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    C1ra complement component 1, r subcomponent A [ Mus musculus (house mouse) ]

    Gene ID: 50909, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C1raprovided by MGI
    Official Full Name
    complement component 1, r subcomponent Aprovided by MGI
    Primary source
    MGI:MGI:1355313
    See related
    Ensembl:ENSMUSG00000055172 AllianceGenome:MGI:1355313
    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
    C1r; mC1rA
    Summary
    Predicted to enable several functions, including calcium ion binding activity; identical protein binding activity; and serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including adrenal gland; genitourinary system; hemolymphoid system gland; midbrain; and small intestine. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome periodontal type 1. Orthologous to human C1R (complement C1r). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in liver adult (RPKM 46.3), bladder adult (RPKM 39.1) and 19 other tissues See more
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    Genomic context

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    See C1ra in Genome Data Viewer
    Location:
    6 F2; 6 59.16 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (124489580..124500399)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (124512621..124523440)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene calsyntenin 3 Neighboring gene predicted gene, 44096 Neighboring gene complement component 1, r subcomponent-like Neighboring gene STARR-seq mESC enhancer starr_17296 Neighboring gene complement component 1, s subcomponent 1 Neighboring gene complement component 1, r subcomponent A pseudogene

    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 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 serine protease contributes to kidney fibrosis. Xavier S, et al. Am J Physiol Renal Physiol, 2019 Nov 1. PMID 31509012, Free PMC Article
    2. Identification of cDNA encoding a serine protease homologous to human complement C1r precursor from grafted mouse skin. Byun SJ, et al. J Invest Dermatol, 2001 Mar. PMID 11231310
    3. 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
    4. IFN-gamma upregulates expression of the mouse complement C1rA gene in keratinocytes via IFN-regulatory factor-1. Byun SJ, et al. J Invest Dermatol, 2007 May. PMID 17159910
    5. 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

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We conclude that IFN-gamma stimulates mC1rA gene expression via IRF-1 in mouse keratinocytes.
      Title: IFN-gamma upregulates expression of the mouse complement C1rA gene in keratinocytes via IFN-regulatory factor-1.
    2. This and C1s genes 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 (2) 
    • Targeted (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 calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables molecular sequestering activity 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
    		  
    involved_in zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in zymogen activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    complement C1r-A subcomponent
    Names
    complement component 1 subcomponent r-A
    complement component 1, r-A subcomponent
    NP_075632.3

    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_023143.3 → NP_075632.3  complement C1r-A subcomponent precursor

      See identical proteins and their annotated locations for NP_075632.3

      Status: VALIDATED

      Source sequence(s)
      AF148216, AI119268, AK019687, BY014972
      Consensus CDS
      CCDS20521.1
      UniProtKB/Swiss-Prot
      Q8CG16, Q99KI6, Q9ET60
      UniProtKB/TrEMBL
      Q566I6
      Related
      ENSMUSP00000063707.8, ENSMUST00000068593.9
      Conserved Domains (7) summary
      cd00033
      Location:375 → 446
      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:462 → 699
      Tryp_SPc; Trypsin-like serine protease
      smart00042
      Location:26 → 137
      CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
      cd00190
      Location:463 → 701
      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 ...
      pfam00084
      Location:308 → 370
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:192 → 301
      CUB; CUB domain
      pfam14670
      Location:160 → 188
      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
      124489580..124500399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CG16.1 GenPept UniProtKB/Swiss-Prot:Q8CG16

    Gene LinkOut

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