DSC1 - desmocollin 1 Gene

Also Known as CDHF1; DG2/DG3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1823

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19136012	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

DSC1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86851	Desmocollin 1 Antibody (YA6544)	WB	Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04014	DSC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04016	DSC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11779	RCAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21728	Rcan1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DSC1	NCBI