Affinage

CTNNA1

Catenin alpha-1 · UniProt P35221

Round 2 corrected
Length
906 aa
Mass
100.1 kDa
Annotated
2026-04-28
60 papers in source corpus 20 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CTNNA1 encodes αE-catenin, a vinculin-homologous cytoskeletal linker that bridges the E-cadherin–β-catenin complex to the actin filament network through direct binding to β-catenin, α-actinin, and ZO-1, thereby organizing adherens junctions and controlling intercellular adhesion (PMID:1904011, PMID:7706414, PMID:7790378, PMID:9214391). UBE2O-mediated ubiquitylation of cytosolic CTNNA1 acts as a molecular switch that weakens β-catenin binding while promoting vinculin interaction, redirecting CTNNA1 from cell–cell adhesion to focal adhesion maturation and cell spreading (PMID:40983751). CTNNA1 functions as a tumor suppressor whose biallelic inactivation—through mutation, epigenetic silencing via a PTEN–C/EBPα–Polycomb Repressive Complex 2 axis imposing H3K27me3 and DNA methylation, or nonsense-mediated mRNA decay of truncating alleles—drives invasiveness in colon cancer, myeloid leukemia, and hereditary diffuse gastric cancer (PMID:10023666, PMID:17159988, PMID:20371743, PMID:23208944, PMID:40998418). Germline truncating CTNNA1 variants cause hereditary diffuse gastric cancer, while heterozygous missense mutations cause butterfly-shaped pigment dystrophy of the macula (PMID:23208944, PMID:26691986).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1991 High

    Identification of αE-catenin as a vinculin-homologous, 102 kDa protein that associates with E-cadherin at adherens junctions and links the complex to actin filaments established the molecular identity of the cadherin–cytoskeleton bridge.

    Evidence Biochemical purification from adherens junctions, cDNA cloning, sequence analysis, immunofluorescence in L cells

    PMID:1904011 PMID:1924379

    Open questions at the time
    • Direct actin-binding capability of α-catenin not yet tested with purified components
    • Stoichiometry of the cadherin–catenin complex undefined
  2. 1994 High

    Reconstitution of the cadherin–catenin complex in vitro established the hierarchical assembly (E-cadherin→β-catenin→α-catenin) and showed that α-catenin also links APC–β-catenin to the cytoskeleton, revealing dual upstream inputs converging on CTNNA1.

    Evidence Recombinant protein pulldowns, truncation mapping of β-catenin (residues 120–151), competitive binding assays with APC

    PMID:7706414 PMID:7806582

    Open questions at the time
    • Whether α-catenin binds actin directly or only via intermediaries remained unclear
    • Structural basis of the β-catenin–α-catenin interface not yet determined
  3. 1995 High

    Demonstration that α-actinin coimmunoprecipitates with the cadherin–catenin complex in an α-catenin-dependent, actin-independent manner identified the first specific cytoskeletal partner recruited by CTNNA1.

    Evidence Co-immunoprecipitation with actin-depletion controls in N- and E-cadherin contexts

    PMID:7790378

    Open questions at the time
    • Binding interface between α-catenin and α-actinin not mapped
    • Relative contributions of α-actinin versus other linkers to junction mechanics unknown
  4. 1997 High

    Discovery that ZO-1 binds α-catenin with nanomolar affinity while independently binding actin filaments established ZO-1 as a second actin cross-linker recruited through CTNNA1, and showed this interaction regulates cadherin-dependent cell motility.

    Evidence In vitro direct binding with recombinant proteins (Kd ~0.5 nM), F-actin cosedimentation, motility assays

    PMID:9214391

    Open questions at the time
    • Whether ZO-1 and α-actinin bind α-catenin simultaneously or competitively was not tested
    • In vivo significance of the ZO-1–α-catenin link not established genetically
  5. 1999 High

    Genetic evidence that biallelic CTNNA1 loss is required for acquisition of invasiveness in colon cancer cells established CTNNA1 as a classical two-hit tumor suppressor controlling cell invasion.

    Evidence Mutation analysis of spontaneous invasive HCT-8 variants showing second-allele mutation or exon-skipping

    PMID:10023666

    Open questions at the time
    • Whether CTNNA1 loss drives invasion solely through adhesion loss or also via signaling deregulation was unknown
    • Relevance to in vivo human tumor progression not yet shown
  6. 2006 High

    Epigenetic silencing of the retained CTNNA1 allele in del(5q) myeloid leukemia via promoter DNA methylation and histone deacetylation, with re-expression causing growth arrest and apoptosis, extended the tumor suppressor role of CTNNA1 to hematopoietic malignancies.

