InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSG1

Summary

InnateDB Protein

IDBP-2022.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSG1

Protein Name

desmoglein 1

Synonyms

CDHF4; DG1; DSG; EPKHE; EPKHIA; PPKS1; SPPK1;

Species

Homo sapiens

Ensembl Protein

ENSP00000257192

InnateDB Gene

IDBG-2020 (DSG1)

Protein Structure

UniProt Annotation

Function

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, desmosome.

Disease Associations

Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. {ECO:0000269PubMed:10332028}. Note=The disease is caused by mutations affecting the gene represented in this entry.Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. {ECO:0000269PubMed:23974871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Epidermis, tongue, tonsil and esophagus.

Comments

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