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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
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20084184-20114871 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.17 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    25 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109173
 protein coding gene Chr18:20083471-20114871 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024177
 protein coding gene Chr18:17582337-17618114 (-)
A/J MGP_AJ_G0024140
 protein coding gene Chr18:17102985-17132826 (-)
AKR/J MGP_AKRJ_G0024107
 protein coding gene Chr18:17643254-17673253 (-)
BALB/cJ MGP_BALBcJ_G0024139
 protein coding gene Chr18:17143125-17177449 (-)
C3H/HeJ MGP_C3HHeJ_G0023907
 protein coding gene Chr18:17561258-17594255 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024583
 protein coding gene Chr18:18409786-18444472 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022023
 protein coding gene Chr18:16291433-16321483 (-)
CAST/EiJ MGP_CASTEiJ_G0023383
 protein coding gene Chr18:17422256-17456400 (-)
CBA/J MGP_CBAJ_G0023877
 protein coding gene Chr18:18888173-18925197 (-)
DBA/2J MGP_DBA2J_G0024007
 protein coding gene Chr18:16873374-16904824 (-)
FVB/NJ MGP_FVBNJ_G0023972
 protein coding gene Chr18:16650563-16680358 (-)
LP/J MGP_LPJ_G0024090
 protein coding gene Chr18:17706415-17739545 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024001
 protein coding gene Chr18:19747394-19786987 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024630
 protein coding gene Chr18:17385951-17420329 (-)
PWK/PhJ MGP_PWKPhJ_G0023128
 protein coding gene Chr18:16961968-16995297 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022937
 protein coding gene Chr18:17666725-17696670 (-)
WSB/EiJ MGP_WSBEiJ_G0023448
 protein coding gene Chr18:17337234-17368866 (-)



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
less
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    16
  • GO References
    5
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    17
  • Literature Summary
    12
  • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 18

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-38217, MGI:1915898, MGI:2147239
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 12
      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:272423 Choi YJ, et al., RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis. PLoS Genet. 2019 Jan;15(1):e1007914
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    01/14/2020
    MGI 6.14     		The Jackson Laboratory