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    C9 complement C9 [ Homo sapiens (human) ]

    Gene ID: 735, updated on 15-Jun-2019

    Summary

    Official Symbol
    C9provided by HGNC
    Official Full Name
    complement C9provided by HGNC
    Primary source
    HGNC:HGNC:1358
    See related
    Ensembl:ENSG00000113600 MIM:120940
    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

    Genomic context

    Location:
    5p13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (39284144..39364560, 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 androgen induced 1 pseudogene 1 Neighboring gene FYN binding protein 1 Neighboring gene golgin A5 pseudogene 1 Neighboring gene DAB adaptor protein 2 Neighboring gene uncharacterized LOC112267931

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Complement component 9 deficiency
    MedGen: C3151189 OMIM: 613825 GeneReviews: Not available
    Compare labs
    Macular degeneration, age-related, 15
    MedGen: C3810042 OMIM: 615591 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • 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, organism-specific biosystem (from WikiPathways)
      Complement Activation, 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 immune syst...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DAB2

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell killing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane attack complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    other organism cell membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    complement component C9
    Names
    complement component 9

    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

    1. NG_009894.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001737.5NP_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
      Related
      ENSP00000263408.4, ENST00000263408.5
      Conserved Domains (3) summary
      smart00209
      Location:4595
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:294503
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:103134
      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 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      39284140..39364495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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