CTNNA1
Catenin Alpha 1: A Key Adherens Junction Protein and Tumor Suppressor
Gene Information Card
| Symbol | CTNNA1 |
|---|---|
| Full Name | Catenin Alpha 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 1495 ncbi.nlm.nih.gov/gene/1495 |
| Ensembl ID | ENSG00000044115 |
| UniProt ID | P35221 |
| OMIM ID | 116805 |
| HGNC ID | 2509 |
| Aliases | CAP102, FLJ36872, MGC104238, MGC111102, MGC138237, MGC138239 |
Description
The CTNNA1 gene encodes alpha-catenin, a 102 kDa protein that links the cadherin-catenin complex to the actin cytoskeleton. It is essential for the formation and maintenance of adherens junctions, contributing to cell-cell adhesion, tissue integrity, and suppression of invasion. Loss or mutation of CTNNA1 disrupts cell adhesion and is associated with cancer progression, particularly hereditary diffuse gastric cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Diffuse Gastric Cancer (HDGC) | Loss-of-function mutations in CTNNA1 impair adherens junction formation, leading to increased cell motility and invasion. | ClinVar, PMID: 23322685 |
| Breast Cancer | Reduced CTNNA1 expression correlates with poor prognosis and invasive phenotype due to disrupted cell adhesion. | NCBI Gene, PMID: 10655551 |
| Colorectal Cancer | CTNNA1 downregulation promotes epithelial-mesenchymal transition (EMT) and metastasis. | COSMIC, PMID: 18676829 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.3 | High |
| Liver | 22.1 | High |
| Kidney | 19.5 | Medium |
| Lung | 17.8 | Medium |
| Brain | 12.4 | Medium |
| Pancreas | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast) | 25.6 | High expression |
| A549 (Lung) | 20.3 | Medium expression |
| HepG2 (Liver) | 18.9 | Medium expression |
| HeLa (Cervical) | 15.2 | Medium expression |
| K562 (Leukemia) | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.812C>T (p.Pro271Leu) | Missense | <0.1% | Reduced binding to beta-catenin; associated with HDGC |
| c.1912C>T (p.Arg638*) | Nonsense | <0.1% | Truncated protein; loss of function in HDGC |
| c.2290_2291del (p.Leu764fs) | Frameshift | <0.1% | Premature stop; loss of function in HDGC |
Mutation functional classification
Loss of Function (LOF)
Most CTNNA1 mutations in HDGC are loss-of-function, leading to truncated or unstable alpha-catenin that cannot bind cadherin-catenin complex or actin.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type alpha-catenin function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • cell-cell adhesion | • actin cytoskeleton organization |
| • cadherin binding | • beta-catenin binding |
| • adherens junction assembly | • cell migration |
Pathways
• Cadherin signaling pathway
• Wnt signaling pathway
• Adherens junction
• Epithelial-to-mesenchymal transition
Protein Summary
Alpha-catenin (CTNNA1) is a 906-amino acid protein that forms a complex with beta-catenin and E-cadherin at adherens junctions. It links the cadherin-catenin complex to the actin cytoskeleton via interactions with actin and other cytoskeletal proteins. Alpha-catenin also shuttles to the nucleus to regulate transcription. Loss of alpha-catenin disrupts cell adhesion and promotes invasion, making it a key tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNNA1 Knockout HEK293 Cell Line | EDJ-KQ1411 | Human | 1495 | Details Get a Quote |
| CTNNA1 Knockout HCT 116 Cell Line | EDJ-KQ20949 | Human | 1495 | Details Get a Quote |
| CTNNA1 Knockout HeLa Cell Line | EDJ-KQ20950 | Human | 1495 | Details Get a Quote |
| CTNNA1 Knockout A-549 Cell Line | EDJ-KQ19607 | Human | 1495 | Details Get a Quote |
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