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Dsc1 Gene Detail
Summary
  • Symbol
    Dsc1
  • Name
    desmocollin 1
  • Synonyms
    1110020A10Rik, Dsc1a, Dsc1b
  • Feature Type
    protein coding gene
  • IDs
    MGI:109173
    NCBI Gene: 13505
  • Gene Overview
    MyGene.info: DSC1
Location & Maps
more
  • Sequence Map
    Chr18:20084703-20114773 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      30071 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.17 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    DSC1, desmocollin 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DSC1, desmocollin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDHF1, DG2/DG3
  • Links
    NCBI Gene ID: 1823
    neXtProt AC: NX_Q08554
    UniProt: Q08554

  • Chr Location
    18q12.1; chr18:31129236-31162856 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    5 images
    4 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    15
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    30
  • Tissues
    26
  • cDNA Data
    16
  • Literature Summary
    11
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    25 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 17
    cDNA 17

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-38217, MGI:1915898, MGI:2147239
References
more
  • Summaries
    All 38
    Developmental Gene Expression 11
    Gene Ontology 5
    Phenotypes 4
  • 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
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/16/2017
MGI 6.09 		The Jackson Laboratory