Version: 8.0.0Date: Tue Jan 28 2025
Gene
CDH1
- Species
- Homo sapiens
- Symbol
- CDH1
- Name
- cadherin 1
- Synonyms
- Arc-1
- BCDS1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including GTPase activating protein binding activity; ankyrin binding activity; and beta-catenin binding activity. Involved in several processes, including cell-cell adhesion mediated by cadherin; cellular response to indole-3-methanol; and cellular response to lithium ion. Located in several cellular components, including adherens junction; lateral plasma membrane; and trans-Golgi network. Part of catenin complex and flotillin complex. Implicated in several diseases, including blepharocheilodontic syndrome 1; breast cancer (multiple); carcinoma (multiple); cervix uteri carcinoma in situ; and reproductive organ cancer (multiple). Biomarker of several diseases, including endocrine gland cancer (multiple); invasive lobular carcinoma; oral squamous cell carcinoma; prostate cancer; and pulmonary fibrosis.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24027
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr16:68737292...68835537 + (98.25 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.