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Aliases for DSC1 Gene

Aliases for DSC1 Gene

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

External Ids for DSC1 Gene

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. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSC1 Gene

DSC1 (Desmocollin 1) is a Protein Coding gene. Diseases associated with DSC1 include atrophic lichen planus and subcorneal pustular dermatosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH13.

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

Genomic Location for DSC1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSC1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn165 and Asn546

Other Protein References for DSC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSC1 Gene

Domains for DSC1 Gene

Gene Families for DSC1 Gene

HGNC:
  • MCDH :Cadherins / Major cadherins

UniProtKB/Swiss-Prot:

DSC1_HUMAN
Domain:
  • Calcium may be bound by the cadherin-like repeats.:
    • Q08554
  • 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.:
    • Q08554
  • Contains 5 cadherin domains.:
    • Q08554
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

Gene Ontology (GO) - Molecular Function for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
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:

miRNA for DSC1 Gene

miRTarBase miRNAs that target DSC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
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
GO:0016020 membrane TAS 7679953
GO:0016021 integral component of membrane IEA --
GO:0030057 desmosome IEA --
genes like me logo Genes that share ontologies with DSC1: view

Pathways for DSC1 Gene

SuperPathways for DSC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with DSC1: view

No data available for Pathways by source for DSC1 Gene

Compounds for DSC1 Gene

(1) HMDB Compounds for DSC1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for DSC1 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 10.5 1
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) (27.5) and Skin - Not Sun Exposed (Suprapubic) (21.6).

Integrated Proteomics: protein expression 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 expressions with DSC1: view

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 36
  • 99.33 (n)
  • 98.88 (a)
DSC1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DSC1 36
  • 84.42 (n)
  • 80.02 (a)
DSC1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSC1 36
  • 88.28 (n)
  • 86.9 (a)
DSC1B 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsc1 36
  • 82.66 (n)
  • 81.73 (a)
Dsc1 16
Dsc1 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSC1 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSC1 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsc1 36
  • 79.65 (n)
  • 77.76 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 45 (a)
ManyToMany
-- 37
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17217 36
zebrafish
(Danio rerio)
Actinopterygii dsc2l 36
  • 47.63 (n)
  • 38.83 (a)
dsc2l 37
  • 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

Selected 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 MAF
rs4325646 -- 31,164,428(+) GGGAA(A/G)TTGAT upstream-variant-2KB
rs9944812 -- 31,163,742(+) TAAGG(C/T)AGAGC upstream-variant-2KB
rs9955430 -- 31,163,715(+) GACAG(A/G)AGGAT upstream-variant-2KB
rs12970550 -- 31,163,812(+) TGGGA(A/C)CAATT upstream-variant-2KB
rs16961382 -- 31,163,353(+) ACAGG(A/G)AACTT 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

Relevant External Links for DSC1 Gene

HapMap Linkage Disequilibrium report
DSC1

Disorders for DSC1 Gene

(3) University of Copenhagen DISEASES for DSC1 Gene

(4) Novoseek inferred disease relationships for DSC1 Gene

Disease -log(P) Hits PubMed IDs
subcorneal pustular dermatosis 93.4 6
pemphigus 84.4 13
skin diseases 60.1 2
cancer 0 2
genes like me logo Genes that share disorders with DSC1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia. (PMID: 8507556) Theis D.G. … Franke W.W. (Int. J. Dev. Biol. 1993) 3 4 23
  3. Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes. (PMID: 19759396) Choi H.J. … Weis W.I. (J. Biol. Chem. 2009) 4 23
  4. Keratinization is associated with the expression of a new protein related to the desmosomal cadherins DGII/III. (PMID: 1713860) King I.A. … Buxton R.S. (FEBS Lett. 1991) 3 4
  5. Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18. (PMID: 8288219) King I.A. … Buxton R.S. (Genomics 1993) 3 4

Products for DSC1 Gene

Sources for DSC1 Gene

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