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]

CDH1: a single-pass type I membrane protein, and calcium dependent cell adhesion proteins. It is a ligand for integrin alpha-E/beta-7, and it colocalizes with DLG7 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. Involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Defects in CDH1 are involved in dysfunction of the cell-cell adhesion system, triggering cancer invasion (gastric, breast, ovary, endometrium and thyroid) and metastasis. Has a potent invasive suppressor role.

Protein type: Cell adhesion; Motility/polarity/chemotaxis; Membrane protein, integral; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: apical junction complex; internal side of plasma membrane; focal adhesion; cell surface; lateral loop; basolateral plasma membrane; extracellular region; integral to membrane; trans-Golgi network; catenin complex; actin cytoskeleton; cell-cell adherens junction; apical part of cell; perinuclear region of cytoplasm; cytoplasm; plasma membrane; nerve terminal; cell junction; endosome; lateral plasma membrane

Molecular Function: protein domain specific binding; protein binding; gamma-catenin binding; beta-catenin binding; GTPase activating protein binding; calcium ion binding; cell adhesion molecule binding; ankyrin binding; glycoprotein binding; protein phosphatase binding

Biological Process: response to drug; intercellular junction assembly and maintenance; extracellular matrix organization and biogenesis; regulation of immune response; apoptosis; response to toxin; positive regulation of transcription, DNA-dependent; regulation of caspase activity; trophectodermal cell differentiation; regulation of water loss via skin; extracellular matrix disassembly; cell-cell adhesion; synaptogenesis; sensory perception of sound; pituitary gland development; calcium-dependent cell-cell adhesion; protein metabolic process; positive regulation of transcription factor import into nucleus; negative regulation of cell-cell adhesion; homophilic cell adhesion; protein homooligomerization; neurite development; negative regulation of epithelial cell proliferation; cell structure disassembly during apoptosis

Disease: Gastric Cancer, Hereditary Diffuse; Prostate Cancer; Breast Cancer; Ovarian Cancer; Endometrial Cancer