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    C9 complement component 9 [ Mus musculus (house mouse) ]

    Gene ID: 12279, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C9provided by MGI
    Official Full Name
    complement component 9provided by MGI
    Primary source
    MGI:MGI:1098282
    See related
    Ensembl:ENSMUSG00000022149 AllianceGenome:MGI:1098282
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to be involved in blood coagulation; cell killing; and protein homooligomerization. Predicted to act upstream of or within complement activation, alternative pathway; complement activation, classical pathway; and cytolysis. Predicted to be located in extracellular space and plasma membrane. Predicted to be part of membrane attack complex. Is expressed in several structures, including brain; endocrine gland; genitourinary system; liver; and submandibular gland. Human ortholog(s) of this gene implicated in age related macular degeneration 15 and complement component 9 deficiency. Orthologous to human C9 (complement C9). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver adult (RPKM 20.8), placenta adult (RPKM 7.9) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 A1; 15 2.79 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (6474827..6528306)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (6445346..6498825)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene 16311 Neighboring gene disabled 2, mitogen-responsive phosphoprotein Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene Neighboring gene STARR-seq mESC enhancer starr_37861 Neighboring gene FYN binding protein 1 Neighboring gene STARR-seq mESC enhancer starr_37865 Neighboring gene predicted gene 2245 Neighboring gene STARR-seq mESC enhancer starr_37866 Neighboring gene prohibitin pseudogene Neighboring gene STARR-seq mESC enhancer starr_37870 Neighboring gene RPTOR independent companion of MTOR, complex 2 Neighboring gene predicted gene, 53882

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Complement-Mediated Activation of the NLRP3 Inflammasome and Its Inhibition by AAV-Mediated Delivery of CD59 in a Model of Uveitis. Kumar B, et al. Mol Ther, 2018 Jun 6. PMID 29678656, Free PMC Article
    2. Target deletion of complement component 9 attenuates antibody-mediated hemolysis and lipopolysaccharide (LPS)-induced acute shock in mice. Fu X, et al. Sci Rep, 2016 Jul 22. PMID 27444648, Free PMC Article
    3. Topological mapping of complement component C9 by recombinant DNA techniques suggests a novel mechanism for its insertion into target membranes. Stanley KK, et al. EMBO J, 1987 Jul. PMID 2443347, Free PMC Article
    4. Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. Qiu C, et al. Nat Med, 2018 Nov. PMID 30275566, Free PMC Article
    5. The first transmembrane region of complement component-9 acts as a brake on its self-assembly. Spicer BA, et al. Nat Commun, 2018 Aug 15. PMID 30111885, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results determined the 2.2 A crystal structure of monomeric Complement component 9 (C9) and the 3.9 A resolution cryoelectron microscopy structure of C9 in a polymeric assembly.
      Title: The first transmembrane region of complement component-9 acts as a brake on its self-assembly.
    2. these results not only confirm the critical role of C5b-9 in complement-mediated hemolysis and but also highlight the critical role of C5b-9 in inflammasome activation.
      Title: Target deletion of complement component 9 attenuates antibody-mediated hemolysis and lipopolysaccharide (LPS)-induced acute shock in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (5)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cell killing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of membrane attack complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of membrane attack complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in other organism cell membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement component C9

    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.

    mRNA and Protein(s)

    1. NM_001368420.1 → NP_001355349.1  complement component C9 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC105324, AC161196
      UniProtKB/TrEMBL
      A0A0R4J032
      Conserved Domains (3) summary
      smart00209
      Location:43 → 93
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:292 → 475
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:101 → 132
      Ldl_recept_a; Low-density lipoprotein receptor domain class A

    2. NM_001368421.1 → NP_001355350.1  complement component C9 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC105324, AC161196
      UniProtKB/TrEMBL
      A0A0R4J032
      Conserved Domains (3) summary
      smart00209
      Location:1 → 51
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:250 → 464
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:59 → 90
      Ldl_recept_a; Low-density lipoprotein receptor domain class A

    3. NM_013485.3 → NP_038513.2  complement component C9 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC105324, AC161196
      Consensus CDS
      CCDS27367.1
      UniProtKB/Swiss-Prot
      P06683, Q91XA7
      UniProtKB/TrEMBL
      A0A0R4J032
      Related
      ENSMUSP00000022749.11, ENSMUST00000022749.17
      Conserved Domains (3) summary
      smart00209
      Location:43 → 93
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:292 → 506
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:101 → 132
      Ldl_recept_a; Low-density lipoprotein receptor domain class A

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      6474827..6528306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P06683.2 GenPept UniProtKB/Swiss-Prot:P06683

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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