DSG1 desmoglein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DSG1provided by HGNC
Official Full Name: desmoglein 1provided by HGNC
Primary source: HGNC:HGNC:3048
See related: Ensembl:ENSG00000134760 MIM:125670; AllianceGenome:HGNC:3048
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; EPKHE; PPKS1; SPPK1; EPKHIA
Summary: This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]
Expression: Restricted expression toward skin (RPKM 314.6) See more
Orthologs: all
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Genomic context

Location:: 18q12.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (31318160..31359246)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (31508717..31549794)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (28898123..28939209)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration.
Title: Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration.
Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
Title: Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
Title: Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.
Title: Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.
Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.
Title: Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.
Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.
Title: Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.
Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.
Title: Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.
Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus.
Title: Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus.
Negative Expression of DSG1 and DSG2, as Prognostic Biomarkers, Impacts on the Overall Survival in Patients with Extrahepatic Cholangiocarcinoma.
Title: Negative Expression of DSG1 and DSG2, as Prognostic Biomarkers, Impacts on the Overall Survival in Patients with Extrahepatic Cholangiocarcinoma.
Keratinocyte cadherin desmoglein 1 controls melanocyte behavior through paracrine signaling.
Title: Keratinocyte cadherin desmoglein 1 controls melanocyte behavior through paracrine signaling.

Submit: New GeneRIF Correction See all GeneRIFs (71)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Palmoplantar keratoderma i, striate, focal, or diffuse MedGen: C2931122 OMIM: 148700 GeneReviews: Not available	Compare labs
Severe dermatitis-multiple allergies-metabolic wasting syndrome MedGen: C3809719 OMIM: 615508 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants at 5q22 associate with pediatric eosinophilic esophagitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57616 (e-PCR)
- UniSTS:65086

RH18108 (e-PCR)
- UniSTS:86335

GDB:185729 (e-PCR)
- UniSTS:155456

SHGC-11960 (e-PCR)
- UniSTS:80732

STS-T69781 (e-PCR)
- UniSTS:75141

RH99223 (e-PCR)
- UniSTS:87990

DSG1 (e-PCR)
- UniSTS:480229

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables gamma-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables toxic substance binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell junction assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in maternal process involved in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	NAS Non-traceable Author Statement more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: desmoglein-1

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

NCBI Reference Sequences (RefSeq)

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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_011803.2 RefSeqGene

Range

5072..46158

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001942.4 → NP_001933.2 desmoglein-1 preproprotein

See identical proteins and their annotated locations for NP_001933.2

Status: REVIEWED

Source sequence(s)

AC009717, AF097935, BX476267, CU456411

Consensus CDS

CCDS11896.1

UniProtKB/Swiss-Prot

B7Z845, Q02413

Related

ENSP00000257192.4, ENST00000257192.5

Conserved Domains (3) summary

cd11304
Location:161 → 265

Cadherin_repeat; Cadherin tandem repeat domain

pfam00028
Location:54 → 148

Cadherin; Cadherin domain

pfam01049
Location:646 → 761

Cadherin_C; Cadherin cytoplasmic region