C9 complement C9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C9provided by HGNC
Official Full Name: complement C9provided by HGNC
Primary source: HGNC:HGNC:1358
See related: Ensembl:ENSG00000113600 MIM:120940; AllianceGenome:HGNC:1358
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
Also known as: C9D; ARMD15
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]
Expression: Restricted expression toward liver (RPKM 365.0) See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (39284140..39364495, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (39533654..39614008, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (39284242..39364597, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis.
Title: Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis.
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
Title: The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
The function of adipsin and C9 protein in the complement system in HIV-associated preeclampsia.
Title: The function of adipsin and C9 protein in the complement system in HIV-associated preeclampsia.
Five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in age-related macular degeneration patients. Those genetic variants affect only the secretion and polymerization of C9, without influencing its classical lytic activity.
Title: Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.
The data supports the assumption that C9 gene expression may stimulate the expression of inflammatory (NLRP3) and angiogenic growth factors (VEGF) in retinal pigment epithelial cells.
Title: Osmotic and hypoxic induction of the complement factor C9 in cultured human retinal pigment epithelial cells: Regulation of VEGF and NLRP3 expression.
Serum-expressed apolipoprotein B-100 protein, C9 Complement, and gelsolin can be used for differential diagnosis of Barrertts esophagus and adenocarcinoma of esophagus.
Title: Serum Glycoprotein Biomarker Discovery and Qualification Pipeline Reveals Novel Diagnostic Biomarker Candidates for Esophageal Adenocarcinoma.
Patients with advanced atrophic AMD carried these rare variants more frequently than patients with neovascular AMD (11 of 93 [11.8%] vs 40 of 835 [4.8%]; P = .04).
Title: Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
Complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.
Title: Exposure to the complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis.
Data indicate that complement C9 binds to the ATPase domain of mortalin.
Title: Mortalin/GRP75 binds to complement C9 and plays a role in resistance to complement-dependent cytotoxicity.
Borrelial CspA binds the human terminal complement components C7 and C9 and blocks assembly and membrane insertion of the terminal complement complex (TCC).
Title: CspA from Borrelia burgdorferi inhibits the terminal complement pathway.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Age related macular degeneration 15 MedGen: C3810042 OMIM: 615591 GeneReviews: Not available	not available
Complement component 9 deficiency MedGen: C3151189 OMIM: 613825 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12573 (e-PCR)
- UniSTS:5904

D5S2371 (e-PCR)
- UniSTS:14135

STS-K02766 (e-PCR)
- UniSTS:63915

SGC33368 (e-PCR)
- UniSTS:40636

RH11647 (e-PCR)
- UniSTS:8644

SHGC-80007 (e-PCR)
- UniSTS:101629

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell killing	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, alternative pathway	IEA Inferred from Electronic Annotation more info
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of membrane attack complex	IBA Inferred from Biological aspect of Ancestor more info
part_of membrane attack complex	IDA Inferred from Direct Assay more info	PubMed
part_of membrane attack complex	IPI Inferred from Physical Interaction more info	PubMed
located_in other organism cell membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: complement component C9

Names: complement component 9

NCBI Reference Sequences (RefSeq)

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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_001737.5 → NP_001728.1 complement component C9 preproprotein

See identical proteins and their annotated locations for NP_001728.1

Status: REVIEWED

Source sequence(s)

AC025471, AW662752, BC020721, CB157001

Consensus CDS

CCDS3929.1

UniProtKB/Swiss-Prot

P02748

UniProtKB/TrEMBL

A0A8Q3SI95

Related

ENSP00000263408.4, ENST00000263408.5

Conserved Domains (3) summary

smart00209
Location:45 → 95

TSP1; Thrombospondin type 1 repeats

smart00457
Location:294 → 503

MACPF; membrane-attack complex / perforin

cd00112
Location:103 → 134

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 ...