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    Cd46 CD46 antigen, complement regulatory protein [ Mus musculus (house mouse) ]

    Gene ID: 17221, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cd46provided by MGI
    Official Full Name
    CD46 antigen, complement regulatory proteinprovided by MGI
    Primary source
    MGI:MGI:1203290
    See related
    Ensembl:ENSMUSG00000016493 AllianceGenome:MGI:1203290
    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
    Mcp
    Summary
    Predicted to enable cadherin binding activity. Predicted to contribute to endopeptidase activity. Predicted to be involved in several processes, including positive regulation of T cell activation; positive regulation of macromolecule metabolic process; and regulation of signal transduction. Predicted to act upstream of or within single fertilization. Predicted to be located in several cellular components, including Golgi apparatus; basolateral plasma membrane; and inner acrosomal membrane. Predicted to be active in plasma membrane. Is expressed in testis. Used to study age related macular degeneration. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; meningococcal meningitis; multiple sclerosis; and pre-eclampsia. Orthologous to human CD46 (CD46 molecule). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 1.4), cortex adult (RPKM 1.4) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 H6; 1 98.41 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (194721279..194781149, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (195038971..195098784, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A330023F24 gene Neighboring gene microRNA 29b-2 Neighboring gene STARR-seq mESC enhancer starr_03503 Neighboring gene microRNA 29c Neighboring gene complement C3b/C4b receptor 1 like Neighboring gene STARR-positive B cell enhancer ABC_E11117 Neighboring gene STARR-seq mESC enhancer starr_03504 Neighboring gene predicted gene, 32313 Neighboring gene complement receptor 2 Neighboring gene STARR-positive B cell enhancer ABC_E11118 Neighboring gene predicted gene, 29726

    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. Nitrite Modification of Extracellular Matrix Alters CD46 Expression and VEGF Release in Human Retinal Pigment Epithelium. Fields MA, et al. Invest Ophthalmol Vis Sci, 2015 Jul. PMID 26161984, Free PMC Article
    2. Complement regulatory protein CD46 protects against choroidal neovascularization in mice. Lyzogubov V, et al. Am J Pathol, 2014 Sep. PMID 25019227, Free PMC Article
    3. Human-like immune responses in CD46 transgenic mice. Johansson L, et al. J Immunol, 2005 Jul 1. PMID 15972677
    4. CD46 on glial cells can function as a receptor for viral glycoprotein-mediated cell-cell fusion. Cassiani-Ingoni R, et al. Glia, 2005 Nov 15. PMID 15920733
    5. Disruption of mouse CD46 causes an accelerated spontaneous acrosome reaction in sperm. Inoue N, et al. Mol Cell Biol, 2003 Apr. PMID 12640142, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD46 expression in the central nervous system of male and female pubescent mice.
      Title: CD46 expression in the central nervous system of male and female pubescent mice.
    2. The association between CD46 expression in B cells and the pathogenesis of airway allergy.
      Title: The association between CD46 expression in B cells and the pathogenesis of airway allergy.
    3. Changes in CD46 expression may lead to changes in VEGF and play a pathologic role in the development of age-related macular degeneration.
      Title: Nitrite Modification of Extracellular Matrix Alters CD46 Expression and VEGF Release in Human Retinal Pigment Epithelium.
    4. Our findings provide evidence for expression of CD46 in the mouse eye and a role for CD46 in protection against laser-induced choroidal neovascularization
      Title: Complement regulatory protein CD46 protects against choroidal neovascularization in mice.
    5. This fusion is mediated by the interaction between viral glycoproteins expressed on the membrane of the infected cells and CD46 on the glial targets, and is also observed using cells expressing recombinant MV glycoproteins.
      Title: CD46 on glial cells can function as a receptor for viral glycoprotein-mediated cell-cell fusion.
    6. CD46 isoforms function as receptors for human herpesvirus 6 and measles virus
      Title: Human Herpesvirus 6 and Measles Virus Employ Distinct CD46 Domains for Receptor Function.
    7. Disruption of mouse CD46 causes an accelerated spontaneous acrosome reaction in sperm and increased male fertility
      Title: Disruption of mouse CD46 causes an accelerated spontaneous acrosome reaction in sperm.
    8. CD46 has a role as a receptor for fusion and entry of human herpesvirus 6 into target cells
      Title: Interaction of glycoprotein H of human herpesvirus 6 with the cellular receptor CD46.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (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 cadherin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell mediated immunity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in T cell mediated immunity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of complement activation, classical pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of T cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of interleukin-10 production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of memory T cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of regulatory T cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transforming growth factor beta production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of Notch signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sequestering of extracellular ligand from receptor ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    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 inner acrosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    membrane cofactor protein

    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_010778.4 → NP_034908.1  membrane cofactor protein precursor

      See identical proteins and their annotated locations for NP_034908.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AB010919, AC139206, AK006632, BE634816
      Consensus CDS
      CCDS35828.1
      UniProtKB/Swiss-Prot
      O88174, Q9R0R9
      UniProtKB/TrEMBL
      B2RWQ6
      Related
      ENSMUSP00000123931.2, ENSMUST00000162650.8
      Conserved Domains (2) summary
      cd00033
      Location:239 → 294
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam00084
      Location:109 → 168
      Sushi; Sushi repeat (SCR repeat)

    RNA

    1. NR_132621.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB010919, AC139206, AK006632, BE634816

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      194721279..194781149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497236.2 → XP_006497299.1  membrane cofactor protein isoform X3

      See identical proteins and their annotated locations for XP_006497299.1

      UniProtKB/TrEMBL
      B2RWQ6
      Conserved Domains (1) summary
      PHA02927
      Location:11 → 243
      PHA02927; secreted complement-binding protein; Provisional

    2. XM_006497235.5 → XP_006497298.1  membrane cofactor protein isoform X2

      UniProtKB/TrEMBL
      B2RWQ6
      Related
      ENSMUSP00000123901.2, ENSMUST00000159563.8
      Conserved Domains (1) summary
      PHA02927
      Location:64 → 296
      PHA02927; secreted complement-binding protein; Provisional

    3. XM_006497234.5 → XP_006497297.1  membrane cofactor protein isoform X1

      UniProtKB/TrEMBL
      B2RWQ6
      Conserved Domains (1) summary
      PHA02927
      Location:64 → 296
      PHA02927; secreted complement-binding protein; Provisional

    4. XM_006497237.4 → XP_006497300.1  membrane cofactor protein isoform X3

      See identical proteins and their annotated locations for XP_006497300.1

      UniProtKB/TrEMBL
      B2RWQ6
      Conserved Domains (1) summary
      PHA02927
      Location:11 → 243
      PHA02927; secreted complement-binding protein; Provisional

    5. XM_011238930.4 → XP_011237232.1  membrane cofactor protein isoform X5

      Conserved Domains (1) summary
      PHA02927
      Location:64 → 235
      PHA02927; secreted complement-binding protein; Provisional

    6. XM_036162529.1 → XP_036018422.1  membrane cofactor protein isoform X4

      UniProtKB/TrEMBL
      A0A0R4J1X9
      Conserved Domains (1) summary
      PHA02927
      Location:64 → 235
      PHA02927; secreted complement-binding protein; Provisional

    RNA

    1. XR_004940718.1 RNA Sequence

    2. XR_373888.5 RNA Sequence

    3. XR_001783154.3 RNA Sequence

    4. XR_373889.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88174.1 GenPept UniProtKB/Swiss-Prot:O88174

    Gene LinkOut

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