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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]
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J031162 | Promoter | 0.7 | EPDnew Ensembl | 606.1 | +0.6 | 555 | 1 | DSC1 DSC2 ENSG00000263698 DSCAS | ||
GH18J031163 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | DSC1 lnc-DSG1-14 DSCAS DSG1 | ||
GH18J031202 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 9.6 | -43.1 | -43054 | 7.4 | GATAD2A PRDM10 ZNF629 ZNF512 IKZF1 ZNF692 PRDM1 ZIC2 PKNOX1 PATZ1 | HSALNG0120721 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120720 LOC105372049 | |
GH18J031156 | Enhancer | 0.7 | Ensembl ENCODE | 5.9 | +5.4 | 5395 | 1.4 | ZHX2 REST ESR1 CTBP1 ZNF217 WT1 GATA3 DPF2 PRDM6 ZNF24 | DSC1 DSC2 ENSG00000263698 DSCAS | |
GH18J031185 | Enhancer | 0.5 | Ensembl | 5.7 | -22.8 | -22845 | 0.2 | SOX13 FOXA2 RARA FOS SOX5 | DSC1 HSALNG0120720 lnc-DSG1-14 DSG1 |
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 | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Keratinization |
.33
|
|
3 | Developmental Biology |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DSC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DSC1 30 |
|
||
DSC1B 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | DSC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dsc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dsc1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DSC1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DSC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.17217 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dsc2l 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714749 | Benign: not provided | 31,134,031(-) | A/C | MISSENSE_VARIANT | |
781398 | Benign: not provided | 31,140,033(-) | G/C | INTRON_VARIANT | |
783800 | Benign: not provided | 31,154,802(-) | A/G | MISSENSE_VARIANT | |
789105 | Benign: not provided | 31,132,676(-) | T/C | SYNONYMOUS_VARIANT | |
rs17800159 | - | p.Val460Ile |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
subcorneal pustular dermatosis |
|
|
iga pemphigus |
|
|
pemphigus |
|
|
atrophic lichen planus |
|
|
astroblastoma |
|
|