DSC1 [The Human Chemical-Genetic Interaction Map Project]

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======= DSC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DSC1
  * **<color #00a2e8>Official Name</color>**: desmocollin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1823|1823]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q08554|Q08554]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DSC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DSC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/125643|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Cadherin|
|Cadherin C|
|Cadherin pro|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|gap junction|
|desmosome|
|ficolin-1-rich granule membrane|
|cornified envelope|
|cornification|
|homophilic cell adhesion via plasma membrane adhesion molecules|
|cell-cell junction|
|keratinization|
|cell-cell adhesion via plasma-membrane adhesion molecules|
|keratinocyte differentiation|
|epidermal cell differentiation|
|skin development|
|epidermis development|
|neutrophil degranulation|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|neutrophil activation|
|granulocyte activation|
|cell-cell adhesion|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|myeloid leukocyte activation|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|epithelial cell differentiation|
|regulated exocytosis|
|calcium ion binding|
|leukocyte mediated immunity|
|exocytosis|
|leukocyte activation|
|cell adhesion|
|biological adhesion|
|secretion by cell|
|export from cell|
|programmed cell death|
|cell activation|
|immune effector process|
|cell death|
|epithelium development|
|secretion|
|tissue development|
|immune response|
|vesicle-mediated transport|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|-2.11|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13732
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.72 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DSC1 Expression in NALM6 Cells: 0.72'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>