Human Gene DSC1 (uc002kwn.3) Description and Page Index
  Description: Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.
RefSeq Summary (NM_024421): 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].
Transcript (Including UTRs)
   Position: hg19 chr18:28,709,214-28,742,819 Size: 33,606 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr18:28,710,477-28,742,557 Size: 32,081 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr18:28,709,214-28,742,819)mRNA (may differ from genome)Protein (894 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Desmocollin-1; AltName: Full=Cadherin family member 1; AltName: Full=Desmosomal glycoprotein 2/3; Short=DG2/DG3; Flags: Precursor;
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.
SUBUNIT: Binds to JUP/plakoglobin.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
TISSUE SPECIFICITY: Strongly expressed in epidermis, less in lymph node and tongue.
DOMAIN: Calcium may be bound by the cadherin-like repeats (Potential).
SIMILARITY: Contains 5 cadherin domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: DSC1
Diseases sorted by gene-association score: subcorneal pustular dermatosis (14), pemphigus (12), atrophic lichen planus (8), skin disease (2), paraneoplastic pemphigus (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 103.03 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 196.65 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.70262-0.312 Picture PostScript Text
3' UTR -357.831263-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002126 - Cadherin
IPR015919 - Cadherin-like
IPR020894 - Cadherin_CS
IPR000233 - Cadherin_cytoplasmic-dom
IPR014868 - Cadherin_pro_dom
IPR009122 - Desmo_cadherin
IPR009124 - Desmocollin

Pfam Domains:
PF00028 - Cadherin domain
PF01049 - Cadherin cytoplasmic region
PF08758 - Cadherin prodomain like

SCOP Domains:
49313 - Cadherin-like

ModBase Predicted Comparative 3D Structure on Q08554
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0031424 keratinization
GO:0043312 neutrophil degranulation
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030057 desmosome
GO:0070062 extracellular exosome
GO:0101003 ficolin-1-rich granule membrane

-  Descriptions from all associated GenBank mRNAs
  X72925 - Homo sapiens mRNA for desmocollin type 1.
Z34522 - H.sapiens mRNA for desmocollin type 1 (diferentially spliced).
JD559688 - Sequence 540712 from Patent EP1572962.
JD523783 - Sequence 504807 from Patent EP1572962.
JD112292 - Sequence 93316 from Patent EP1572962.
JD089482 - Sequence 70506 from Patent EP1572962.
JD509170 - Sequence 490194 from Patent EP1572962.
JD412015 - Sequence 393039 from Patent EP1572962.
JD381452 - Sequence 362476 from Patent EP1572962.
JD172049 - Sequence 153073 from Patent EP1572962.
JD215313 - Sequence 196337 from Patent EP1572962.
JD357025 - Sequence 338049 from Patent EP1572962.
JD157048 - Sequence 138072 from Patent EP1572962.
JD046948 - Sequence 27972 from Patent EP1572962.
JD440470 - Sequence 421494 from Patent EP1572962.
JD310728 - Sequence 291752 from Patent EP1572962.
JD489722 - Sequence 470746 from Patent EP1572962.
JD290493 - Sequence 271517 from Patent EP1572962.
JD284853 - Sequence 265877 from Patent EP1572962.
JD546361 - Sequence 527385 from Patent EP1572962.
JD436328 - Sequence 417352 from Patent EP1572962.
JD165987 - Sequence 147011 from Patent EP1572962.
JD237494 - Sequence 218518 from Patent EP1572962.
JD284931 - Sequence 265955 from Patent EP1572962.
BC148349 - Synthetic construct Homo sapiens clone IMAGE:100015280, MGC:182966 desmocollin 1 (DSC1) mRNA, encodes complete protein.
AB527133 - Synthetic construct DNA, clone: pF1KB7342, Homo sapiens DSC1 gene for desmocollin 1, without stop codon, in Flexi system.
JD438695 - Sequence 419719 from Patent EP1572962.
JD245353 - Sequence 226377 from Patent EP1572962.
JD396527 - Sequence 377551 from Patent EP1572962.
JD069304 - Sequence 50328 from Patent EP1572962.
JD460331 - Sequence 441355 from Patent EP1572962.
JD126270 - Sequence 107294 from Patent EP1572962.
JD327335 - Sequence 308359 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q08554 (Reactome details) participates in the following event(s):

R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-6809393 Keratin filaments bind cell-cell adhesion complexes
R-HSA-6814695 PERP binds desmosomes
R-HSA-8942224 Filaggrin binds Keratin tonofilament:Desmosome
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
R-HSA-168256 Immune System
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CDHF1, DSC1_HUMAN, NM_024421, NP_077739, Q08554, Q9HB01
UCSC ID: uc002kwn.3
RefSeq Accession: NM_024421
Protein: Q08554 (aka DSC1_HUMAN)
CCDS: CCDS11894.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_024421.2
exon count: 16CDS single in 3' UTR: no RNA size: 4225
ORF size: 2685CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5471.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.