    Evidence Promoter methylation analysis, HDAC inhibition, CTNNA1 re-expression in HL-60 cells with proliferation and apoptosis readouts

    PMID:17159988

    Open questions at the time
    • Whether CTNNA1 loss is the critical event at 5q31 or cooperates with other deleted genes was unclear
    • Mechanism by which α-catenin suppresses proliferation in non-epithelial cells not defined
  7. 2009 High

    Identification of a stepwise epigenetic silencing cascade—H3K27me3 deposition followed by DNA methylation—at the CTNNA1 promoter in AML/MDS provided a mechanistic model for progressive CTNNA1 inactivation during leukemia evolution.

    Evidence ChIP for H3K27me3 correlated with promoter methylation across 146 AML and 31 MDS cases

    PMID:19826047

    Open questions at the time
    • The Polycomb complex responsible for H3K27me3 at this locus was not yet identified
    • Whether the stepwise model applies to solid tumors was unknown
  8. 2010 High

    Placing CTNNA1 downstream of a PTEN–mTOR–C/EBPα axis, where the p30 C/EBPα isoform recruits PRC2 to impose H3K27me3 silencing, provided an upstream signaling mechanism for CTNNA1 epigenetic repression and linked PTEN loss to invasive phenotypes.

    Evidence ChIP, promoter binding assays, Pten-knockout mouse and zebrafish models, epistasis in primary leukemia-initiating cells

    PMID:20371743

    Open questions at the time
    • Whether pharmacological PTEN restoration can reactivate CTNNA1 therapeutically was not tested
    • Whether this axis operates in epithelial cancers is unknown
  9. 2013 High

    Identification of a germline truncating CTNNA1 allele in a CDH1-wild-type hereditary diffuse gastric cancer pedigree, with biallelic loss in tumors, established CTNNA1 as a bona fide HDGC susceptibility gene.

    Evidence Exome sequencing, LOH analysis in endoscopic biopsies and tumors

    PMID:23208944

    Open questions at the time
    • Penetrance and genotype–phenotype correlations for CTNNA1 HDGC carriers were not defined
    • Functional consequence of truncation versus missense variants not systematically assessed
  10. 2015 High

    Demonstration that heterozygous CTNNA1 missense mutations cause butterfly-shaped pigment dystrophy, with a mouse model showing RPE cell shedding and multinucleation, revealed a distinct disease mechanism involving adhesion and cytokinesis defects in retinal pigment epithelium.

    Evidence Human exome/genome sequencing, Ctnna1 tvrm5 mouse model phenotyping, electroretinography

    PMID:26691986

    Open questions at the time
    • Structural basis for why missense but not truncating mutations cause retinal disease not explained
    • Whether the cytokinesis defect is α-catenin-autonomous or adhesion-dependent was unclear
  11. 2021 Medium

    Identification of CTNNA1 as an autophagy substrate that negatively regulates YAP1/TAZ signaling revealed a non-junctional signaling function, where autophagy-mediated degradation of α-catenin de-represses Hippo pathway effectors.

    Evidence Autophagy induction/inhibition, YAP/TAZ reporter assays, mathematical modeling

    PMID:34036899

    Open questions at the time
    • The autophagy receptor that targets CTNNA1 for degradation was not identified
    • Whether this mechanism operates in vivo and contributes to tumorigenesis was not tested
    • Single-laboratory finding awaits independent replication
  12. 2025 High

    Discovery that UBE2O ubiquitylates cytosolic CTNNA1 to diminish β-catenin binding and promote vinculin interaction established a post-translational switch redirecting CTNNA1 from cell–cell adhesion to focal adhesion maturation during cell spreading.

    Evidence MS-based interactome of ubiquitylated CTNNA1, ubiquitylation assays, focal adhesion and cell spreading functional assays

    PMID:40983751

    Open questions at the time
    • Specific ubiquitylation sites on CTNNA1 and their individual functional contributions not fully delineated
    • Whether UBE2O-mediated switching occurs in vivo during development or wound healing is untested
  13. 2026 High

    Functional validation that CTNNA1-truncating variants undergo NMD-mediated degradation and are completely null, contrasting with retained partial function of non-truncating variants, resolved the genotype–phenotype relationship for HDGC and quantified an eightfold higher cancer risk for truncating carriers.

