DSG1 - desmoglein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1828

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
1000
1049 a.a.

Protein Preferred Names	Protein Names
desmoglein-1	cadherin family member 4

DSG1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DSG1	Q02413	DSC1	Homo sapiens	Q08554	Pull Down	19136012
Intra	DSG1	Q02413	PKP1	Homo sapiens	Q13835	Pull Down	19136012
Intra	DSG1	Q02413	DSP	Homo sapiens	P15924	Pull Down	19136012
Intra	DSG1	Q02413	JUP	Homo sapiens	P14923	Pull Down	19136012

Cross: Cross-species interaction Intra: Intraspecies interaction

DSG1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83128	Desmoglein 1 Antibody (YA2873)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

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

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112552	1,2-Distearoyl-sn-glycerol		98.0%	Unkown
HY-RS04021	DSG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26394	Dsg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DSG1	NCBI