Dsc1
Gene Detail

Symbol Name ID

Dsc1 desmocollin 1 MGI:109173

Synonyms

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 NCBI 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 dog; 1 zebrafish

Gene Tree: Dsc1

Human homologs

Human Homolog		DSC1, desmocollin 1
NCBI Gene ID		1823
neXtProt AC		NX_Q08554
Human Synonyms		CDHF1, DG2/DG3
Human Chr (Location)		18q12.1; chr18:31129236-31162856 (-)  GRCh38

Alleles and phenotypes

All 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)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	cell adhesion, homophilic cell adhesion
Component	cell junction, desmosome, ...
Function	calcium ion binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (11 records)

Data Summary: Results (6)    Tissues (3)   
Theiler Stages: 20, 23, 25

Assay Type	Results
Immunohistochemistry	6

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) cDNA(16)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000044322 (Evidence)
Entrez Gene	13505 (Evidence)
UniGene	33740
DFCI	TC1589403
DoTS	DT.40183936, DT.91333706
NIA Mouse Gene Index	U038242
Consensus CDS Project	CCDS29078.1
International Mouse Knockout Project Status	Dsc1

Sequences

Length	Strain/Species
genomic	13505	NCBI Gene Model | MGI Sequence Detail	30071	C57BL/6J
transcript	NM_013504	RefSeq | MGI Sequence Detail	5007	C57BL/6
polypeptide	P55849	UniProt | EBI | MGI Sequence Detail	886	Not Applicable

All sequences(21) RefSeq(4) UniProt(4)

Polymorphisms

SNPs within 2kb(25 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR002126	Cadherin
InterPro	IPR020894	Cadherin conserved site
InterPro	IPR000233	Cadherin, cytoplasmic domain
InterPro	IPR009124	Cadherin/Desmocollin
InterPro	IPR015919	Cadherin-like
InterPro	IPR014868	Cadherin prodomain
InterPro	IPR027397	Catenin binding domain
InterPro	IPR009122	Desmosomal cadherin
Protein Ontology	PR:000006692	desmocollin-1

Graphical View of Protein Domain Structure

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(39)

Other accession IDs

MGD-MRK-38217