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Dsc1
Gene Detail
Symbol

Name
ID
Dsc1
desmocollin 1
MGI:109173
Synonyms
1110020A10Rik, Dsc1a, Dsc1b
Feature Type
protein coding gene
Genetic Map
Chromosome 18
11.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr18:20084703-20114773 bp, - strand
From Ensembl annotation of GRCm38

  30071 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22761  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: DSC1
Gene Tree: Dsc1

Human
homologs
DSC1, desmocollin 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1823
neXtProt AC: NX_Q08554

Human Synonyms: CDHF1, DG2/DG3

Human Chr (Location): 18q12.1; chr18:31129236-31162856 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16.
 
Phenotype Images(5)
Interactions
Dsc1 interacts with 218 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules
Component cell junction, desmosome, ...
Function calcium ion binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (30)    Tissues (26)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 24
cDNA source data(16)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(17) cDNA(17)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000044322 (Evidence)
Entrez Gene 13505 (Evidence)
DFCI TC1589403, TC1626905
DoTS DT.91333706, DT.55281257, DT.40183936
NIA Mouse Gene Index U366643, U038242
Consensus CDS Project CCDS29078.1
International Mouse Phenotyping Consortium Status Dsc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000044322 Ensembl Gene Model | MGI Sequence Detail 30071 C57BL/6J ±  kb
transcript ENSMUST00000038710 Ensembl | MGI Sequence Detail 3775 Not Applicable 
polypeptide ENSMUSP00000042303 Ensembl | MGI Sequence Detail 832 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(25 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002126 Cadherin
InterPro IPR020894 Cadherin conserved site
InterPro IPR000233 Cadherin, cytoplasmic domain
InterPro IPR015919 Cadherin-like
InterPro IPR014868 Cadherin prodomain
InterPro IPR027397 Catenin binding domain
InterPro IPR009122 Desmosomal cadherin
Protein Ontology PR:000006692 desmocollin-1
References
(Earliest) J:35511 King IA, et al., Expression of the skin-type desmosomal cadherin DSC1 is closely linked to the keratinization of epithelial tissues during mouse development. J Invest Dermatol. 1996 Oct;107(4):531-8
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(41)
Other
accession IDs
MGD-MRK-38217, MGI:1915898, MGI:2147239

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory