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Aliases for DSC1 Gene

Aliases for DSC1 Gene

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

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 pemphigus. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSC1 Gene

Genomics for DSC1 Gene

Regulatory Elements for DSC1 Gene

Promoters for DSC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DSC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSC1 Gene

Chromosome:
18
Start:
31,129,236 bp from pter
End:
31,162,856 bp from pter
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 StructureGene Density

RefSeq DNA sequence for DSC1 Gene

Proteins for DSC1 Gene

  • 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.

    Alternative splice isoforms for DSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSC1 Gene

Proteomics data for DSC1 Gene at MOPED

Post-translational modifications for DSC1 Gene

  • Glycosylation at Asn 165 and Asn 546
  • Modification sites at PhosphoSitePlus

Other Protein References for DSC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DSC1 Gene

Domains & Families for DSC1 Gene

Gene Families for DSC1 Gene

Suggested Antigen Peptide Sequences for DSC1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 5 cadherin domains.
genes like me logo Genes that share domains with DSC1: view

Function for DSC1 Gene

Molecular function for DSC1 Gene

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
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.
genes like me logo Genes that share phenotypes with DSC1: view

Animal Models for DSC1 Gene

MGI Knock Outs for DSC1:

Animal Model Products

miRNA for DSC1 Gene

miRTarBase miRNAs that target DSC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DSC1 Gene COMPARTMENTS Subcellular localization image for DSC1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction TAS 7679953
genes like me logo Genes that share ontologies with DSC1: view

Pathways & Interactions for DSC1 Gene

SuperPathways for DSC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DSC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DSC1 Gene

Drugs & Compounds for DSC1 Gene

(1) Drugs for DSC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(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

mRNA/cDNA for DSC1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSC1 Gene

Desmocollin 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for DSC1 Gene

GeneLoc Exon Structure for
DSC1
ECgene alternative splicing isoforms for
DSC1

Expression for DSC1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for DSC1 Gene



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.
genes like me logo Genes that share expression patterns with DSC1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia DSC1 35
  • 84.42 (n)
  • 80.02 (a)
DSC1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSC1 35
  • 88.28 (n)
  • 86.9 (a)
DSC1B 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsc1 35
  • 82.66 (n)
  • 81.73 (a)
Dsc1 16
Dsc1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSC1 35
  • 99.33 (n)
  • 98.88 (a)
DSC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsc1 35
  • 79.65 (n)
  • 77.76 (a)
oppossum
(Monodelphis domestica)
Mammalia DSC1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSC1 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17217 35
zebrafish
(Danio rerio)
Actinopterygii dsc2l 35
  • 47.63 (n)
  • 38.83 (a)
dsc2l 36
  • 34 (a)
OneToMany
Species with no ortholog for DSC1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DSC1 Gene

Paralogs for DSC1 Gene

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

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

Variants for DSC1 Gene

Sequence variations from dbSNP and Humsavar for DSC1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_055579 -
VAR_055580 -
VAR_061059 -
rs4325646 -- 31,164,428(+) GGGAA(A/G)TTGAT upstream-variant-2KB
rs9944812 -- 31,163,742(+) TAAGG(C/T)AGAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv519734 CNV Loss 19592680
esv2675538 CNV Deletion 23128226
nsv820166 CNV Loss 19587683
esv2646471 CNV Insertion 19546169
esv274283 CNV Insertion 20981092
esv269494 CNV Insertion 20981092
dgv57n6 CNV Loss 16902084

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)

Relevant External Links for DSC1 Gene

HapMap Linkage Disequilibrium report
DSC1

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

Disorders for DSC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DSC1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
subcorneal pustular dermatosis
  • sneddon-wilkinson disease or syndrome
pemphigus
atrophic lichen planus
  • atrophic lp
astroblastoma
  • cerebral astroblastoma
skin disease
  • dermatitis due to substances taken internally
- elite association - COSMIC cancer census association via MalaCards
Search DSC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DSC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSC1
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 N.V. … McGrath J.A. (Biochem. Biophys. Res. Commun. 2000) 3 4 23 67
  2. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. (PMID: 16628198) Descargues P. … Hovnanian A. (J. Invest. Dermatol. 2006) 3 23
  3. Desmocollin 1 expression and desmosomal remodeling during terminal differentiation of human anagen hair follicle: an electron microscopic study. (PMID: 15140019) Donetti E. … Barajon I. (Exp. Dermatol. 2004) 3 23
  4. Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion. (PMID: 9214392) Chitaev N.A. … Troyanovsky S.M. (J. Cell Biol. 1997) 3 23
  5. Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells. (PMID: 8884173) Nuber U.A. … Franke W.W. (Eur. J. Cell Biol. 1996) 3 23

Products for DSC1 Gene

Sources for DSC1 Gene

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