Homo sapiens Gene: DSG1
Summary
InnateDB Gene IDBG-2020.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSG1
Gene Name desmoglein 1
Synonyms CDHF4; DG1; DSG; EPKHE; EPKHIA; PPKS1; SPPK1;
Species Homo sapiens
Ensembl Gene ENSG00000134760
Encoded Proteins
desmoglein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:31318089-31357029
Strand Forward strand
Band q12.1
Transcripts
ENST00000257192 ENSP00000257192
ENST00000462981 ENSP00000462666
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0015643 toxic substance binding
GO:0045295 gamma-catenin binding
Biological Process
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0007043 cell-cell junction assembly
GO:0007156 homophilic cell adhesion
GO:0016337 single organismal cell-cell adhesion
GO:0016339 calcium-dependent cell-cell adhesion
GO:0032570 response to progesterone
GO:0050821 protein stabilization
GO:0060135 maternal process involved in female pregnancy
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0009898 cytoplasmic side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma 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
Pathways
NETPATH
REACTOME
Apoptotic execution phase pathway
Apoptosis pathway
Apoptotic cleavage of cell adhesion proteins pathway
Apoptotic cleavage of cellular proteins pathway
KEGG
Staphylococcus aureus infection pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.2633 Hs.603332
RefSeq NM_001942
HUGO
OMIM
CCDS CCDS11896
HPRD 00515
IMGT
EMBL
GenPept
RNA Seq Atlas