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    Dsc1 desmocollin 1 [ Mus musculus (house mouse) ]

    Gene ID: 13505, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Dsc1provided by MGI
    Official Full Name
    desmocollin 1provided by MGI
    Primary source
    MGI:MGI:109173
    See related
    Ensembl:ENSMUSG00000044322 AllianceGenome:MGI:109173
    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
    1110020A10Rik
    Summary
    This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in stomach adult (RPKM 1.7), lung adult (RPKM 1.0) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dsc1 in Genome Data Viewer
    Location:
    18 A2; 18 11.17 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (20216528..20247830, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (20083471..20114773, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene desmocollin 3 Neighboring gene desmocollin 2 Neighboring gene STARR-seq mESC enhancer starr_43958 Neighboring gene STARR-seq mESC enhancer starr_43959 Neighboring gene STARR-seq mESC enhancer starr_43960 Neighboring gene desmoglein 1 gamma Neighboring gene STARR-seq mESC enhancer starr_43962 Neighboring gene predicted gene, 31237 Neighboring gene desmoglein 1 alpha

    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. Trangenic misexpression of the differentiation-specific desmocollin isoform 1 in basal keratinocytes. Henkler F, et al. J Invest Dermatol, 2001 Jan. PMID 11168810
    2. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. Chidgey M, et al. J Cell Biol, 2001 Nov 26. PMID 11714727, Free PMC Article
    3. Expression of the "skin-type" desmosomal cadherin DSC1 is closely linked to the keratinization of epithelial tissues during mouse development. King IA, et al. J Invest Dermatol, 1996 Oct. PMID 8823356
    4. Depot-medroxyprogesterone acetate reduces genital cell-cell adhesion molecule expression and increases genital herpes simplex virus type 2 infection susceptibility in a dose-dependent fashion. Quispe Calla NE, et al. Contraception, 2019 Nov. PMID 31302121, Free PMC Article
    5. BubR1 Insufficiency Impairs Liver Regeneration in Aged Mice after Hepatectomy through Intercalated Disc Abnormality. Ikawa-Yoshida A, et al. Sci Rep, 2016 Aug 26. PMID 27561386, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Depot-medroxyprogesterone acetate reduces genital cell-cell adhesion molecule expression and increases genital herpes simplex virus type 2 infection susceptibility in a dose-dependent fashion.
      Title: Depot-medroxyprogesterone acetate reduces genital cell-cell adhesion molecule expression and increases genital herpes simplex virus type 2 infection susceptibility in a dose-dependent fashion.
    2. Up-regulation of desmocollin-1 (DSC1) was observed in wild-type, but not Low-budding uninhibited by benzimidazole-related 1(BubR1)-expressing mutant (BubR1(L/L)) mice after partial hepatectomy (PHx).
      Title: BubR1 Insufficiency Impairs Liver Regeneration in Aged Mice after Hepatectomy through Intercalated Disc Abnormality.
    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)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129348

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in desmosome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    desmocollin-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_001291804.1 → NP_001278733.1  desmocollin-1 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001278733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as Dsc1a) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC132314, AK079441, BC109162
      Consensus CDS
      CCDS89198.1
      UniProtKB/Swiss-Prot
      E9QJX2, P55849
      UniProtKB/TrEMBL
      Q2VPA9
      Related
      ENSMUSP00000153639.2, ENSMUST00000224432.2
      Conserved Domains (4) summary
      cd11304
      Location:248 → 350
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:29 → 109
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:477 → 568
      Cadherin; Cadherin domain
      pfam01049
      Location:837 → 880
      Cadherin_C; Cadherin cytoplasmic region

    2. NM_013504.5 → NP_038532.3  desmocollin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_038532.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as Dsc1b) contains an alternate exon in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC132314, AK079441, BC109161
      Consensus CDS
      CCDS29078.1
      UniProtKB/TrEMBL
      Q32ME9, Q8C4K6
      Related
      ENSMUSP00000042303.6, ENSMUST00000038710.6
      Conserved Domains (3) summary
      cd11304
      Location:248 → 350
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:29 → 109
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:477 → 568
      Cadherin; Cadherin domain

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      20216528..20247830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55849.2 GenPept UniProtKB/Swiss-Prot:P55849

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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