DSC1

DSC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5IRY
Identifiers
Aliases	DSC1, CDHF1, DG2/DG3, desmocollin 1
External IDs	OMIM: 125643; MGI: 109173; HomoloGene: 22761; GeneCards: DSC1; OMA:DSC1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q12.1 Start 31,129,236 bp[1] End 31,162,856 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 A2 Start 20,217,241 bp[2] End 20,247,928 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip skin of arm human penis nipple vulva skin of abdomen cardiac muscle tissue of right atrium hair follicle right auricle Top expressed in skin of external ear hair follicle esophagus skin of back lip condyle umbilical cord skin of abdomen fossa human fetus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding Cellular component integral component of membrane gap junction cell junction desmosome extracellular exosome membrane cornified envelope plasma membrane ficolin-1-rich granule membrane cell-cell junction Biological process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules keratinization neutrophil degranulation cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1823 13505 Ensembl ENSG00000134765 ENSMUSG00000044322 UniProt Q08554 P55849 RefSeq (mRNA) NM_024421 NM_004948 NM_001291804 NM_013504 RefSeq (protein) NP_004939 NP_077739 NP_001278733 NP_038532 Location (UCSC) Chr 18: 31.13 – 31.16 Mb Chr 18: 20.22 – 20.25 Mb PubMed search [3] [4]
Wikidata
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Desmocollin-1 is a protein that in humans is encoded by the DSC1 gene.^[5][6]

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms.^[6]