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Dsc1 desmocollin 1 [ Mus musculus (house mouse) ]

Gene ID: 13505, updated on 11-Apr-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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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. 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
  2. Trangenic misexpression of the differentiation-specific desmocollin isoform 1 in basal keratinocytes. Henkler F, et al. J Invest Dermatol, 2001 Jan. PMID 11168810
  3. 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
  4. 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
  5. 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

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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
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 membrane IEA
Inferred from Electronic Annotation
more info
  
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

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