Dsc1 Gene Summary [Mouse]

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]

Details

Type
Protein Coding
Official Symbol
Dsc1
Official Name
desmocollin 1 [Source:MGI Symbol;Acc:MGI:109173]
Ensembl ID
ENSMUSG00000044322
Bio databases IDs NCBI: 13505 Ensembl: ENSMUSG00000044322
Aliases desmocollin 1
Synonyms 1110020A10Rik, CDHF1, desmocollin 1, DG2/DG3, DGIV/V, LOC102555477
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dsc1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • Cadherin, Y-type LIR-motif
  • Cadherin prodomain like
  • cytoplasmic domain
  • intracellular domain
  • Cadherin repeat-like domain
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Netherton syndrome
  • peeling of skin
  • psoriasis
  • acantholysis
  • comedones
  • hyperplasia
  • alopecia
  • microphthalmia
  • eyelids open at birth
  • dermatitis
regulated by
regulates
  • ERK
  • keratin II, 6
  • keratin 16
role in cell
  • proliferation
  • differentiation
  • accumulation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cornified envelope
  • cell surface
  • cell borders
  • cellular membrane
  • desmosomes
  • secretory granule membrane
  • gap junctions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Dsc1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • homophilic cell adhesion

Cellular Component

Where in the cell the gene product is active
  • gap junction
  • cornified envelope
  • extracellular vesicular exosome
  • membrane
  • desmosome
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

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