Dsg1a desmoglein 1 alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dsg1aprovided by MGI
Official Full Name: desmoglein 1 alphaprovided by MGI
Primary source: MGI:MGI:94930
See related: Ensembl:ENSMUSG00000069441 AllianceGenome:MGI:94930
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DG1; DGI; Dsg1; dsg1-alpha
Summary: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
Expression: Biased expression in testis adult (RPKM 8.1), limb E14.5 (RPKM 2.2) and 3 other tissues See more
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Genomic context

Location:: 18 A2; 18 11.29 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (20443982..20476407)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (20310873..20343353)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.
Title: Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.
Depot-medroxyprogesterone acetate reduces genital cell-cell adhesion molecule expression and increases genital herpes simplex virus type 2 infection susceptibility in a dose-dependent fashion.
Title: Depot-medroxyprogesterone acetate reduces genital cell-cell adhesion molecule expression and increases genital herpes simplex virus type 2 infection susceptibility in a dose-dependent fashion.
this study shows that Desmoglein 1 deficiency causes lethal skin blistering in mice
Title: Desmoglein 1 Deficiency Causes Lethal Skin Blistering.
These results indicated that keratinocytes with DSG1 deficiency were likely to induce the cutaneous eruptions when stimulated with other medicines.
Title: Desmoglein1 Deficiency Is a Potential Cause of Cutaneous Eruptions Induced by Shuanghuanglian Injection.
Transgenic expression of Dsg1 rescued the severe B6-Dsg3(-/-) phenotype and provided a syngeneic mouse model of pemphigus vulgaris.
Title: Transgenic rescue of desmoglein 3 null mice with desmoglein 1 to develop a syngeneic mouse model for pemphigus vulgaris.
Staphylococcal exfoliative toxins act as serine proteases with extremely focused molecular specificity to cleave mouse and human desmoglein 1 (Dsg1) once after glutamic acid residue 381 between extracellular domains 3 and 4.
Title: Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome.
Expression of desmoglein 1 compensates for genetic loss of desmoglein 3 in keratinocyte adhesion.
Title: Expression of desmoglein 1 compensates for genetic loss of desmoglein 3 in keratinocyte adhesion.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dsg1 (e-PCR), detects polymorphism
- UniSTS:257216

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-catenin binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
colocalizes_with cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in desmosome	TAS Traceable Author Statement more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: desmoglein-1-alpha

Names: desmosomal glycoprotein I

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.

mRNA and Protein(s)

NM_010079.3 → NP_034209.2 desmoglein-1-alpha preproprotein

See identical proteins and their annotated locations for NP_034209.2

Status: VALIDATED

Source sequence(s)

AC108943

Consensus CDS

CCDS50231.1

UniProtKB/Swiss-Prot

A8WFQ4, Q61495, Q8CE03

Related

ENSMUSP00000076393.4, ENSMUST00000077146.4

Conserved Domains (3) summary

cd11304
Location:165 → 265

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:73 → 155

CA; Cadherin repeats

pfam01049
Location:664 → 779

Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

20443982..20476407

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525597.2 → XP_006525660.1 desmoglein-1-alpha isoform X1

Conserved Domains (1) summary

pfam01049
Location:198 → 313

Cadherin_C; Cadherin cytoplasmic region