisms with clearance of hepatitis B virus infection.
Mapping the intermedilysin-human CD59 receptor interface reveals a deep correspondence with the binding site on CD59 for complement binding proteins C8alpha and C9.
Title: Mapping the intermedilysin-human CD59 receptor interface reveals a deep correspondence with the binding site on CD59 for complement binding proteins C8alpha and C9.
These results suggested that the lack of membrane attack complex because of an Arg95Stop mutation of the complement component 9 gene predisposed patients to pathognomonic glomerulonephritis.
Title: Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Complement C5b-9 induce a JNK/Bid-dependent and JNK-independent necrotic cell death.
Title: Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death.
Data show that C1q, C4, C3, and C9 bind to thrombin receptor-activating peptide-activated platelets in lepirudin-anticoagulated platelet-rich plasma (PRP) and whole blood.
Title: Complement component C3 binds to activated normal platelets without preceding proteolytic activation and promotes binding to complement receptor 1.
provided evidence for the recognition of membrane-bound C9 on complement-lysed ghosts by an antibody specific for the helix-turn-helix fold.
Title: Topology of the membrane-bound form of complement protein C9 probed by glycosylation mapping, anti-peptide antibody binding, and disulfide modification.
Data show that mortalin supports cancer cell resistance to complement-dependent cytotoxicity and suggest consideration of mortalin as a novel target for cancer adjuvant immunotherapy.
Title: Mortalin inhibitors sensitize K562 leukemia cells to complement-dependent cytotoxicity.
Cell cycle induction by C5b-9 in aortic endothelial cells is RGC-32 dependent and this is in part through regulation of Akt and growth factor release.
Title: Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

C9 deficiency with dermatomyositis

MIM: 613825

New loci associated with kidney function and chronic kidney disease.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	A synthetic peptide covering positions 233-251 of the HIV-1 gp120 protein binds to complement proteins C3, C4, C5, C9, and properdin	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P02748	P07357	C8A	HPRD	PubMed
P02748	P13987	CD59	HPRD	PubMed
P02748	P10909	CLU	HPRD	PubMed
BioGRID:107196	BioGRID:107404	CD59	BioGRID	PubMed	Reconstituted Complex
BioGRID:107196	BioGRID:107603	CLU	BioGRID	PubMed	Reconstituted Complex

Process	Evidence Code	Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA Inferred from Electronic Annotation more info
blood coagulation	IEA Inferred from Electronic Annotation more info
complement activation, alternative pathway	IEA Inferred from Electronic Annotation more info
complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
cytolysis	IEA Inferred from Electronic Annotation more info
hemolysis by symbiont of host erythrocytes	TAS Traceable Author Statement more info	PubMed
induction of apoptosis	IEA Inferred from Electronic Annotation more info
innate immune response	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane attack complex	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: complement component C9

Names: complement component C9

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009894.1 RefSeqGene

Range

5001..85279

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_32

mRNA and Protein(s)

NM_001737.3 → NP_001728.1 complement component C9 precursor

Status: REVIEWED

Source sequence(s)

BC020721, CB135741, CB157001, K02766

Consensus CDS

CCDS3929.1

UniProtKB/Swiss-Prot

P02748

Related

ENSP00000263408, OTTHUMP00000119994, ENST00000263408, OTTHUMT00000211576

Conserved Domains (3) summary

cd00112
Location:103 – 134
Blast Score: 127

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cl15278
Location:45 – 95
Blast Score: 85

TSP_1; Thrombospondin type 1 domain

cl02616
Location:294 – 503
Blast Score: 378

MACPF; MAC/Perforin domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

39284377..39364655, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

39235660..39316262, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008846.7 (46417..92462)	None
genomic	AC025471.6 (20261..53869)	None
genomic	AJ251818.1	CAB66087.1
genomic	CH471119.1	EAW55986.1
		EAW55987.1
		EAW55988.1
genomic	J02833.1	AAA51890.1
genomic	Y08545.1	CAA69849.1
mRNA	AK308045.1	None
mRNA	BC020721.1	AAH20721.1
mRNA	CB135741.1	None
mRNA	CB157001.1	None
mRNA	K02766.1	AAA51889.1
mRNA	X02176.1	CAA26117.1
other-genetic	DQ891410.2	ABM82336.1