DSC1 Gene (Protein Coding)

Desmocollin 1

GC18M031129
GIFtS:
39
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 format... See more...

Aliases for DSC1 Gene

Aliases for DSC1 Gene

  • Desmocollin 1 2 3 5
  • CDHF1 2 3 4
  • Desmosomal Glycoprotein 2/3 3 4
  • Cadherin Family Member 1 3 4
  • Desmocollin-1 3 4
  • DG2/DG3 3 4
  • DSC1 5

External Ids for DSC1 Gene

Previous GeneCards Identifiers for DSC1 Gene

  • GC18M028732
  • GC18M028528
  • GC18M026961
  • GC18M026963
  • GC18M025564

Summaries for DSC1 Gene

Entrez Gene Summary for DSC1 Gene

  • 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]

GeneCards Summary for DSC1 Gene

DSC1 (Desmocollin 1) is a Protein Coding gene. Diseases associated with DSC1 include Subcorneal Pustular Dermatosis and Iga Pemphigus. Among its related pathways are Keratinization and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC2.

UniProtKB/Swiss-Prot Summary for DSC1 Gene

  • Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.

Gene Wiki entry for DSC1 Gene

Additional gene information for DSC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSC1 Gene

Genomics for DSC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DSC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J031161 Promoter 0.3 Ensembl 256.1 +0.8 755 1 DSC1 HSALNG0120719 DSC2 ENSG00000263698 DSCAS
GH18J031162 Promoter 0.3 EPDnew 250.7 +0.1 116 0.1 DSC1 HSALNG0120719 ENSG00000263698 DSC2 DSCAS
GH18J031163 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 DSC1 HSALNG0120719 lnc-DSG1-14 DSCAS DSG1
GH18J031202 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -43.1 -43054 7.4 IKZF1 ZNF600 ZNF580 CEBPA ZNF10 NFIC ZIC2 BCL11A FEZF1 ZNF639 HSALNG0120721-001 HSALNG0120721-002 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120722
GH18J031156 Enhancer 0.7 Ensembl ENCODE 5.9 +5.4 5395 1.4 REST ZNF217 CTBP1 PRDM6 SMARCE1 DPF2 PKNOX1 ZHX2 ZNF24 EP300 DSC1 DSC2 HSALNG0120719 ENSG00000263698 DSCAS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSC1

Top Transcription factor binding sites by QIAGEN in the DSC1 gene promoter:
  • ATF-2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for DSC1 Gene

Latest Assembly
chr18:31,129,236-31,162,856
(GRCh38/hg38)
Size:
33,621 bases
Orientation:
Minus strand

Previous Assembly
chr18:28,709,199-28,742,819
(GRCh37/hg19 by Entrez Gene)
Size:
33,621 bases
Orientation:
Minus strand

chr18:28,709,199-28,742,819
(GRCh37/hg19 by Ensembl)
Size:
33,621 bases
Orientation:
Minus strand

Genomic View for DSC1 Gene

Genes around DSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DSC1 Gene

Proteins for DSC1 Gene

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  • Protein details for DSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08554-DSC1_HUMAN
    Recommended name:
    Desmocollin-1
    Protein Accession:
    Q08554
    Secondary Accessions:
    • Q9HB01

    Protein attributes for DSC1 Gene

    Size:
    894 amino acids
    Molecular mass:
    99987 Da
    Quaternary structure:
    • Binds to JUP/plakoglobin.

    Three dimensional structures from OCA and Proteopedia for DSC1 Gene

    Alternative splice isoforms for DSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSC1 Gene

Protein Expression for DSC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DSC1 Gene

  • Glycosylation at Asn165 and Asn546
  • Modification sites at PhosphoSitePlus

Other Protein References for DSC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSC1 Gene

Domains & Families for DSC1 Gene

Gene Families for DSC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for DSC1 Gene

InterPro:
Blocks:
  • Cadherin
  • Desmosomal cadherin signature
  • Desmocollin signature

Suggested Antigen Peptide Sequences for DSC1 Gene

GenScript: Design optimal peptide antigens:
  • Desmosomal glycoprotein 2/3 (DSC1_HUMAN)
  • Desmocollin 1b (Q9HB00_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08554

UniProtKB/Swiss-Prot:

DSC1_HUMAN :
  • Calcium may be bound by the cadherin-like repeats.
Domain:
  • Calcium may be bound by the cadherin-like repeats.
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with DSC1: view

Function for DSC1 Gene

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  6. Cell Lines for research

Molecular function for DSC1 Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.
GENATLAS Biochemistry:
desmocollin 1 (desmoglein related DGIV/DGV,desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule),specific for keratinizing epithelium of epidermis,expressed in suprabasal spinous layer of epidermis

Phenotypes From GWAS Catalog for DSC1 Gene

Gene Ontology (GO) - Molecular Function for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IPI 19136012
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DSC1: view
genes like me logo Genes that share phenotypes with DSC1: view

Animal Models for DSC1 Gene

MGI Knock Outs for DSC1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DSC1 Gene

Localization for DSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSC1 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSC1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IBA 21873635
GO:0005921 gap junction TAS 7679953
GO:0016020 membrane TAS 7679953
genes like me logo Genes that share ontologies with DSC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSC1 Gene

Pathways & Interactions for DSC1 Gene

genes like me logo Genes that share pathways with DSC1: view

Pathways by source for DSC1 Gene

Gene Ontology (GO) - Biological Process for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0031424 keratinization TAS --
GO:0043312 neutrophil degranulation TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with DSC1: view

