DSC1 - desmocollin 1 Gene

Homo sapiens

Also known as CDHF1; DG2/DG3

Gene ID: 1823 | Gene type: protein coding

About DSC1

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:31,129,236-31,162,856 (from NCBI)

This gene has 2 transcripts (splice variants), 226 orthologues and 6 paralogues. Restricted expression toward skin (RPKM 118.5).

Summary

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]

DSC1 Products(2)

mRNA	Protein	Name
NM_004948.3	NP_004939.1	desmocollin-1 isoform Dsc1b precursor
NM_024421.2	NP_077739.1	desmocollin-1 isoform Dsc1a preproprotein

DSC1 Protein Structure

Cadherin_pro

Cadherin

Cadherin_C

0
200
400
600
800
894 a.a.

Protein Preferred Names

Protein Names

desmocollin-1

cadherin family member 1

Related Diseases

Diseases

Alias

Subcorneal Pustular Dermatosis

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

Iga Pemphigus

Pemphigus

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

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]

Pemphigoid

Skin Disease

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

Superficial Keratitis

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Paraneoplastic Pemphigus

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

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

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

Impetigo

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

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

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

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

Autoimmune Disease

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

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04014	DSC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DSC1	VGNC	VGNC:40100
Rattus norvegicus	DSC1	RGD	RGD:1310768
Macaca mulatta	DSC1	VGNC	VGNC:71996
Mus musculus	DSC1	MGD	MGI:109173
Felis catus	DSC1	VGNC	VGNC:61634
Bos taurus	DSC1	VGNC	VGNC:28212