DSG1 - desmoglein 1 Gene

Homo sapiens

Also known as DG1; DSG; CDHF4; EPKHE; PPKS1; SPPK1; EPKHIA

Gene ID: 1828 | Gene type: protein coding

About DSG1

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,318,160-31,359,246 (from NCBI)

This gene has 2 transcripts (splice variants), 398 orthologues, 6 paralogues and is associated with 8 phenotypes. Restricted expression toward skin (RPKM 314.6).

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]

DSG1 Products(1)

mRNA	Protein	Name
NM_001942.4	NP_001933.2	desmoglein-1 preproprotein

DSG1 Protein Structure

Cadherin

Cadherin_C

0
200
400
600
800
1049 a.a.

Protein Preferred Names

Protein Names

desmoglein-1

cadherin family member 4

Related Diseases

Diseases

Alias

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige

Sam Syndrome	Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome
EPKHE	Severe Dermatitis, Multiple Allergies, And Metabolic Wasting Syndrome
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper Ige	Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome

Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse

PPKS1	Keratosis Palmoplantaris Striata I
Sppk1	Keratosis Palmoplantaris Striata 1
Striate Palmoplantar Keratoderma I	Keratoderma, Palmoplantar, Striate Form I
Kpps1	Keratosis Palmoplantaris Striata I, Ad
Keratoderma, Palmoplantar Striate Form 1	Striate Palmoplantar Keratoderma 1
Focal Palmoplantar Keratoderma With Joint Keratoses	Diffuse Palmoplantar Keratoderma With Painful Fissures
Palmoplantar Keratoderma 1, Striate, Focal, Or Diffuse	Keratosis Palmoplantaris Striata, Type 1

Striate Palmoplantar Keratoderma

Keratosis Palmoplantaris Striata	Keratosis Palmoplantaris Striata Et Areata
Keratosis Palmoplantaris Varians Of Wachters

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Pemphigus

Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis	Diffuse Ppk
Diffuse Keratosis Palmoplantaris

Ritter'S Disease

Staphylococcal Scalded Skin Syndrome	Pemphigus Neonatorum
Ritter Disease	Dermatitis Exfoliativa Neonatorum
Scalded Skin Syndrome	Toxic Epidermal Necrolysis, Subcorneal Type
Generalized Exfoliative Disease	Ssss
Ssss - [Staphylococcal Scalded Skin Syndrome]

Bullous Impetigo

Hereditary Palmoplantar Keratoderma

Hereditary Ppk	Hereditary Keratosis Palmoplantaris
Hereditary Palmoplantar Hyperkeratosis

Herpetiform Pemphigus

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

Impetigo

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis	Sneddon-Wilkinson Disease Or Syndrome
Pustulosis Subcornealis	Sneddon-Wilkinson Disease
Skin Diseases, Vesiculobullous	Vesiculobullous Skin Disease

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Bullous Pemphigoid

Benign Pemphigus	Senile Dermatitis Herpetiformis
Old Age Pemphigus	Parapemphigus
Pemphigoid	Pemphigoid Bullous
Pemphigoid, Bullous

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Pemphigus Vegetans

Pemphigoid

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

Iga Pemphigus

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Netherton Syndrome

NETH	Ns
Netherton Disease	Comel-Netherton Syndrome
Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige	Bamboo Hair Syndrome
Ichthyosis Linearis Circumflexa	Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige
Ilc	Nts
N Syndrome

Silicosis

Silicotuberculosis	Acute Silicosis
Chronic Silicosis	Pneumoconiosis Due To Silicates
Silica Pneumoconiosis	Silicotic Fibrosis Of Lung
Accelerated Silicosis	Experimental Silicosis

Onchocerciasis

Infection By Onchocerca Volvulus	River Blindness
Onchocerca Volvulus Infection	Volvulosis
Robles' Disease	Onchocerciasis, Ocular
Robles Disease	Onchocercosis
Blinding Filariasis	Robles
Onchocerca Infestation	Craw-Craw

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Paraneoplastic Pemphigus

Esophagitis

Acute Esophagitis

Keratosis

Actinic Keratosis

Hyperkeratosis

Autoimmune Disease Of Skin And Connective Tissue

Lichen Planus

Lichen Ruber Planus	Lichen, Ruber Planus
Ruber Planus	Lp - [Lichen Planus]
Lichen Planus Of Wilson	Wilson Lichen Ruber

Hidradenitis

Hydradenitis

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Keratoacanthoma

Ka - [Keratoacanthoma]

Well-Differentiated Squamous Cell Carcinoma

Pemphigoid Gestationis

Herpes Gestationis	Gestational Pemphigoid
Gestational Herpes

Hypotrichosis

Peeling Skin Syndrome

Deciduous Skin	Familial Continuous Skin Peeling Syndrome
Idiopathic Deciduous Skin	Keratosis Exfoliativa Congenita
Pss	Peeling Skin Disease
Skin Peeling Syndrome	Familial Continuous Skin Peeling
Keratolysis Exfoliativa Congenita	Exfoliation Syndrome
Keratolysis Exfoliativa

Benign Chronic Pemphigus

Hailey-Hailey Disease	Pemphigus, Benign Familial
Familial Benign Pemphigus	Benign Familial Pemphigus
Familial Benign Chronic Pemphigus	BCPM
HHD	Benign Chronic Familial Pemphigus Of Hailey-Hailey
Pemphigus, Chronic, Benign

Lichen Disease

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Pseudomembranous Conjunctivitis

Ecthyma

Acute Laryngopharyngitis

Pharyngolaryngitis	Laryngopharyngitis
Hypopharyngitis

Naxos Disease

Mal De Naxos	NXD
Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities	Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair	Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy
Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy	Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities	Kwwh Type I
Keratoderma With Woolly Hair Type I	Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy
Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Pyoderma

Darier-White Disease

Keratosis Follicularis	Darier Disease
Darier'S Disease	DAR
DD	Darier White Disease
Darier Disease Acral Hemorrhagic Type	Darier Disease Segmental
Darier Disease, Acral Hemorrhagic Type	Darier Disease, Segmental

Cicatricial Pemphigoid

Mucous Membrane Pemphigoid	Ocular Pemphigoid
Benign Mucous Membrane Pemphigoid	Benign Mucous Membrane Pemphigoid With Ocular Involvement
Benign Mucosal Pemphigoid	Pemphigoid, Benign Mucous Membrane
Cicatricial Pemphigoid With Ocular Involvement	Ocular Pemphigus
Cicatricial Pemphigoid Disease	Mucosal Pemphigoid
Mucosynechial Pemphigoid	Pemphigoid Cicatricial
Cicatricial Pemphigoid Involving The Eye	Ocular Cicatricial Pemphigoid

Spongiotic Dermatitis

Integumentary System Disease

Seborrheic Dermatitis

Seborrhoeic Dermatitis	Seborrhea
Seborrhoeic Eczema	Skin Seborrheic
Dermatitis, Seborrheic

Esophagitis, Eosinophilic, 1

Eosinophilic Esophagitis	EOE1
Esophagitis, Eosinophilic	Ee

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Commensal Bacterial Infectious Disease

Autoimmune Disease Of Musculoskeletal System

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-112552	1,2-Distearoyl-sn-glycerol		≥98.0%	Phase 3

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04021	DSG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DSG1	VGNC	VGNC:80439
Rattus norvegicus	DSG1	RGD	RGD:1309925
Canis familiaris	DSG1	VGNC	VGNC:40105
Macaca mulatta	DSG1	VGNC	VGNC:72001
Bos taurus	DSG1	VGNC	VGNC:28220