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    C6 complement component 6 [ Mus musculus (house mouse) ]

    Gene ID: 12274, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C6provided by MGI
    Official Full Name
    complement component 6provided by MGI
    Primary source
    MGI:MGI:88233
    See related
    Ensembl:ENSMUSG00000022181 AllianceGenome:MGI:88233
    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
    Acts upstream of or within in utero embryonic development. Predicted to be part of membrane attack complex. Predicted to be active in extracellular space. Is expressed in embryo. Human ortholog(s) of this gene implicated in complement component 6 deficiency. Orthologous to human C6 (complement C6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung adult (RPKM 5.0), subcutaneous fat pad adult (RPKM 4.2) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 A1; 15 1.97 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (4756550..4833527)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (4727067..4804045)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene 3-oxoacid CoA transferase 1 antisense RNA Neighboring gene 3-oxoacid CoA transferase 1 Neighboring gene STARR-seq mESC enhancer starr_37822 Neighboring gene STARR-seq mESC enhancer starr_37823 Neighboring gene STARR-seq mESC enhancer starr_37824 Neighboring gene STARR-seq mESC enhancer starr_37825 Neighboring gene STARR-seq mESC enhancer starr_37827 Neighboring gene STARR-seq mESC enhancer starr_37828 Neighboring gene phosphatidylinositol-specific phospholipase C, X domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_37829 Neighboring gene STARR-seq mESC enhancer starr_37830 Neighboring gene STARR-seq mESC enhancer starr_37831 Neighboring gene STARR-seq mESC enhancer starr_37832 Neighboring gene STARR-seq mESC enhancer starr_37833 Neighboring gene STARR-seq mESC enhancer starr_37834 Neighboring gene STARR-seq mESC enhancer starr_37835 Neighboring gene STARR-seq mESC enhancer starr_37836 Neighboring gene STARR-seq mESC enhancer starr_37837 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene maestro heat-like repeat family member 2B

    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. Allotypes of mouse complement component C6 in inbred strains and some wild populations. Orren A, et al. Immunogenetics, 1988. PMID 3410507
    2. Genetically determined molecular weight differences in murine complement component C6. Orren A, et al. Eur J Immunol, 1985 Jan. PMID 3967681
    3. Requirement of Complement C6 for Intact Innate Immune Responses in Mice. Fattahi F, et al. J Immunol, 2020 Jul 1. PMID 32444389
    4. Development and characterization of novel anti-C5 monoclonal antibodies capable of inhibiting complement in multiple species. Zelek WM, et al. Immunology, 2019 Aug. PMID 31120547, Free PMC Article
    5. Genetic polymorphism of the sixth component of complement (C6) in mice. Hayakawa JI, et al. Immunogenetics, 1984. PMID 6510993

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Requirement of Complement C6 for Intact Innate Immune Responses in Mice.
      Title: Requirement of Complement C6 for Intact Innate Immune Responses in Mice.
    2. These data indicate that the C6 component of the complement system mediates antiphospholipid antibodies-thrombogenic effects
      Title: C6 knock-out mice are protected from thrombophilia mediated by antiphospholipid antibodies.
    3. Clinical disease activity in C3aR(-/-), C5aR(-/-), and C6-deficient (C6-def) mice was decreased by 52, 94, and 65%, respectively, as compared with wild-type mice.
      Title: Role of C3a receptors, C5a receptors, and complement protein C6 deficiency in collagen antibody-induced arthritis in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Spontaneous (1) 
    • Targeted (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in complement activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    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
    		  

    General protein information

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    Preferred Names
    complement component C6

    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_016704.2 → NP_057913.2  complement component C6 precursor

      See identical proteins and their annotated locations for NP_057913.2

      Status: VALIDATED

      Source sequence(s)
      AA212862, AC117588, BB222000, BX515704, BY088427, BY105449, CB948485
      Consensus CDS
      CCDS37025.1
      UniProtKB/TrEMBL
      Q91X70, Q9QXT7
      Related
      ENSMUSP00000124417.2, ENSMUST00000162585.8
      Conserved Domains (5) summary
      cd00033
      Location:644 → 700
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00209
      Location:568 → 614
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:313 → 514
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:142 → 173
      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 ...
      cl15278
      Location:85 → 128
      TSP_1; Thrombospondin type 1 domain

    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
      4756550..4833527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519959.4 → XP_006520022.1  complement component C6 isoform X2

      Conserved Domains (4) summary
      smart00209
      Location:26 → 79
      TSP1; Thrombospondin type 1 repeats
      cd00112
      Location:142 → 173
      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 ...
      cl02616
      Location:313 → 429
      MACPF; MAC/Perforin domain
      cl15278
      Location:85 → 133
      TSP_1; Thrombospondin type 1 domain

    2. XM_006519958.1 → XP_006520021.1  complement component C6 isoform X1

      See identical proteins and their annotated locations for XP_006520021.1

      UniProtKB/TrEMBL
      Q9QXT7
      Conserved Domains (6) summary
      cd00033
      Location:644 → 700
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02831
      Location:641 → 755
      PHA02831; EEV host range protein; Provisional
      smart00209
      Location:568 → 614
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:313 → 514
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:142 → 173
      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 ...
      cl15278
      Location:85 → 133
      TSP_1; Thrombospondin type 1 domain

    3. XM_006519957.4 → XP_006520020.1  complement component C6 isoform X1

      See identical proteins and their annotated locations for XP_006520020.1

      UniProtKB/TrEMBL
      Q9QXT7
      Conserved Domains (6) summary
      cd00033
      Location:644 → 700
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02831
      Location:641 → 755
      PHA02831; EEV host range protein; Provisional
      smart00209
      Location:568 → 614
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:313 → 514
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:142 → 173
      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 ...
      cl15278
      Location:85 → 133
      TSP_1; Thrombospondin type 1 domain
    Nucleotide Protein Strain
    Heading Accession and Version

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