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    C1s1 complement component 1, s subcomponent 1 [ Mus musculus (house mouse) ]

    Gene ID: 50908, updated on 8-Feb-2024

    Summary

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    Official Symbol
    C1s1provided by MGI
    Official Full Name
    complement component 1, s subcomponent 1provided by MGI
    Primary source
    MGI:MGI:1355312
    See related
    Ensembl:ENSMUSG00000038521 AllianceGenome:MGI:1355312
    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
    C1s; C1sa
    Summary
    Predicted to enable identical protein binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within complement activation, classical pathway and innate immune response. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in chondrocranium; liver lobe; renal calyx; and urogenital ridge. 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, Apr 2022]
    Expression
    Biased expression in bladder adult (RPKM 97.2), liver E18 (RPKM 57.1) and 14 other tissues See more
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    Genomic context

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    See C1s1 in Genome Data Viewer
    Location:
    6 F2; 6 59.17 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (124507303..124519340, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (124530344..124542392, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 44096 Neighboring gene complement component 1, r subcomponent-like Neighboring gene complement component 1, r subcomponent A Neighboring gene STARR-seq mESC enhancer starr_17296 Neighboring gene complement component 1, r subcomponent A pseudogene Neighboring gene complement component 1, r subcomponent B

    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. A novel PCR-based technique using expressed sequence tags and gene homology for murine genetic mapping: localization of the complement genes. Lawson PR, et al. Int Immunol, 2000 Mar. PMID 10700458
    3. 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
    4. 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
    5. UPF2 is a critical regulator of liver development, function and regeneration. Thoren LA, et al. PLoS One, 2010 Jul 19. PMID 20657840, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C1r and this gene are duplicated in mice; differential expression generates alternative isomorphs in the liver and in the male reproductive system.
      Title: Complement C1r and C1s genes are duplicated in the mouse: differential expression generates alternative isomorphs in the liver and in the male reproductive system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC37773, MGC132830

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in complement activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within complement activation, classical pathway 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 proteolysis 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 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-A subcomponent
    complement component 1 subcomponent s-A
    complement component C1SA
    serine protease
    NP_001091086.1
    NP_659187.2
    XP_006506428.1
    XP_011239706.1
    XP_011239707.1

    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_001097617.1 → NP_001091086.1  complement C1s-1 subcomponent precursor

      See identical proteins and their annotated locations for NP_001091086.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK087522, BB805732, BC111880, BY144429
      Consensus CDS
      CCDS51907.1
      UniProtKB/TrEMBL
      E9Q6C2, Q14DT6
      Related
      ENSMUSP00000125712.2, ENSMUST00000162443.8
      Conserved Domains (5) summary
      cd00033
      Location:307 → 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.
      pfam00431
      Location:181 → 293
      CUB; CUB domain
      pfam14670
      Location:149 → 177
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. NM_144938.2 → NP_659187.2  complement C1s-1 subcomponent precursor

      See identical proteins and their annotated locations for NP_659187.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK087522, BB805732, BC111880, BY110216
      Consensus CDS
      CCDS51907.1
      UniProtKB/TrEMBL
      E9Q6C2, Q14DT6
      Related
      ENSMUSP00000125531.2, ENSMUST00000160505.8
      Conserved Domains (5) summary
      cd00033
      Location:307 → 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.
      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
      124507303..124519340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011241405.3 → XP_011239707.1  complement C1s-1 subcomponent isoform X2

      UniProtKB/Swiss-Prot
      Q8BJC4, Q8CG14, Q8CH28, Q8VBY4
      Conserved Domains (5) summary
      cd00033
      Location:283 → 337
      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:419 → 657
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:2 → 111
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00431
      Location:157 → 269
      CUB; CUB domain
      pfam14670
      Location:125 → 153
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. XM_006506365.5 → XP_006506428.1  complement C1s-1 subcomponent isoform X1

      See identical proteins and their annotated locations for XP_006506428.1

      UniProtKB/TrEMBL
      E9Q6C2, Q14DT6
      Conserved Domains (5) summary
      cd00033
      Location:307 → 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.
      pfam00431
      Location:181 → 293
      CUB; CUB domain
      pfam14670
      Location:149 → 177
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    3. XM_011241404.4 → XP_011239706.1  complement C1s-1 subcomponent isoform X1

      See identical proteins and their annotated locations for XP_011239706.1

      UniProtKB/TrEMBL
      E9Q6C2, Q14DT6
      Conserved Domains (5) summary
      cd00033
      Location:307 → 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.
      pfam00431
      Location:181 → 293
      CUB; CUB domain
      pfam14670
      Location:149 → 177
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CG14.2 GenPept UniProtKB/Swiss-Prot:Q8CG14

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