DSG1 desmoglein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: DSG1provided by HGNC
Official Full Name: desmoglein 1provided by HGNC
Primary source: HGNC:3048
See related: Ensembl:ENSG00000134760; HPRD:00515; MIM:125670; Vega:OTTHUMG00000131983
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DG1; DSG; CDHF4; PPKS1; SPPK1
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]

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Genomic context

Location :: 18q12.1

Sequence :: Chromosome: 18; NC_000018.9 (28898052..28937394)

See DSG1 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Induced gene expression levels of plakoglobin, desmoglein-1 and desmoglein-2 correlated significantly with dilatation of intercellular spaces and basal cell hyperplasia in esophageal mucosa of patients with gastro-oesophageal reflux disease.
Title: Gastro-oesophageal reflux disease is associated with up-regulation of desmosomal components in oesophageal mucosa.
The identification of desmogleins 1 and 3, desmosomal adhesion glycoproteins, as targets in pemphigus, a fatal autoimmune blistering disease of the skin and mucous membranes, provided the first link between desmosomes, desmogleins, and human diseases.
Title: Desmoglein as a target in skin disease and beyond.
anti-DSG1 response in fogo selvagem patients may be initiated by sensitization to an environmental allergen
Title: IgE, IgM, and IgG4 anti-desmoglein 1 autoantibody profile in endemic pemphigus foliaceus (fogo selvagem).
KLK5 may promote metastatic dissemination of OSCC by promoting loss of junctional integrity through cleavage of desmoglein 1.
Title: Kallikrein-5 promotes cleavage of desmoglein-1 and loss of cell-cell cohesion in oral squamous cell carcinoma.
Data show that desmoglein 1 expression was required for the adhesive effects of EphA2.
Title: Ligand targeting of EphA2 enhances keratinocyte adhesion and differentiation via desmoglein 1.
Histone deacetylase inhibition up-regulates desmosomal cadherins and prevents the loss of adhesion induced by Dsg1 truncation.
Title: Plakoglobin rescues adhesive defects induced by ectodomain truncation of the desmosomal cadherin desmoglein 1: implications for exfoliative toxin-mediated skin blistering.
localized on corneodesmosomes involved in adhesion
Title: Bidimensional analysis of desmoglein 1 distribution on the outermost corneocytes provides the structural and functional information of the stratum corneum.
loss of heterophilic Dsc3/Dsg1 binding may contribute to pemphigus skin blistering
Title: Desmocollin 3-mediated binding is crucial for keratinocyte cohesion and is impaired in pemphigus.
the anti-DSG1 response in pemphigus foliaceus is antigen driven and that selection for mutant anti-DSG1 B cells begins well before the onset of disease
Title: Antigen selection of anti-DSG1 autoantibodies during and before the onset of endemic pemphigus foliaceus.
Pemphigus foliaceus is an autoimmune blistering skin disease characterized by the production of pathogenic IgG autoantibodies directed against desmoglein 1.
Title: Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

Keratosis palmoplantaris striata I

MIM: 148700

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001933.1	NP_009114.1	PKP3	BIND	PubMed	PKP3 interacts with Dsg1
Q02413	Q02487	DSC2	HPRD	PubMed
Q02413	P14923	JUP	HPRD	PubMed
Q02413	Q9Y337	KLK5	HPRD	PubMed
Q02413	Q13835	PKP1	HPRD	PubMed
Q02413	Q99959	PKP2	HPRD	PubMed
Q02413	Q9Y446	PKP3	HPRD	PubMed
BioGRID:108162	BioGRID:108157	DSC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108162	BioGRID:108158	DSC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108162	BioGRID:109931	JUP	BioGRID	PubMed	Reconstituted Complex
BioGRID:108162	BioGRID:128436	KHDRBS2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108162	BioGRID:120112	OTUD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108162	BioGRID:111334	PKP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108162	BioGRID:111335	PKP2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108162	BioGRID:116357	PKP3	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108162	BioGRID:111512	PPP2R2A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108162	BioGRID:115788	SSSCA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108162	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:108162	BioGRID:113241	USP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108162	BioGRID:120020	USP53	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
gamma-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
toxin binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
apoptotic process	TAS Traceable Author Statement more info
calcium-dependent cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
cell-cell junction assembly	NAS Non-traceable Author Statement more info	PubMed
cellular component disassembly involved in apoptosis	TAS Traceable Author Statement more info
homophilic cell adhesion	IEA Inferred from Electronic Annotation more info
protein stabilization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
desmosome	NAS Non-traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
internal side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: desmoglein-1

Names: desmoglein-1; DGI; cadherin family member 4; desmosomal glycoprotein 1; pemphigus foliaceus antigen

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011803.1 RefSeqGene

Range

5001..44343

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001942.2 → NP_001933.2 desmoglein-1 preproprotein

Status: REVIEWED

Source sequence(s)

AC009717, AF097935, BX476267

Consensus CDS

CCDS11896.1

UniProtKB/Swiss-Prot

Q02413

Related

ENSP00000257192, OTTHUMP00000162826, ENST00000257192, OTTHUMT00000254947

Conserved Domains (2) summary

pfam01049
Location:646 – 760
Blast Score: 175

Cadherin_C; Cadherin cytoplasmic region

cd11304
Location:161 – 265
Blast Score: 212

Cadherin_repeat; Cadherin tandem repeat domain.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p5 Primary Assembly

Range

28898052..28937394

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

25754044..25793387

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009717.15 (16734..56077)	None
genomic	AJ001716.1	CAA04949.1
genomic	CH471088.1	EAX01254.1
mRNA	AF088042.1	None
mRNA	AF097935.1	AAC83817.1
mRNA	AK302888.1	BAH13831.1
mRNA	BX476267.1	None
mRNA	X56654.1	CAA39976.1
other-genetic	BC148374.1	AAI48375.1
other-genetic	BC153001.1	AAI53002.1