CTNND1 (Catenin Delta 1)
A key regulator of cell-cell adhesion and transcriptional signaling, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | CTNND1 |
|---|---|
| Full Name | Catenin Delta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 1500 ncbi.nlm.nih.gov/gene/1500 |
| Ensembl ID | ENSG00000198561 |
| UniProt ID | O60716 |
| OMIM ID | 601045 |
| HGNC ID | 2515 |
| Aliases | p120 catenin, p120ctn, CAS, CTNND |
Description
CTNND1 encodes p120 catenin, a member of the armadillo repeat protein family. It functions as a key regulator of cadherin-mediated cell-cell adhesion by binding to the juxtamembrane domain of classical cadherins and modulating their stability and clustering. Additionally, p120 catenin shuttles to the nucleus to interact with transcription factors such as Kaiso, influencing gene expression. CTNND1 is involved in cell migration, proliferation, and differentiation, and its dysregulation is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Blepharocheilodontic syndrome | Loss-of-function mutations in CTNND1 disrupt cell adhesion and signaling during craniofacial development, leading to the characteristic features of eyelid, lip, and dental anomalies. | ClinVar, OMIM |
| Colorectal cancer | CTNND1 overexpression or mislocalization can promote tumor invasion and metastasis by altering E-cadherin function and activating Wnt/β-catenin signaling. | COSMIC, NCBI |
| Breast cancer | Altered CTNND1 expression correlates with poor prognosis; p120 catenin loss in invasive lobular carcinoma contributes to reduced cell adhesion. | NCBI, COSMIC |
| Lung cancer | CTNND1 mutations and aberrant expression are associated with increased cell motility and epithelial-mesenchymal transition (EMT). | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 24.3 | High |
| Kidney | 18.7 | High |
| Breast | 15.2 | Medium |
| Colon | 12.8 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 22.1 | High expression |
| MCF7 (breast adenocarcinoma) | 16.4 | Medium expression |
| HCT116 (colorectal carcinoma) | 19.7 | High expression |
| HEK293 (embryonic kidney) | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.163C>T (p.Arg55*) | Nonsense | Rare | Loss of function; associated with Blepharocheilodontic syndrome |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Alters protein stability and cadherin binding; linked to cancer |
| c.1862_1863insA (p.Leu621fs) | Frameshift | Rare | Truncation; loss of nuclear localization signal; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing cadherin binding and cell adhesion, leading to developmental disorders like Blepharocheilodontic syndrome.
Gain of Function (GOF)
Overexpression or mutations that enhance nuclear translocation and transcriptional activity, promoting cell migration and invasion in cancers.
Dominant Negative (DN)
Missense mutations that disrupt p120 catenin function while interfering with wild-type protein, impairing cadherin clustering and adhesion.
View complete mutation data：
Gene Ontology (GO)
| • cell-cell adhesion | • cadherin binding |
| • transcription coregulator activity | • protein homodimerization activity |
| • Wnt signaling pathway |
Pathways
• Cadherin signaling pathway
• Wnt signaling pathway
• Epithelial-mesenchymal transition
• Cell adhesion molecules (CAMs)
Protein Summary
The CTNND1 protein, p120 catenin, is a 968-amino acid armadillo repeat-containing protein that localizes to adherens junctions and the nucleus. It stabilizes cadherin complexes at the plasma membrane, regulates Rho GTPase activity, and modulates gene expression via interaction with Kaiso. Post-translational modifications, including phosphorylation, control its subcellular localization and function. Dysregulation of p120 catenin contributes to loss of cell adhesion and increased metastatic potential in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNND1 Knockout HEK293 Cell Line | EDJ-KQ1348 | Human | 1500 | Details Get a Quote |
| CTNND1 Knockout A-549 Cell Line | EDJ-KQ19478 | Human | 1500 | Details Get a Quote |
| CTNND1 Knockout HCT 116 Cell Line | EDJ-KQ20822 | Human | 1500 | Details Get a Quote |
| CTNND1 Knockout HeLa Cell Line | EDJ-KQ20823 | Human | 1500 | Details Get a Quote |