    Evidence CRISPR-KO gastric cancer cells, humanized Drosophila rescue model, RT-PCR for NMD, clinical cohort genotype–phenotype analysis

    PMID:40998418 PMID:41760782

    Open questions at the time
    • Whether non-truncating pathogenic variants act via dominant-negative mechanisms is not resolved
    • Optimal clinical surveillance thresholds for non-truncating carriers remain undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis of UBE2O-mediated partner switching, whether the autophagy–YAP1/TAZ axis contributes to CTNNA1-dependent tumorigenesis in vivo, and how tissue-specific isoforms (e.g., brain-specific N-terminally truncated forms) function outside adherens junctions.
  • No structural model of ubiquitylated α-catenin bound to vinculin
  • In vivo validation of the autophagy–CTNNA1–YAP axis is lacking
  • Brain-specific truncated CTNNA1 isoform function remains uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 5 GO:0008092 cytoskeletal protein binding 4 GO:0098631 cell adhesion mediator activity 4 GO:0060090 molecular adaptor activity 3
Localization
GO:0005886 plasma membrane 4 GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2
Pathway
R-HSA-1500931 Cell-Cell communication 7 R-HSA-1643685 Disease 5 R-HSA-162582 Signal Transduction 2 R-HSA-5357801 Programmed Cell Death 2 R-HSA-9612973 Autophagy 1
Partners
ACTN1APCCDH1CTNNB1TJP1UBE2OVCL
Complex memberships
APC–β-catenin–α-catenin complexE-cadherin–β-catenin–α-catenin complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1991 Alpha-catenin (CAP102/CTNNA1) was identified as a 102 kDa protein that associates with E-cadherin at adherens junctions and links the cadherin complex to the actin filament network. Sequence analysis revealed significant homology to vinculin, establishing CTNNA1 as a founding member of a vinculin-related protein family. In cadherin-negative L cells, alpha-catenin is diffusely cytoplasmic, but introduction of E-cadherin recruits it to membrane cell-contact sites. Biochemical purification from isolated adherens junctions, cDNA cloning, sequence analysis, immunoprecipitation, immunofluorescence in L cells Cell / PNAS High 1904011 1924379
1994 The cadherin-catenin complex was reconstituted in vitro with recombinant proteins, demonstrating that E-cadherin cannot directly associate with alpha-catenin but interacts with beta-catenin, which in turn assembles a 1:1 heterodimer with alpha-catenin. The alpha-catenin binding site on beta-catenin was mapped to amino acid positions 120–151. This established the hierarchical assembly: E-cadherin–beta-catenin–alpha-catenin. Recombinant protein expression in E. coli, in vitro combinatorial protein-protein interaction (pulldown/reconstitution), truncation mapping Journal of cell science High 7706414
1994 Alpha-catenin mediates the interaction of both the E-cadherin/beta-catenin complex and the APC/beta-catenin complex with the cytoskeleton via its binding to the NH2-terminal domain of beta-catenin, demonstrating that CTNNA1 serves as a cytoskeletal linker downstream of beta-catenin regardless of whether beta-catenin is bound to E-cadherin or APC. Co-immunoprecipitation, competitive binding assays, biochemical fractionation The Journal of cell biology High 7806582
1994 The human CTNNA1 gene was cloned and characterized: it encodes a 906 amino acid, 102 kDa protein with 99.2% homology to murine alpha-catenin, is ubiquitously expressed, and was chromosomally mapped to band 5q31 by fluorescent in situ hybridization. cDNA isolation, exon mapping, RT-PCR expression analysis, fluorescence in situ hybridization (FISH) Cytogenetics and cell genetics Medium 8404069
1995 Alpha-actinin colocalizes with and coimmunoprecipitates with the cadherin/catenin complex in an alpha-catenin-dependent, actin-independent manner, establishing alpha-catenin as a direct physical bridge between the cadherin/catenin complex and alpha-actinin in the cytoskeleton. Coimmunoprecipitation, immunofluorescence colocalization, actin-depletion controls The Journal of cell biology High 7790378
1997 ZO-1 directly binds alpha-catenin (Kd ~0.5 nM) through its N-terminal half (N-ZO-1), while the C-terminal half of ZO-1 binds actin filaments (Kd ~10 nM), thereby functioning as a cross-linker between the cadherin/catenin complex and the actin cytoskeleton via direct interaction with CTNNA1. Expression of N-ZO-1 suppressed cadherin-dependent intercellular motility without affecting cell aggregation. Recombinant protein production in insect Sf9 cells, in vitro direct binding assays (GST pulldown), co-immunoprecipitation, F-actin cosedimentation, cell aggregation and motility assays The Journal of cell biology High 9214391
1999 CTNNA1 functions as an invasion-suppressor gene in human colon cancer cells following a two-hit model: one allele of CTNNA1 is mutated in HCT-8 colon cancer cells, and spontaneous invasive variants all carry a mutation or exon-skipping in the second allele, demonstrating that complete loss of CTNNA1 is required for acquisition of invasiveness. Mutation analysis of cancer cell line variants, loss-of-function genetic analysis, invasion assays Oncogene High 10023666
2006 CTNNA1 is epigenetically silenced in myeloid leukemia-initiating cells with del(5q): the retained allele's promoter is suppressed by both DNA methylation and histone deacetylation. Restoration of CTNNA1 expression in HL-60 cells resulted in reduced proliferation and apoptotic cell death, establishing CTNNA1 as a tumor suppressor in hematopoietic stem cells. Gene expression profiling, promoter methylation analysis, histone deacetylation studies, CTNNA1 re-expression (gain-of-function), proliferation and apoptosis assays Nature medicine High 17159988
2009 Progressive epigenetic inactivation of CTNNA1 in AML/MDS involves sequential acquisition of repressive histone marks (H3K27me3) followed by DNA methylation at the promoter. The most repressive chromatin state correlates with promoter CpG methylation and lowest CTNNA1 expression, suggesting a stepwise epigenetic silencing mechanism in leukemia progression. Methylation-specific analysis (146 AML, 31 MDS cases), chromatin immunoprecipitation (ChIP) for H3K27me3, gene expression analysis Cancer research High 19826047
2010 An evolutionarily conserved PTEN–C/EBPα–CTNNA1 axis was identified: PTEN-mTOR signaling controls the p42/p30 C/EBPα isoform ratio, which determines which isoform binds the CTNNA1 promoter. p30 C/EBPα recruits polycomb repressive complex 2 to impose H3K27me3-mediated transcriptional repression of CTNNA1, whereas p42 C/EBPα promotes H3K4me3 and active CTNNA1 transcription. Loss of Pten in mice and zebrafish reduces alpha-catenin protein and induces myeloid progenitor invasiveness. ChIP for H3K27me3/H3K4me3, promoter binding assays, Pten knockout mouse and zebrafish models, frameshift mutation analysis in primary leukemia-initiating cells (LICs), epistasis analysis Blood High 20371743
2011 Bidirectional promoters shared between CTNNA1 and the antisense LRRTM2 gene drive alternative CTNNA1 transcripts in the nervous system that produce N-terminally truncated CTNNA1 proteins lacking the β-catenin interaction domain, revealing a brain-specific isoform of CTNNA1 incapable of engaging the canonical cadherin-catenin complex. Promoter mapping, RT-PCR, expression analysis in brain tissues, protein isoform characterization Biochemical and biophysical research communications Medium 21708131
2013 A germline truncating allele of CTNNA1 was identified in a hereditary diffuse gastric cancer (HDGC) pedigree without CDH1 mutations. In invasive diffuse gastric cancers and signet ring cells from family members, the remaining CTNNA1 allele was silenced, demonstrating biallelic loss consistent with a tumor suppressor mechanism. Exome sequencing, loss-of-heterozygosity analysis in tumors and endoscopic biopsies, somatic mutation screening The Journal of pathology High 23208944
