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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
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr18:20084184-20114871 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      30688 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.17 cM
  • Mapping Data
    4 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
    13
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000044322 Ensembl Gene Model | MGI Sequence Detail 30688 C57BL/6J ±  kb
    transcript ENSMUST00000224432 Ensembl | MGI Sequence Detail 4085 Not Applicable  
    polypeptide ENSMUSP00000153639 Ensembl | MGI Sequence Detail 886 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      25 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 17

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-38217, MGI:1915898, MGI:2147239
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 11
      Gene Ontology 4
      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:237808 Shea CJ, et al., Variable impact of chronic stress on spatial learning and memory in BXD mice. Physiol Behav. 2015 Oct 15;150:69-77
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    06/12/2018
    MGI 6.12     		The Jackson Laboratory