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    C1s2 complement component 1, s subcomponent 2 [ Mus musculus (house mouse) ]

    Gene ID: 317677, updated on 9-Dec-2024

    Summary

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    Official Symbol
    C1s2provided by MGI
    Official Full Name
    complement component 1, s subcomponent 2provided by MGI
    Primary source
    MGI:MGI:3644269
    See related
    Ensembl:ENSMUSG00000079343 AllianceGenome:MGI:3644269
    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
    Also known as
    C1sb; Gm5077; EG317677
    Summary
    Predicted to enable identical protein binding activity and serine-type endopeptidase activity. Predicted to be involved in complement activation, classical pathway; innate immune response; and proteolysis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome periodontal type 2. Orthologous to human C1S (complement C1s). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 8.1), bladder adult (RPKM 8.0) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See C1s2 in Genome Data Viewer
    Location:
    6 F2; 6 59.17 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (124601584..124613044, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (124624625..124636085, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene complement component 1, r subcomponent A pseudogene Neighboring gene STARR-seq mESC enhancer starr_17298 Neighboring gene complement component 1, r subcomponent B Neighboring gene STARR-seq mESC enhancer starr_17299 Neighboring gene STARR-seq mESC enhancer starr_17300 Neighboring gene STARR-seq mESC enhancer starr_17301 Neighboring gene STARR-positive B cell enhancer ABC_E4861 Neighboring gene STARR-positive B cell enhancer ABC_E8129 Neighboring gene STARR-positive B cell enhancer ABC_E3681 Neighboring gene lysophosphatidylcholine acyltransferase 3 Neighboring gene STARR-positive B cell enhancer ABC_E1328 Neighboring gene EMG1 N1-specific pseudouridine methyltransferase

    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 C1r and C1s genes are duplicated in the mouse: differential expression generates alternative isomorphs in the liver and in the male reproductive system. Garnier G, et al. Biochem J, 2003 Apr 15. PMID 12513694, Free PMC Article
    2. Structure and activation of C1, the complex initiating the classical pathway of the complement cascade. Mortensen SA, et al. Proc Natl Acad Sci U S A, 2017 Jan 31. PMID 28104818, Free PMC Article
    3. Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2. Rossi V, et al. J Biol Chem, 2001 Nov 2. PMID 11527969
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    complement C1s-1 subcomponent
    Names
    C1 esterase
    complement C1s-B subcomponent
    complement component 1 subcomponent s-B
    complement component 1, s-B subcomponent
    complement component C1SB
    NP_776289.2

    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_173864.2 → NP_776289.2  complement C1s-1 subcomponent precursor

      See identical proteins and their annotated locations for NP_776289.2

      Status: VALIDATED

      Source sequence(s)
      AF459020
      Consensus CDS
      CCDS20522.2
      UniProtKB/Swiss-Prot
      Q8CFG8
      UniProtKB/TrEMBL
      A0A1W2P7F1
      Related
      ENSMUSP00000151642.2, ENSMUST00000218020.2
      Conserved Domains (6) summary
      cd00033
      Location:300 → 361
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00020
      Location:443 → 681
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:24 → 135
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:444 → 684
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00431
      Location:181 → 293
      CUB; CUB domain
      pfam14670
      Location:149 → 177
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      124601584..124613044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CFG8.1 GenPept UniProtKB/Swiss-Prot:Q8CFG8

    Gene LinkOut

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

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