2015 Heterozygous missense mutations in CTNNA1 cause butterfly-shaped pigment dystrophy (macular dystrophy). A Ctnna1 missense mutation in the tvrm5 mouse model caused increased RPE cell shedding, formation of large multinucleated RPE cells, and decreased light-activated responses, indicating that CTNNA1 is required for RPE intercellular adhesion and normal cytokinesis. Exome/genome sequencing in human families, chemically induced mouse mutant characterization, morphological studies (cell shedding, multinucleation), electroretinography Nature genetics High 26691986
2016 The pseudogene CTNNAP1 competes with CTNNA1 for miR-141, acting as a competing endogenous RNA (ceRNA). Downregulation of CTNNAP1 in colorectal cancer reduces CTNNA1 expression; overexpression of either CTNNAP1 or CTNNA1 inhibits cell proliferation and induces G0/G1 cell cycle arrest in vitro and suppresses tumor growth in vivo. ceRNA/miRNA competition assays, gain-of-function overexpression, cell cycle analysis (flow cytometry), xenograft tumor model Oncotarget Medium 27487124
2021 CTNNA1 acts as an autophagy substrate and a negative regulator of YAP1/TAZ (WWTR1) transcriptional co-factors. When autophagy is inhibited, CTNNA1 levels rise and suppress YAP1/TAZ activity; when autophagy is induced, CTNNA1 is degraded, releasing YAP1/TAZ inhibition. Cell-type-specific responses to autophagy perturbations are determined by initial levels of alpha-catenins (CTNNA1 and CTNNA3). Autophagy inhibition/induction experiments, YAP1/TAZ reporter assays, mathematical modeling integrated with experimental data, immunoblot quantification Autophagy Medium 34036899
2025 UBE2O, a hybrid E2/E3 ubiquitin enzyme, selectively interacts with and ubiquitylates cytosolic CTNNA1 in a phosphorylation-independent manner. Mass spectrometry-based interactome analysis revealed that ubiquitylation of CTNNA1 diminishes its interaction with β-catenin while enabling interaction with vinculin, acting as a molecular switch that redirects CTNNA1 from cell-cell adhesion functions to promotion of focal adhesion maturation, cell extension, and matrix adhesion during cell spreading. Co-immunoprecipitation, MS-based interactome of ubiquitylated CTNNA1, ubiquitylation assays, focal adhesion maturation assays, cell spreading assays EMBO reports High 40983751
2026 CTNNA1-truncating variants produce transcripts degraded by nonsense-mediated mRNA decay (NMD), causing loss of αE-catenin protein in diffuse gastric cancers. In a humanized Drosophila model, truncating CTNNA1 transcripts failed to rescue loss of endogenous Drosophila alpha-catenin, in contrast to non-truncating variants, demonstrating that truncating variants are functionally null and that the NMD-mediated loss of alpha-catenin is the pathophysiological mechanism in hereditary diffuse gastric cancer. DGC risk is eightfold higher for truncating versus non-truncating carriers. CRISPR/Cas9 CTNNA1-knockout gastric cancer cells, humanized Drosophila model with tissue-specific RNAi and CRISPR, RT-PCR for NMD, immunohistochemistry for αE-catenin loss, clinical cohort genotype-phenotype analysis Gut / European journal of human genetics High 40998418 41760782
2020 Overexpression of CTNNA1 in bladder cancer cells inhibited cell proliferation, migration, invasion, and epithelial-mesenchymal transition (EMT), and promoted apoptosis. CTNNA1 enhanced E-cadherin expression while suppressing N-cadherin, Snail, MMP2, and MMP9, and was positively associated with p53 and apoptosis pathway activation. CTNNA1 overexpression plasmid transfection, CCK-8 proliferation assay, flow cytometry apoptosis analysis, wound-healing and transwell invasion assays, Western blot for EMT markers, xenograft nude mouse model, GSEA pathway analysis Cancer management and research Medium 33364826

