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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

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