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

Gene ID: 50909, updated on 14-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
is_active_in blood microparticle IBA
Inferred from Biological aspect of Ancestor
more info
  
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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