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Aliases for CDH1 Gene

Aliases for CDH1 Gene

  • Cadherin 1 2 3
  • E-Cadherin 2 3 4
  • Cadherin 1, Type 1, E-Cadherin (Epithelial) 2 3
  • Epithelial Cadherin 3 4
  • Cadherin 1, Type 1 3 5
  • CAM 120/80 3 4
  • Uvomorulin 3 4
  • CDHE 3 4
  • UVO 3 4
  • Calcium-Dependent Adhesion Protein, Epithelial 3
  • Cadherin 1, E-Cadherin (Epithelial) 3
  • Cell-CAM 120/80 3
  • CD324 Antigen 4
  • E-Cadherin 1 3
  • Arc-1 3
  • CD324 3
  • ECAD 3
  • LCAM 3

External Ids for CDH1 Gene

Previous HGNC Symbols for CDH1 Gene

  • UVO

Previous GeneCards Identifiers for CDH1 Gene

  • GC16P059456
  • GC16P069148
  • GC16P068506
  • GC16P068547
  • GC16P067328
  • GC16P068771
  • GC16P054643

Summaries for CDH1 Gene

Entrez Gene Summary for CDH1 Gene

  • This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is 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 of this gene is thought to contribute to cancer progression 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. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

GeneCards Summary for CDH1 Gene

CDH1 (Cadherin 1) is a Protein Coding gene. Diseases associated with CDH1 include gastric cancer risk after h. pylori infection and endometrial cancer. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and protein phosphatase binding. An important paralog of this gene is DSG2.

UniProtKB/Swiss-Prot for CDH1 Gene

  • 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.

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH1 Gene

Genomics for CDH1 Gene

Regulatory Elements for CDH1 Gene

Promoters for CDH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDH1 Gene

Chromosome:
16
Start:
68,737,225 bp from pter
End:
68,835,548 bp from pter
Size:
98,324 bases
Orientation:
Plus strand

Genomic View for CDH1 Gene

Genes around CDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH1 Gene

Proteins for CDH1 Gene

  • Protein details for CDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12830-CADH1_HUMAN
    Recommended name:
    Cadherin-1
    Protein Accession:
    P12830
    Secondary Accessions:
    • A8K1U7
    • Q13799
    • Q14216
    • Q15855
    • Q16194
    • Q4PJ14
    • Q9UII8

    Protein attributes for CDH1 Gene

    Size:
    882 amino acids
    Molecular mass:
    97456 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA61259.1; Type=Frameshift; Positions=16, 22, 25, 28, 31, 34, 52, 67, 73, 76, 94, 102, 633, 636; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDH1 Gene

    Alternative splice isoforms for CDH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH1 Gene

Proteomics data for CDH1 Gene at MOPED

Post-translational modifications for CDH1 Gene

  • 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 junctions.
  • N-glycosylation at Asn-637 is essential for expression, folding and trafficking.
  • Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated by CBLL1/HAKAI, requires prior phosphorylation at Tyr-754.
  • Glycosylation at Thr 217, Asn 558, Asn 570, Asn 622, and Asn 637
  • Modification sites at PhosphoSitePlus

Assay Products

No data available for DME Specific Peptides for CDH1 Gene

Domains & Families for CDH1 Gene

Gene Families for CDH1 Gene

Graphical View of Domain Structure for InterPro Entry

P12830

UniProtKB/Swiss-Prot:

CADH1_HUMAN :
  • 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.
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.
  • Contains 5 cadherin domains.
genes like me logo Genes that share domains with CDH1: view

Function for CDH1 Gene

Molecular function for CDH1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.
UniProtKB/Swiss-Prot Induction:
Expression is repressed by MACROD1.

Gene Ontology (GO) - Molecular Function for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11401320
GO:0030506 ankyrin binding IPI 17620337
GO:0045295 gamma-catenin binding IPI 1639850
genes like me logo Genes that share ontologies with CDH1: view
genes like me logo Genes that share phenotypes with CDH1: view

Human Phenotype Ontology for CDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH1 Gene

MGI Knock Outs for CDH1:

Animal Model Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDH1 Gene

Localization for CDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH1 Gene

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
Jensen Localization Image for CDH1 Gene COMPARTMENTS Subcellular localization image for CDH1 gene
Compartment Confidence
cytoskeleton 5
endosome 5
extracellular 5
golgi apparatus 5
plasma membrane 5
cytosol 3
nucleus 3
peroxisome 2
vacuole 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005913 cell-cell adherens junction IDA 16338932
GO:0015629 actin cytoskeleton IDA 16338932
GO:0016328 lateral plasma membrane IDA 16338932
GO:0030054 cell junction TAS 17047063
genes like me logo Genes that share ontologies with CDH1: view

Pathways & Interactions for CDH1 Gene

genes like me logo Genes that share pathways with CDH1: view

SIGNOR curated interactions for CDH1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007155 cell adhesion IEA --
GO:0007416 synapse assembly IEA --
GO:0021983 pituitary gland development IEA --
genes like me logo Genes that share ontologies with CDH1: view

Drugs & Compounds for CDH1 Gene

(68) Drugs for CDH1 Gene - From: Novoseek, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Combretastatin-A4 phosphate Pharma Vascular disrupting agents (VDA) 0

(74) Additional Compounds for CDH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDH1: view

Transcripts for CDH1 Gene

Unigene Clusters for CDH1 Gene

Cadherin 1, type 1, E-cadherin (epithelial):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDH1 Gene

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:

Relevant External Links for CDH1 Gene

GeneLoc Exon Structure for
CDH1
ECgene alternative splicing isoforms for
CDH1

Expression for CDH1 Gene

mRNA expression in normal human tissues for CDH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH1 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.0), Colon - Transverse (x5.4), Pancreas (x4.9), and Minor Salivary Gland (x4.0).

