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

    Gene ID: 317677, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 8.1), bladder adult (RPKM 8.0) and 18 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    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

    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_173864.2NP_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:300361
      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:443681
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:24135
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:444684
      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:181293
      CUB; CUB domain
      pfam14670
      Location:149177
      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)