Source papers

Stage 0 corpus · 60 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2014 Biological insights from 108 schizophrenia-associated genetic loci. Nature 5878 25056061
2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell 2861 17081983
2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 1718 22658674
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2004 Large-scale characterization of HeLa cell nuclear phosphoproteins. Proceedings of the National Academy of Sciences of the United States of America 1159 15302935
1993 Association of the APC tumor suppressor protein with catenins. Science (New York, N.Y.) 1142 8259519
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2018 VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell discovery 829 29507755
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2015 Gene essentiality and synthetic lethality in haploid human cells. Science (New York, N.Y.) 657 26472760
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
1994 E-cadherin and APC compete for the interaction with beta-catenin and the cytoskeleton. The Journal of cell biology 585 7806582
1997 Involvement of ZO-1 in cadherin-based cell adhesion through its direct binding to alpha catenin and actin filaments. The Journal of cell biology 581 9214391
1995 Interaction of alpha-actinin with the cadherin/catenin cell-cell adhesion complex via alpha-catenin. The Journal of cell biology 558 7790378
2021 Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Nature 532 33845483
2015 Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA oncology 520 26182300
1991 The 102 kd cadherin-associated protein: similarity to vinculin and posttranscriptional regulation of expression. Cell 506 1904011
2011 Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for β-Pix in negative regulation of focal adhesion maturation. Nature cell biology 490 21423176
1994 Assembly of the cadherin-catenin complex in vitro with recombinant proteins. Journal of cell science 457 7706414
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
2022 OpenCell: Endogenous tagging for the cartography of human cellular organization. Science (New York, N.Y.) 432 35271311
2010 Systematic analysis of human protein complexes identifies chromosome segregation proteins. Science (New York, N.Y.) 421 20360068
2005 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome research 409 16344560
2015 Panorama of ancient metazoan macromolecular complexes. Nature 407 26344197
2007 Functional specialization of beta-arrestin interactions revealed by proteomic analysis. Proceedings of the National Academy of Sciences of the United States of America 360 17620599
1991 The uvomorulin-anchorage protein alpha catenin is a vinculin homologue. Proceedings of the National Academy of Sciences of the United States of America 357 1924379
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2013 An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. The Journal of pathology 171 23208944
2006 Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nature medicine 154 17159988
1999 The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells. Oncogene 63 10023666
2015 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nature genetics 43 26691986
1994 Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1). Cytogenetics and cell genetics 40 8404069
2018 Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility. Journal of medical genetics 37 29330337
2009 Progressive chromatin repression and promoter methylation of CTNNA1 associated with advanced myeloid malignancies. Cancer research 37 19826047
2021 Cancer predisposition and germline CTNNA1 variants. European journal of medical genetics 36 34425242
2020 Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics 34 32051609
2010 An evolutionarily conserved PTEN-C/EBPalpha-CTNNA1 axis controls myeloid development and transformation. Blood 33 20371743
2018 Clinical implications of CTNNA1 germline mutations in asymptomatic carriers. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 32 30515673
2016 Downregulated pseudogene CTNNAP1 promote tumor growth in human cancer by downregulating its cognate gene CTNNA1 expression. Oncotarget 30 27487124
2005 Expression of Catenin family members CTNNA1, CTNNA2, CTNNB1 and JUP in the primate prefrontal cortex and hippocampus. Brain research. Molecular brain research 27 15857685
1995 Isolation and characterization of a human pseudogene (CTNNAP1) for alpha E-catenin (CTNNA1): assignment of the pseudogene to 5q22 and the alpha E-catenin gene to 5q31. Genomics 22 7601473
2020 α-E-Catenin (CTNNA1) Inhibits Cell Proliferation, Invasion and EMT of Bladder Cancer. Cancer management and research 19 33364826
2017 Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. Investigative ophthalmology & visual science 11 28453600
2002 The human alphaE-catenin gene CTNNA1: mutational analysis and rare occurrence of a truncated splice variant. Biochimica et biophysica acta 11 11997091
2011 Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 isoforms. Biochemical and biophysical research communications 10 21708131
2014 Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results. Molecular cytogenetics 9 25177364
2021 Cell type-specific YAP1-WWTR1/TAZ transcriptional responses after autophagy perturbations are determined by levels of α-catenins (CTNNA1 and CTNNA3). Autophagy 7 34036899
2012 Genetic variations of the CTNNA1 and the CTNNB1 genes in sporadic colorectal cancer in Polish population. Polski przeglad chirurgiczny 7 23399619
2023 Frequency of CDH1, CTNNA1 and CTNND1 Germline Variants in Families with Diffuse and Mixed Gastric Cancer. Cancers 6 37686589
2026 Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls. Gut 4 40998418
2016 CTNNA1 hypermethylation, a frequent event in acute myeloid leukemia, is independently associated with an adverse outcome. Oncotarget 4 27129146
2014 Aberrant hypermethylation of CTNNA1 gene is associated with higher IPSS risk in patients with myelodysplastic syndrome. Clinical chemistry and laboratory medicine 4 25153418
2023 High-grade intraductal carcinoma of the parotid gland harboring CTNNA1::ALK rearrangement: Changes in genetic status using genetic testing during treatment with an ALK inhibitor. Head & neck 3 38018800
2021 Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer. Gastroenterology and hepatology from bed to bench 3 33868605
2025 UBE2O-mediated ubiquitylation directs cytoplasmic CTNNA1 to promote cell-to-ECM adhesions. EMBO reports 1 40983751
2026 Variant-specific functional effects of CTNNA1 in a humanized Drosophila model. European journal of human genetics : EJHG 0 41760782
2025 A Combined Bioinformatics and Clinical Validation Study Identifies MDM2, FKBP5 and CTNNA1 as Diagnostic Gene Signatures for COPD in Peripheral Blood Mononuclear Cells. International journal of molecular sciences 0 41516150