No data available for SIGNOR curated interactions for DSC1 Gene

Drugs & Compounds for DSC1 Gene

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  1. Drug products for research

(1) Drugs for DSC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(1) Additional Compounds for DSC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSC1: view

Transcripts for DSC1 Gene

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mRNA/cDNA for DSC1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSC1

Alternative Splicing Database (ASD) splice patterns (SP) for DSC1 Gene

No ASD Table

Relevant External Links for DSC1 Gene

GeneLoc Exon Structure for
DSC1

Expression for DSC1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSC1 Gene

mRNA expression in normal human tissues for DSC1 Gene
mRNA expression by GTEx for DSC1 GenemRNA expression by BioGPS for DSC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSC1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x27.5) and Skin - Not Sun Exposed (Suprapubic) (x21.6).

Protein differential expression in normal tissues from HIPED for DSC1 Gene

This gene is overexpressed in Urinary Bladder (13.2), Bone (12.1), and Skin (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSC1

SOURCE GeneReport for Unigene cluster for DSC1 Gene:

Hs.567260

mRNA Expression by UniProt/SwissProt for DSC1 Gene:

Q08554-DSC1_HUMAN
Tissue specificity: Strongly expressed in epidermis, less in lymph node and tongue.

Evidence on tissue expression from TISSUES for DSC1 Gene

  • Skin(4.7)
  • Heart(2.4)
  • Muscle(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with DSC1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSC1 Gene

Orthologs for DSC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DSC1 29 30
  • 99.33 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DSC1 29
  • 88.28 (n)
DSC1B 30
  • 85 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DSC1 29 30
  • 84.42 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dsc1 29 16 30
  • 82.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dsc1 29
  • 79.65 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DSC1 30
  • 69 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DSC1 30
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 30
  • 50 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 46 (a)
 ManyToMany
-- 30
  • 45 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.17217 29
Zebrafish
(Danio rerio)
 Actinopterygii dsc2l 29 30
  • 47.63 (n)
 OneToMany
Species where no ortholog for DSC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DSC1 Gene

ENSEMBL:
Gene Tree for DSC1 (if available)
TreeFam:
Gene Tree for DSC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSC1: view image
Alliance of Genome Resources:
Additional Orthologs for DSC1

Paralogs for DSC1 Gene

Paralogs for DSC1 Gene

(8) SIMAP similar genes for DSC1 Gene using alignment to 2 proteins:

  • DSC1_HUMAN
  • Q9HB00_HUMAN
genes like me logo Genes that share paralogs with DSC1: view

Variants for DSC1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSC1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs114414131 Benign: not provided 31,140,033(-) G/C
NM_024421.2(DSC1):c.1520+9C>G 		INTRON
rs115175435 Benign: not provided 31,154,802(-) A/G
NM_024421.2(DSC1):c.599T>C (p.Ile200Thr) 		MISSENSE
rs16961338 Benign: not provided 31,132,676(-) T/C
NM_024421.2(DSC1):c.2130A>G (p.Thr710=) 		SYNONYMOUS
rs28620831 Benign: not provided 31,134,031(-) A/C
NM_024421.2(DSC1):c.1976T>G (p.Met659Arg) 		MISSENSE
rs17800159 -- p.Val460Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DSC1 Gene

Variant ID Type Subtype PubMed ID
dgv57n6 CNV deletion 16902084
esv2646471 CNV insertion 19546169
esv2675538 CNV deletion 23128226
esv3305216 CNV mobile element insertion 20981092
esv3310011 CNV mobile element insertion 20981092
esv3404918 CNV insertion 20981092
esv3432249 CNV insertion 20981092
esv3642118 CNV loss 21293372
nsv1109142 CNV deletion 24896259
nsv476063 CNV novel sequence insertion 20440878
nsv519734 CNV loss 19592680
nsv820166 CNV loss 19587683

Variation tolerance for DSC1 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.47; 85.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSC1
Leiden Open Variation Database (LOVD)
DSC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSC1 Gene

Disorders for DSC1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DSC1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
subcorneal pustular dermatosis
  • sneddon-wilkinson disease or syndrome
iga pemphigus
pemphigus
atrophic lichen planus
  • atrophic lp
netherton syndrome
  • neth
- elite association - COSMIC cancer census association via MalaCards
Search DSC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSC1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DSC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSC1 Gene

Publications for DSC1 Gene

  1. Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. (PMID: 11027496) Whittock NV … McGrath JA (Biochemical and biophysical research communications 2000) 3 4 22
  2. Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia. (PMID: 8507556) Theis DG … Franke WW (The International journal of developmental biology 1993) 3 4 22
  3. Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes. (PMID: 19759396) Choi HJ … Weis WI (The Journal of biological chemistry 2009) 4 22
  4. The desmoglein-specific cytoplasmic region is intrinsically disordered in solution and interacts with multiple desmosomal protein partners. (PMID: 19136012) Kami K … Overduin M (Journal of molecular biology 2009) 3 22
  5. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. (PMID: 16628198) Descargues P … Hovnanian A (The Journal of investigative dermatology 2006) 3 22

ExternalLinks

View latest publications for DSC1 gene in Mastermind

Products for DSC1 Gene

  • Addgene plasmids for DSC1

Sources for DSC1 Gene