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C9 complement component 9 [ Homo sapiens (human) ]

Gene ID: 735, updated on 6-Jul-2014
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
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]
Location:
5p14-p12
Exon count :
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (39284275..39364553, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (39284377..39364655, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RPTOR independent companion of MTOR, complex 2 Neighboring gene FYN binding protein Neighboring gene golgin A5 pseudogene 1 Neighboring gene Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) Neighboring gene uncharacterized LOC101926921

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Complement component 9 deficiency
MedGen: C3151189 OMIM: 613825 GeneReviews: Not available
not available
MACULAR DEGENERATION, AGE-RELATED, 15
MedGen: CN183070 OMIM: 615591 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

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

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Complement Activation, Classical Pathway, organism-specific biosystem (from WikiPathways)
    Complement Activation, Classical Pathway, organism-specific biosystemThe complement system is a biochemical cascade that helps, or ???complements???, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immun...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Prion diseases, organism-specific biosystem (from KEGG)
    Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Prion diseases, conserved biosystem (from KEGG)
    Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Terminal pathway of complement, organism-specific biosystem (from REACTOME)
    Terminal pathway of complement, organism-specific biosystemAfter cleavage of C5, C5b undergoes conformational changes and exposes a binding site for C6. C5b6 binds C7 resulting in the exposure of membrane binding sites and incorporation into target membranes...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: DAB2

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
hemolysis by symbiont of host erythrocytes TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane attack complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
complement component C9
Names
complement component C9

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

  1. NG_009894.1 

    Range
    5001..85279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_32

mRNA and Protein(s)

  1. NM_001737.3NP_001728.1  complement component C9 precursor

    See proteins identical to NP_001728.1

    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
    smart00209
    Location:4595
    Blast Score: 88
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:294503
    Blast Score: 492
    MACPF; membrane-attack complex / perforin
    cd00112
    Location:103134
    Blast Score: 137
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    39284275..39364553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    39235660..39316262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    39286294..39366561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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