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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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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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