InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-2022

desmoglein 1

IDBP-726381

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

ENSMUSG00000069441

View Gene Order

ENSBTAG00000013831

Not yet available

Pathways

NETPATH

REACTOME

REACT_13579

Apoptotic cleavage of cell adhesion proteins pathway

REACT_107

Apoptotic cleavage of cellular proteins pathway

REACT_995

Apoptotic execution phase pathway

REACT_578

Apoptosis pathway

KEGG

hsa05150

Staphylococcus aureus infection pathway

INOH

PID NCI

Cross-References

SwissProt

Q02413

TrEMBL

B7Z845

UniProt Splice Variant

Entrez Gene

1828

UniGene

Hs.2633 Hs.603332

RefSeq

NM_001942

HUGO

HGNC:3048

OMIM

125670

CCDS

CCDS11896

HPRD

IMGT

EMBL

AC009717 AF097935 AK302888 X56654

GenPept

AAC83817 BAH13831 CAA39976

RNA Seq Atlas

1828