Homo sapiens Gene: DSC1
Summary
InnateDB Gene IDBG-1991.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSC1
Gene Name desmocollin 1
Synonyms CDHF1; DG2/DG3;
Species Homo sapiens
Ensembl Gene ENSG00000134765
Encoded Proteins
desmocollin 1
desmocollin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:31129236-31162856
Strand Reverse strand
Band q12.1
Transcripts
ENST00000257197 ENSP00000257197
ENST00000257198 ENSP00000257198
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 24 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007156 homophilic cell adhesion
Cellular Component
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030057 desmosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q08554
TrEMBL Q9HB00
UniProt Splice Variant
Entrez Gene 1823
UniGene Hs.567260
RefSeq NM_004948 NM_024421
HUGO HGNC:3035
OMIM 125643
CCDS CCDS11894 CCDS11895
HPRD
IMGT
EMBL AF293358 CH471088 X72925 Z34522
GenPept AAG23424 AAG23425 CAA51428 CAA51429 CAA84278 CAA84279 EAX01252 EAX01253
RNA Seq Atlas 1823