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    C3 complement component 3 [ Mus musculus (house mouse) ]

    Gene ID: 12266, updated on 16-Apr-2024

    Summary

    Official Symbol
    C3provided by MGI
    Official Full Name
    complement component 3provided by MGI
    Primary source
    MGI:MGI:88227
    See related
    Ensembl:ENSMUSG00000024164 AllianceGenome:MGI:88227
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ASP; Plp; HSE-MSF
    Summary
    This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
    Expression
    Biased expression in liver adult (RPKM 1553.9), liver E18 (RPKM 781.1) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    17 D; 17 29.72 cM
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (57510967..57535136, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (57203967..57228136, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33566 Neighboring gene CD70 antigen Neighboring gene tumor necrosis factor (ligand) superfamily, member 14 Neighboring gene STARR-positive B cell enhancer ABC_E8688 Neighboring gene microRNA 6978 Neighboring gene thyroid hormone receptor interactor 10 Neighboring gene G protein-coupled receptor 108 Neighboring gene STARR-positive B cell enhancer ABC_E54 Neighboring gene STARR-positive B cell enhancer ABC_E8689 Neighboring gene STARR-positive B cell enhancer ABC_E615 Neighboring gene SH2 domain containing 3A pseudogene

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables C5L2 anaphylatoxin chemotactic receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta clearance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amyloid-beta clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within complement activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within complement activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in complement activation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement receptor mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within complement-dependent cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in complement-mediated synapse pruning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within fatty acid metabolic process 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 inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response 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 lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within oviduct epithelium development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of activation of membrane attack complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic cell clearance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of developmental growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of glucose transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of lipid storage ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phagocytosis, engulfment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of phagocytosis, engulfment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of type IIa hypersensitivity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular endothelial growth factor production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of triglyceride biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to bacterium IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within vascular associated smooth muscle cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in vertebrate eye-specific patterning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    complement C3
    Names
    acylation stimulating protein
    complement component 3d
    complement factor 3
    NP_033908.2
    XP_011244560.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009778.3NP_033908.2  complement C3 preproprotein

      See identical proteins and their annotated locations for NP_033908.2

      Status: REVIEWED

      Source sequence(s)
      CT025692
      Consensus CDS
      CCDS37670.1
      UniProtKB/Swiss-Prot
      P01027, Q61370, Q80XP1
      Related
      ENSMUSP00000024988.9, ENSMUST00000024988.15
      Conserved Domains (8) summary
      cd00017
      Location:678747
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cd02896
      Location:9961282
      complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...
      cd03583
      Location:15131661
      NTR_complement_C3; NTR/C345C domain, complement C3 subfamily; The NTR domain found in complement C3 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C3 plays a pivotal role in the activation of the complement ...
      pfam00207
      Location:770866
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:130225
      A2M_N; MG2 domain
      pfam07677
      Location:13981493
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:10511282
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:458603
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      57510967..57535136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246258.2XP_011244560.1  complement C3 isoform X1

      Conserved Domains (4) summary
      cd02896
      Location:261547
      complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...
      cd03583
      Location:778926
      NTR_complement_C3; NTR/C345C domain, complement C3 subfamily; The NTR domain found in complement C3 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C3 plays a pivotal role in the activation of the complement ...
      pfam00207
      Location:35131
      A2M; Alpha-2-macroglobulin family
      pfam07677
      Location:663758
      A2M_recep; A-macroglobulin receptor