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CDH1 Gene

protein-coding   GIFtS: 73
GCID: GC16P068771

Cadherin 1, Type 1, E-Cadherin (Epithelial)


(Previous symbol: UVO)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cadherin 1, Type 1, E-Cadherin (Epithelial)1 2     CD3242
UVO1 2 3 5     Cadherin 1, E-Cadherin (Epithelial)2
E-Cadherin1 2     cadherin-12
Epithelial Cadherin2 3     Calcium-Dependent Adhesion Protein, Epithelial2
CDHE2 3     Cell-CAM 120/802
CAM 120/802 3     uvomorulin2
ECAD2 5     E-cadherin3
LCAM2 5     Uvomorulin3
Arc-12     CD324 Antigen3

External Ids:    HGNC: 17481   Entrez Gene: 9992   Ensembl: ENSG000000390687   OMIM: 1920905   UniProtKB: P128303   

Export aliases for CDH1 gene to outside databases

Previous GC identifers: GC16P059456 GC16P069148 GC16P068506 GC16P068547 GC16P067328 GC16P054643


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDH1 Gene:
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent
cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a
highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal,
thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing
proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to
mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise
from mutation at consensus splice sites. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDH1 Gene:
CDH1 (cadherin 1, type 1, E-cadherin (epithelial)) is a protein-coding gene. Diseases associated with CDH1 include gastric linitis plastica, and hereditary diffuse gastric cancer. GO annotations related to this gene include beta-catenin binding and calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell
types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial
cells. Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7
Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on
APP C99 and C83 production

Gene Wiki entry for CDH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDH1 gene promoter:
         AP-2alpha isoform 3   p53   HNF-4alpha2   AP-2alpha isoform 2   HNF-4alpha1   COUP-TF   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDH1 promoter sequence
   Search Chromatin IP Primers for CDH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

CDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDH1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P068771:  view genomic region     (about GC identifiers)

Start:
68,771,128 bp from pter      End:
68,869,451 bp from pter
Size:
98,324 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830 (See protein sequence)
Recommended Name: Cadherin-1 precursor  
Size: 882 amino acids; 97456 Da
Subunit: Homodimer; disulfide-linked. Component of an E-cadherin/ catenin adhesion complex composed of at least
E-cadherin/CDH1, beta-catenin/CTNNB1 or gamma-catenin/JUP, and potentially alpha-catenin/CTNNA1; the complex is
located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind
to F-actin when assembled in the complex. Alternatively, the CTNNA1-containing complex may be linked to F-actin
by other proteins such as LIMA1. Interaction with PSEN1, cleaves CDH1 resulting in the disassociation of
cadherin-based adherens junctions (CAJs). Interacts with AJAP1, CTNND1 and DLGAP5 (By similarity). Interacts with
TBC1D2. Interacts with LIMA1. Interacts with CAV1. Interacts with the TRPV4 and CTNNB1 complex (By similarity).
Interacts with PIP5K1C. Interacts with RAB8B (By similarity). Interacts with RAPGEF2 (By similarity). Interacts
with DDR1; this stabilizes CDH1 at the cell surface and inhibits its internalization
Sequence caution: Sequence=AAA61259.1; Type=Frameshift; Positions=16, 22, 25, 28, 31, 34, 52, 67, 73, 76, 94, 102,
633, 636;
Selected PDB 3D structures from and Proteopedia for CDH1 (see all 12):
1O6S (3D)        2O72 (3D)        2OMT (3D)        2OMU (3D)        2OMV (3D)        2OMX (3D)    
Secondary accessions: A8K1U7 Q13799 Q14216 Q15855 Q16194 Q4PJ14

Explore the universe of human proteins at neXtProt for CDH1: NX_P12830

Explore proteomics data for CDH1 at MOPED

Post-translational modifications: 

  • During apoptosis or with calcium influx, cleaved by a membrane-bound metalloproteinase (ADAM10),
    PS1/gamma-secretase and caspase-3 to produce fragments of about 38 kDa (E-CAD/CTF1), 33 kDa (E-CAD/CTF2) and 29
    kDa (E-CAD/CTF3), respectively. Processing by the metalloproteinase, induced by calcium influx, causes disruption
    of cell-cell adhesion and the subsequent release of beta-catenin into the cytoplasm. The residual
    membrane-tethered cleavage product is rapidly degraded via an intracellular proteolytic pathway. Cleavage by
    caspase-3 releases the cytoplasmic tail resulting in disintegration of the actin microfilament system. The
    gamma-secretase-mediated cleavage promotes disassembly of adherens junctions1
  • N-glycosylation at Asn-637 is essential for expression, folding and trafficking1
  • Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated
    by CBLL1/HAKAI, requires prior phosphorylation at Tyr-7541
  • Glycosylation2 at Thr217, Asn558, Asn637
  • Modification sites at PhosphoSitePlus

  • See CDH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004351.1  
    ENSEMBL proteins: 
     ENSP00000261769   ENSP00000454782   ENSP00000414946   ENSP00000458139   ENSP00000463170  
    Reactome Protein details: P12830

    CDH1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CDH1 (E-Cadherin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CDH1
    OriGene Protein Over-expression Lysate for CDH1
    OriGene MassSpec for CDH1
    OriGene Custom Protein Services for CDH1
    GenScript Custom Purified and Recombinant Proteins Services for CDH1
    Novus Biologicals CDH1 Proteins
    Novus Biologicals CDH1 Lysate
    Sino Biological Recombinant Protein for CDH1
    Sino Biological Cell Lysate for CDH1
    ProSpec Recombinant Protein for CDH1
    Browse Proteins at Cloud-Clone Corp.

    CDH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CDH1
    R&D Systems Antibodies for CDH1 (E-Cadherin)
    Cell Signaling Technology (CST) Antibodies for CDH1 
    OriGene Antibodies for CDH1
    OriGene Custom Antibody Services for CDH1
    Novus Biologicals CDH1 Antibodies
    Abcam antibodies for CDH1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for CDH1
    LSBio Antibodies in human, mouse, rat for CDH1

    CDH1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CDH1
    R&D Systems ELISAs for CDH1 (E-Cadherin)         (see all)
    GenScript Custom Assay Services for CDH1
    Cell Signaling Technology (CST) Sandwich ELISA Kits for CDH1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCDH: Cadherins / Major cadherins
    CD: CD molecules

    Selected InterPro protein domains (see all 6):
     IPR000233 Cadherin_cytoplasmic-dom
     IPR015919 Cadherin-like
     IPR014868 Cadherin_pro_dom
     IPR020894 Cadherin_CS
     IPR027397 Catenin_binding_dom

    Graphical View of Domain Structure for InterPro Entry P12830

    ProtoNet protein and cluster: P12830

    2 Blocks protein domains:
    IPB000233 Cadherin cytoplasmic region
    IPB002126 Cadherin


    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain
    Similarity: Contains 5 cadherin domains


    CDH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CADH1_HUMAN, P12830
    Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
    a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell
    types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial
    cells. Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7
    Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on
    APP C99 and C83 production
    Induction: Expression is repressed by MACROD1

         Genatlas biochemistry entry for CDH1:
    cadherin 1,E-cadherin,transmembrane glycoprotein major adhesion receptor component of adherens junction,expressed
    in epithelial cell,downregulator of cell growth,complexing with CTNNB1,mutated in signet ring cell carcinoma of
    stomach (with poor clinical outcome) in colorectal cancer and in lobular breast cancer (see TSG16A) not in
    adenocarcinoma of the oesophagus,deleted during development of carcinomas (see TSG16H and TSG16A),involved in
    metaplasia of ovarian surface epithelium and in ovarian neoplastic progression

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11401320
    GO:0008013beta-catenin binding IDA17620337
    GO:0019903protein phosphatase binding IEA--
         
    CDH1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CDH1:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with c-Myc af 

         14 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Cdh1):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  immune system  integument  mortality/aging 
     no phenotypic analysis  normal  reproductive system  tumorigenesis 

    CDH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CDH1: Cdh1tm1Cbm Cdh1tm3.2Kem Cdh1tm2.1Kem

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CDH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CDH1:
    hsa-mir-138-5p (MIRT021686), hsa-mir-9-5p (MIRT000029), hsa-mir-26b-5p (MIRT029643), hsa-mir-30c-5p (MIRT047874), hsa-mir-25-3p (MIRT006230), hsa-mir-193b-3p (MIRT016469)

    Block miRNA regulation of human, mouse, rat CDH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDH1 (see all 22):
    hsa-miR-495 hsa-miR-340 hsa-miR-373* hsa-miR-3692 hsa-miR-374a* hsa-miR-511 hsa-miR-9 hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidCDH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CDH1
    Predesigned siRNA for gene silencing in human, mouse, rat CDH1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CDH1

    Clone
    Products:
         
    OriGene clones in human, mouse for CDH1 (see all 6)
    OriGene ORF clones in mouse, rat for CDH1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CDH1 (NM_004360)
    Sino Biological Human cDNA Clone for CDH1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDH1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CDH1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CDH1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CADH1_HUMAN, P12830: Cell junction. Cell membrane; Single-pass type I membrane protein. Endosome. Golgi
    apparatus, trans-Golgi network. Note=Colocalizes with DLGAP5 at sites of cell-cell contact in intestinal
    epithelial cells. Anchored to actin microfilaments through association with alpha-, beta- and gamma-catenin.
    Sequential proteolysis induced by apoptosis or calcium influx, results in translocation from sites of cell-cell
    contact to the cytoplasm. Colocalizes with RAB11A endosomes during its transport from the Golgi apparatus to the
    plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytoskeleton4
    cytosol4
    extracellular3
    golgi apparatus3
    nucleus3
    peroxisome2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005802trans-Golgi network IMP17620337

    CDH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CDH1 About   (see all 51)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    E-cadherin signaling events0.00
    Apoptotic execution phase0.74
    Apoptotic cleavage of cell adhesion proteins0.00
    2Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    3Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    Cell-cell junction organization0.70
    Adherens junctions interactions0.49
    4ERK Signaling
    Rho Family GTPases0.61
    ILK Signaling0.49
    Molecular Mechanisms of Cancer0.51
    5Glioma
    Melanoma0.43
    Bladder cancer0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CDH1 (see all 17)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    EGF Pathway

    2 Cell Signaling Technology (CST) Pathways for CDH1
        Cytoskeletal Signaling
    Adhesion

    2 GeneGo (Thomson Reuters) Pathways for CDH1
        Development HGF signaling pathway
    Cell adhesion Cadherin-mediated cell adhesion

    Selected BioSystems Pathways for CDH1 (see all 17)
        Cell cycle
    Integrated Breast Cancer Pathway
    Neural Crest Differentiation
    Wnt Signaling Pathway NetPath
    Pathogenic Escherichia coli infection

    1 Sino Biological Pathway for CDH1
        EGFR Signaling Pathway

    5 Reactome Pathways for CDH1
        Integrin cell surface interactions
    Adherens junctions interactions
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Apoptotic cleavage of cell adhesion proteins
    Degradation of the extracellular matrix


    Selected Kegg Pathways  (Kegg details for CDH1) (see all 11):
        Rap1 signaling pathway
    Hippo signaling pathway
    Cell adhesion molecules (CAMs)
    Adherens junction
    Bacterial invasion of epithelial cells


    CDH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDH1 (see all 17): 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Adherens Junctions in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CDH1 (P128301, 2, 3 ENSP000002617694) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237724P081073, ENSP000004063594I2D: score=3 STRING: ENSP00000406359
    ENSG00000212866P081073I2D: score=3 
    ENSG00000215328P081073I2D: score=3 
    ENSG00000224501P081073I2D: score=3 
    ENSG00000231555P081073I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 41):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ----
    GO:0001829trophectodermal cell differentiation IEA--
    GO:0003382epithelial cell morphogenesis IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--

    CDH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDH1 (CADH1)

    1 HMDB Compound for CDH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for CDH1 gene (see all 142)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 67.8 20 1793731 (2), 7881109 (1), 19497979 (1), 19293150 (1) (see all 15)
    tyrosine 57.3 214 17087658 (5), 15662113 (4), 11710913 (4), 14675348 (4) (see all 99)
    paraffin 56.9 47 10070338 (1), 12657131 (1), 12800081 (1), 16575127 (1) (see all 45)
    5-aza-2'deoxycytidine 56.8 30 15015578 (3), 15065602 (3), 19881540 (2), 16887905 (2) (see all 17)
    estrogen 51.1 128 19383788 (4), 17893710 (3), 17652530 (3), 14500345 (3) (see all 85)
    vegf 47.2 126 15571312 (6), 14981918 (4), 10424737 (4), 17167724 (3) (see all 76)
    progesterone 46.5 75 15459769 (2), 15605082 (2), 7534041 (1), 10545751 (1) (see all 66)
    sodium bisulfite 46.1 1 17369979 (1)
    tgf beta1 45.2 27 20043090 (3), 19741012 (3), 20440766 (2), 16253118 (2) (see all 13)
    erlotinib 38.4 12 19433879 (3), 19147758 (2), 16361555 (2), 18473353 (1) (see all 5)



    CDH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDH1 gene: 
    NM_004360.3  

    Unigene Cluster for CDH1:

    Cadherin 1, type 1, E-cadherin (epithelial)
    Hs.461086  [show with all ESTs]
    Unigene Representative Sequence: NM_004360
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261769(uc002ewg.1 uc010vlj.1 uc010cfg.1) ENST00000566612
    ENST00000422392 ENST00000566510 ENST00000562836 ENST00000564676 ENST00000564745
    ENST00000561751 ENST00000567320 ENST00000565810 ENST00000562118
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CDH1 (see all 22):
    hsa-miR-495 hsa-miR-340 hsa-miR-373* hsa-miR-3692 hsa-miR-374a* hsa-miR-511 hsa-miR-9 hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidCDH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDH1
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    GenScript: all cDNA clones in your preferred vector: CDH1 (NM_004360)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDH1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CDH1
      QuantiTect SYBR Green Assays in human, mouse, rat CDH1
      QuantiFast Probe-based Assays in human, mouse, rat CDH1

    Additional mRNA sequence: 

    AB025105.1 AB025106.1 AK290012.1 AK297913.1 AK309703.1 AK311198.1 AK312551.1 BC013851.1 
    BC141838.1 BC144283.1 BC146662.1 EU709494.1 L08599.1 X12790.1 X52279.1 Z13009.1 
    Z18923.1 

    14 DOTS entries:

    DT.218339  DT.86847981  DT.91769179  DT.40226053  DT.91769199  DT.120670403  DT.100778483  DT.91769192 
    DT.91769203  DT.91970482  DT.95253807  DT.95321029  DT.100801895  DT.120670391 

    Selected AceView cDNA sequences (see all 391):

    Z13009 BM822938 AA886259 AA370507 AU125850 BM769814 T11384 BI061555 
    AI052135 BM773318 X12790 BM987068 AI459018 BE504438 BI789185 AA341079 
    AI864888 BI962666 AI146368 BX439592 N30761 BQ083439 BM818303 BM825650 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDH1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b
    SP1:                    -                                               -                       -                                       
    SP2:                    -                                                                       -                                       
    SP3:                    -                                         -     -                       -                                       
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for CDH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CDH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGGTGCT
    CDH1 Expression
    About this image


    CDH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 36) fully expand
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 16 entries
             2-Cell Embryo Zygote
             hIPS1
     
     Epithelial Cells
             Anterior Lens Epithelial Cells Lens
             esophagus ; squamous epithelial cells   
             esophageal epithelium   
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 6 entries
             Morula Cells Morula
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 5 entries
             Morula Cells Morula
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Ureteric Bud Tip Cells Ureteric Bud
             Metanephros
             Tubular cell-enriched subpopulation of renal cells
             Renal progenitor cells
    CDH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461086

    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
    Tissue specificity: Non-neural epithelial tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDH1 (see all 17): 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Adherens Junctions in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CDH1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdh11 , 5 cadherin 11, 5 79.6(n)1
    81.42(a)1
      8 (53.18 cM)5
    125501  NM_009864.21  NP_033994.11 
     1066033515 
    chicken
    (Gallus gallus)
    Aves CDH11 cadherin 1, type 1, E-cadherin (epithelial) 64.21(n)
    63.67(a)
      415860  NM_001039258.2  NP_001034347.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74832 Xenopus laevis (clone XTCAD-1) cadherin gene, complete more 71.79(n)    L29057.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdh12 cadherin 1, epithelial 73.52(n)   114424  AF364811.1 


    ENSEMBL Gene Tree for CDH1 (if available)
    TreeFam Gene Tree for CDH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDH1 gene
    DSC12  CDH42  DSG42  DSG12  CDH132  CDH32  DSG22  CDH262  
    DSC32  CDH22  DSC22  CDH152  DSG32  
    Selected SIMAP similar genes for CDH1 using alignment to 8 protein entries:     CADH1_HUMAN (see all proteins) (see all similar genes):
    CDH3    CDH2    CDH4    DKFZp434K1130    DKFZp686P18250    CDH15
    ME1    CDH13    CDH26    Nbla04261    CDH17    DSC2
    CDH10    CDH19    CDH5    CDH7    CDH24    CDH20

    CDH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDH1 (see all 2318)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351877871,2,,4
    C,FA thyroid cancer sample4 --69862613(+) ACAACA/G/TCCCCC 3 T A S mis19MN NA EU 6285
    rs355723551,2,,4
    CHereditary diffuse gastric cancer (HDGC)4 pathogenic169873893(+) TGCTCG/ATGTTT 2 /M /V mis17Minor allele frequency- A:0.00NS NA 188
    VAR_0013144
    A gastric carcinoma sample4--see VAR_0013142 E Q mis40--------
    VAR_0087134
    Hereditary diffuse gastric cancer (HDGC)4--see VAR_0087132 V A mis40--------
    VAR_0013094
    Lobular breast carcinoma4--see VAR_0013092 N S mis40--------
    VAR_0330264
    A breast cancer sample4--see VAR_0330262 M I mis40--------
    VAR_0013224
    An ovarian carcinoma sample4--see VAR_0013222 S G mis40--------
    VAR_0013174
    A diffuse gastric cancer sample4--see VAR_0013172 V D mis40--------
    VAR_0087124
    Hereditary diffuse gastric cancer (HDGC)4--see VAR_0087122 D G mis40--------
    VAR_0330274
    A breast cancer sample4--see VAR_0330272 D N mis40--------

    HapMap Linkage Disequilibrium report for CDH1 (68771128 - 68869451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CDH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714658CNV Deletion23290073
    esv2661913CNV Deletion23128226
    nsv103068CNV Loss16902084
    esv25425CNV Loss19812545
    esv29196CNV Gain19812545
    nsv817735CNV Gain17921354
    nsv833267CNV Gain17160897
    nsv457515CNV Gain19166990

    Human Gene Mutation Database (HGMD): CDH1
    Locus Specific Mutation Databases (LSDB): CDH1

    5 Site Specific Mutation Identification with PCR Assays for CDH1:
    Cosmic IdAA Change
    19761p.T399fs*17
    28934p.V82fs*13
    19785p.T263fs*3
    19748p.D370H
    19822p.A634V
    Selected Site Specific Cancer Mutation PCR Panels containing CDH1 (see all 6):
    Breast Cancer
    Lung and Colon Cancers (Expanded Panel) 384HT
    Cancer Comprehensive Panel 384HT
    APC/CTNNB1 Pathway
    Tumor Suppressor Panel 384HT
    2 Copy Number PCR Panels containing CDH1:
    Oncogenes & Tumor Suppressor Genes 384HC
    WNT Signaling
    SeqTarget long-range PCR primers for resequencing CDH1
    DNA2.0 Custom Variant and Variant Library Synthesis for CDH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 192090   
    OMIM disorders: 608089  167000  114480  137215  176807  
    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
  • Hereditary diffuse gastric cancer (HDGC) [MIM:137215]: A cancer predisposition syndrome with increased
    susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly
    differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the
    stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby
    lymph nodes and organs. It also can metastasize to other parts of the body. Note=The disease is caused by
    mutations affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for
    familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse
    gastric cancer and lobular breast cancer
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus.
    Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other
    fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian
    tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the
    most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of
    late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Breast cancer, lobular (LBC) [MIM:137215]: A type of breast cancer that begins in the milk-producing
    glands (lobules) of the breast. Note=The gene represented in this entry may be involved in disease pathogenesis

  • Selected diseases for CDH1 (see all 236):    
    About MalaCards
    gastric linitis plastica    hereditary diffuse gastric cancer    gastric cancer, familial diffuse, with or without cleft lip and/or palate    malignant epithelial mesothelioma
    endometrial carcinoma, somatic    breast cancer, lobular    diffuse gastric cancer    atrophic lichen planus
    breast medullary carcinoma    trichofolliculoma    lobular neoplasia    meigs syndrome
    pseudo-meigs syndrome    prostate cancer    linitis plastica    gastric cardia carcinoma
    esophagus squamous cell carcinoma    goblet cell carcinoid    gastric cancer risk after h. pylori infection    biphasic synovial sarcoma

    19 diseases from the University of Copenhagen DISEASES database for CDH1:
    Carcinoma     Breast cancer     Colorectal cancer     Prostate cancer
    Lung cancer     Urinary bladder cancer     Hepatocellular carcinoma     Ovarian cancer
    Pancreatic cancer     Adenoma     Stomach cancer     Melanoma
    Ductal carcinoma in situ     Endometrial cancer     Nasopharynx carcinoma     Gastrointestinal system disease
    Ureteral disease     Renal cell carcinoma     Esophageal cancer

    CDH1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CDH1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 85 1015 14580257 (8), 17649807 (7), 16033070 (7), 12508543 (6) (see all 99)
    carcinoma lobular 83 139 9496256 (7), 8256859 (4), 12478484 (3), 10433926 (3) (see all 69)
    tumors 81.9 1887 12712492 (8), 12760799 (6), 19446405 (6), 9306561 (5) (see all 99)
    carcinoma 81.4 647 17649807 (6), 18062285 (5), 16033070 (5), 19253033 (5) (see all 99)
    gastric cancer 79.7 576 10072428 (7), 12908778 (7), 17991318 (6), 15288293 (5) (see all 99)
    cancer 78 660 8507565 (4), 10424737 (4), 15674322 (4), 10994623 (4) (see all 99)
    gastric carcinoma 76.3 247 11313896 (7), 18250063 (6), 15128072 (6), 10408833 (5) (see all 99)
    carcinoma ductal 72.4 92 7534041 (3), 12478484 (3), 17649807 (2), 12168049 (2) (see all 63)
    carcinoma squamous cell 72 272 9301546 (5), 16399195 (5), 8365008 (3), 15899218 (3) (see all 99)
    breast cancer 71.3 484 11597316 (6), 12658921 (6), 17997862 (6), 11912130 (5) (see all 99)

    GeneTests: CDH1
    GeneReviews: CDH1
    Genetic Association Database (GAD): CDH1
    Human Genome Epidemiology (HuGE) Navigator: CDH1 (113 documents)

    Export disorders for CDH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CDH1 gene, integrated from 10 sources (see all 3721):
    (articles sorted by number of sources associating them with CDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of E-cadherin germ-line alterations with prostate cancer. (PubMed id 11705864)1, 2, 4, 9 Ikonen T.... Koivisto P.A. (Clin. Cancer Res. 2001)
    2. Germline E-cadherin mutations in familial lobular breast cancer. (PubMed id 17660459)1, 2, 4, 9 Masciari S....Huntsman D. (J. Med. Genet. 2007)
    3. Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. (PubMed id 12588804)1, 2, 4 Suriano G.... Seruca R. (Hum. Mol. Genet. 2003)
    4. Screening E-cadherin germline mutations in Italian patients with familial diffuse gastric cancer: an analysis in the District of Urbino, Region Marche, Central Italy. (PubMed id 12908778)1, 4, 9 Graziano F....Magnani M. (Tumori 2003)
    5. Polymorphisms in E-cadherin (CDH1) result in a mis-localised cytoplasmic protein that is associated with Crohn's disease. (PubMed id 19398441)1, 4, 9 Muise A.M....Rotin D. (Gut 2009)
    6. CDH1/E-cadherin germline mutations in early-onset gastric cancer. (PubMed id 16801346)1, 4, 9 Bacani J.T....Gallinger S. (J. Med. Genet. 2006)
    7. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. (PubMed id 11948460)1, 4, 9 Jonsson B.A....GrAPnberg H. (Int. J. Cancer 2002)
    8. Calcium influx triggers the sequential proteolysis of extracellular and cytoplasmic domains of E-cadherin, leading to loss of beta-catenin from cell-cell contacts. (PubMed id 10597309)1, 2, 9 Ito K.... Saya H. (Oncogene 1999)
    9. E-cadherin polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study. (PubMed id 19834798)1, 4, 9 Beeghly-Fadiel A....Zheng W. (Breast Cancer Res. Treat. 2010)
    10. E-cadherin promoter polymorphism (C-160A) and risk of recurrence in patients with superficial bladder cancer. (PubMed id 16922727)1, 4, 9 Lin J....Wu X. (Clin. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 999 HGNC: 1748 AceView: CDH1 Ensembl:ENSG00000039068 euGenes: HUgn999
    ECgene: CDH1 Kegg: 999 H-InvDB: CDH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDH1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDH1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdh1/
    Wikipedia http://en.wikipedia.org/wiki/E-cadherin

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDH1 gene:
    Search GeneIP for patents involving CDH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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