Protein differential expression in normal tissues from HIPED for CDH1 Gene

This gene is overexpressed in Urine (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDH1 Gene



SOURCE GeneReport for Unigene cluster for CDH1 Gene Hs.461086

mRNA Expression by UniProt/SwissProt for CDH1 Gene

P12830-CADH1_HUMAN
Tissue specificity: Non-neural epithelial tissues.
genes like me logo Genes that share expression patterns with CDH1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CDH1 Gene

Orthologs for CDH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDH1 35
  • 83.11 (n)
  • 82.2 (a)
E-CADHERIN 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDH1 35
  • 84.24 (n)
  • 83.24 (a)
CDH1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdh1 35
  • 79.6 (n)
  • 81.42 (a)
Cdh1 16
Cdh1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDH1 35
  • 99.24 (n)
  • 99.66 (a)
CDH1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdh1 35
  • 80.02 (n)
  • 81.3 (a)
oppossum
(Monodelphis domestica)
Mammalia CDH1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDH1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDH1 35
  • 64.21 (n)
  • 63.67 (a)
CDH1 36
  • 63 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485633 35
  • 59.67 (n)
  • 59.08 (a)
Str.3002 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7483 35
zebrafish
(Danio rerio)
Actinopterygii cdh1 35
  • 57.33 (n)
  • 54.09 (a)
cdh1 36
  • 53 (a)
ManyToMany
si:ch211-206i14.2 36
  • 46 (a)
ManyToMany
si:dkey-173l11.3 36
  • 41 (a)
ManyToMany
si:dkey-173l11.5 36
  • 44 (a)
ManyToMany
si:dkey-30c15.12 36
  • 44 (a)
ManyToMany
Species with no ortholog for CDH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDH1 Gene

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

Paralogs for CDH1 Gene

Paralogs for CDH1 Gene

genes like me logo Genes that share paralogs with CDH1: view

Variants for CDH1 Gene

Sequence variations from dbSNP and Humsavar for CDH1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_001306 A gastric cancer sample
VAR_001307 A diffuse gastric cancer sample
VAR_001309 Lobular breast carcinoma
VAR_001310 -
VAR_001311 A diffuse gastric cancer sample

Structural Variations from Database of Genomic Variants (DGV) for CDH1 Gene

Variant ID Type Subtype PubMed ID
nsv457515 CNV Gain 19166990
nsv833267 CNV Gain 17160897
nsv103068 CNV Loss 16902084
esv29196 CNV Gain 19812545
esv2661913 CNV Deletion 23128226
esv2714658 CNV Deletion 23290073
nsv817735 CNV Gain 17921354
esv25425 CNV Loss 19812545

Variation tolerance for CDH1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDH1 Gene

HapMap Linkage Disequilibrium report
CDH1
Human Gene Mutation Database (HGMD)
CDH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH1 Gene

Disorders for CDH1 Gene

MalaCards: The human disease database

(115) MalaCards diseases for CDH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric cancer risk after h. pylori infection
  • gastric cancer, somatic
endometrial cancer
  • endometrial cancer, familial
prostate cancer
  • prostate cancer, hereditary, 5
breast cancer
  • breast cancer, invasive ductal
ovarian cancer, somatic
  • adenocarcinoma, ovarian, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CDH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CADH1_HUMAN
  • Breast cancer, lobular (LBC) [MIM:137215]: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. {ECO:0000269 PubMed:17660459}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • 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.
  • 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. {ECO:0000269 PubMed:10319582, ECO:0000269 PubMed:12216071}. Note=Disease susceptibility is associated with variations 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.
  • 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. {ECO:0000269 PubMed:8075649}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CDH1

Genetic Association Database (GAD)
CDH1
Human Genome Epidemiology (HuGE) Navigator
CDH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDH1
genes like me logo Genes that share disorders with CDH1: view

No data available for Genatlas for CDH1 Gene

Publications for CDH1 Gene

  1. Germline E-cadherin mutations in familial lobular breast cancer. (PMID: 17660459) Masciari S. … Huntsman D. (J. Med. Genet. 2007) 3 4 48 67
  2. Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. (PMID: 19965908) Pinheiro H. … Oliveira C. (Hum. Mol. Genet. 2010) 3 23
  3. Multifactorial regulation of E-cadherin expression: an integrative study. (PMID: 20053763) Reinhold W.C. … Weinstein J.N. (Mol. Cancer Ther. 2010) 3 23
  4. Tumor expression of integrin-linked kinase (ILK) correlates with the expression of the E-cadherin repressor snail: an immunohistochemical study in ductal pancreatic adenocarcinoma. (PMID: 20091050) Schaeffer D.F. … Owen D.A. (Virchows Arch. 2010) 3 23
  5. ERalpha signaling through slug regulates E-cadherin and EMT. (PMID: 20101232) Ye Y. … Barsky S.H. (Oncogene 2010) 3 23

Products for CDH1 Gene

Sources for CDH1 Gene

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