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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CTNNAL1
catenin alpha like 1
Chromosome 9 · 9q31.3
NCBI Gene: 8727Ensembl: ENSG00000119326.16HGNC: HGNC:2512UniProt: B3KMX6
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingRho protein signal transductioncell adhesionAbnormality of the skeletal systematrial fibrillationdiabetes mellitusAlzheimer disease
✦AI Summary

CTNNAL1 (catenin alpha like 1) is an adhesion molecule that functions as a scaffold protein modulating Rho pathway signaling, particularly through interactions with ARHGEF1 and YAP 1. Primary to its function is maintenance of airway epithelial structural integrity via the RhoA/ROCK1 pathway, regulating expression of adhesion molecules including E-cadherin, integrin β1, and integrin β4 2. CTNNAL1 promotes bronchial epithelial cell wound repair and proliferation through fibronectin-mediated focal adhesion kinase (FAK) phosphorylation 3. Mechanistically, CTNNAL1 inhibits epithelial-mesenchymal transition (EMT) by repressing Twist1 expression and reducing TGF-β1 secretion 4. It regulates mucus hypersecretion in asthma through YAP-ROCK2 signaling and controls CFTR expression via ROCK1-CAL pathways 56. Transcription of CTNNAL1 is induced during acute oxidative stress through AP-2α and LEF-1 recruitment to its promoter 7. Clinically, CTNNAL1 dysregulation associates with multiple diseases: genetic variants in CTNNAL1 confer susceptibility to Hirschsprung disease 1, while downregulation contributes to asthma pathogenesis through enhanced airway inflammation and mucus hypersecretion 56. CTNNAL1 was identified as a shared Rho-pathway biomarker linking postmenopausal osteoporosis and periodontitis 8.

Sources cited
1
CTNNAL1 maps to RET-dependent HSCR susceptibility loci; genetic variants in CTNNAL1 associated with Hirschsprung disease in Han Chinese population
PMID: 32139661
2
CTNNAL1 inhibits ozone-induced airway EMT by repressing Twist1 mRNA expression and reducing TGF-β1 levels
PMID: 29791759
3
CTNNAL1 regulates mucus hypersecretion in asthma through YAP-ROCK2 pathway; CTNNAL1 deficiency increases goblet cell hyperplasia and MUC5AC expression
PMID: 35092120
4
CTNNAL1 deficiency suppresses CFTR expression through ROCK1-CAL signaling pathway in HDM-induced asthma
PMID: 37715489
5
CTNNAL1 maintains airway epithelial structural integrity through RhoA/ROCK1 pathway, regulating E-cadherin and integrin expression
PMID: 38602002
6
CTNNAL1 promotes wound repair and proliferation of bronchial epithelial cells through fibronectin-mediated FAK phosphorylation
PMID: 17647259
7
CTNNAL1 identified as shared Rho-pathway biomarker dysregulated in both postmenopausal osteoporosis and periodontitis
PMID: 40760141
8
CTNNAL1 transcription is upregulated during acute ozone stress, mediated by AP-2α and LEF-1 recruitment to CTNNAL1 promoter
PMID: 22359570
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.17Weak
diabetes mellitusOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.14Weak
open-angle glaucomaOpen Targets
0.14Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
substance abuseOpen Targets
0.08Suggestive
heart failureOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.07Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
maple syrup urine disease, mild variantOpen Targets
0.06Suggestive
sarcosinemiaOpen Targets
0.06Suggestive
schizophreniaOpen Targets
0.06Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.05Suggestive
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
0.05Suggestive
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.04Suggestive
Rotor syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTL7AProtein interaction95%ACTL7BProtein interaction94%AKAP13Protein interaction86%DMDProtein interaction75%DTNAProtein interaction75%SNTB2Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Heart
88%
Bone Marrow
47%
Lung
32%
Brain
23%
Liver
17%
Gene Interaction Network
Click a node to explore
CTNNAL1ACTL7AACTL7BAKAP13DMDDTNASNTB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UBT7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.57–0.90]
RankingsWhere CTNNAL1 stands among ~20K protein-coding genes
  • #7,353of 20,598
    Most Researched63
  • #8,090of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedCTNNAL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic variants in
PMID: 32139661
Aging (Albany NY) · 2020
1.00
2
CTNNAL1 inhibits ozone-induced epithelial-mesenchymal transition in human bronchial epithelial cells.
PMID: 29791759
Exp Physiol · 2018
0.90
3
CTNNAL1 participates in the regulation of mucus overproduction in HDM-induced asthma mouse model through the YAP-ROCK2 pathway.
PMID: 35092120
J Cell Mol Med · 2022
0.80
4
CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
PMID: 37715489
Acta Biochim Biophys Sin (Shanghai) · 2023
0.70
5
CTNNAL1 promotes the structural integrity of bronchial epithelial cells through the RhoA/ROCK1 pathway.
PMID: 38602002
Acta Biochim Biophys Sin (Shanghai) · 2024
0.60