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Cdh1 Gene Detail
Summary
  • Symbol
    Cdh1
  • Name
    cadherin 1
  • Synonyms
    Ecad, E-cad, E-cadherin, L-CAM, UM, uvomorulin
  • Feature Type
    protein coding gene
  • IDs
    MGI:88354
    NCBI Gene: 12550
  • Gene Overview
    MyGene.info: CDH1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:106603351-106670246 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      66896 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.18 cM, cytoband D
  • Mapping Data
    21 experiments
Homology
more
  • Human Ortholog
    CDH1, cadherin 1
  • Vertebrate Orthologs
    14
  • Human Ortholog
    CDH1, cadherin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Arc-1, BCDS1, CD324, CDHE, ECAD, LCAM, UVO
  • Links
    NCBI Gene ID: 999
    neXtProt AC: NX_P12830
    UniProt: P12830

  • Chr Location
    16q22.1; chr16:68737290-68835542 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 20917
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;5 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CDH1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    5 with human CDH1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 14 alleles in 10 genetic backgrounds
    28 phenotypes from multigenic genotypes
    2 images
    96 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.
In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000020588 VEGA Gene Model | MGI Sequence Detail 66896 C57BL/6J ±  kb
    transcript OTTMUST00000048788 VEGA | MGI Sequence Detail 4430 Not Applicable  
    polypeptide OTTMUSP00000022465 VEGA | MGI Sequence Detail 884 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      408 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 317
      Genomic 9
      cDNA 287
      Primer pair 14
      Other 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15349, MGD-MRK-1881, MGD-MRK-19360, MGI:2142457
    References
    more
    • Summaries
      All 1291
      Developmental Gene Expression 995
      Diseases 1
      Gene Ontology 96
      Phenotypes 96
    • Earliest
      J:31272 Peyrieras N, et al., Uvomorulin: a nonintegral membrane protein of early mouse embryo. Proc Natl Acad Sci U S A. 1983 Oct;80(20):6274-7
    • Latest
      J:261068 Szabo R, et al., Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy. PLoS One. 2018;13(4):e0194660

    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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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory