CTNNA1
Summary: This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
catenin alpha 1 | MIM:116805 | Ensembl:ENSG00000044115 | HGNC:HGNC:2509 | PA27008 | 5q31.2 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in CTNNA1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IEA | GO:0001669 | acrosomal vesicle |
CC | IDA | GO:0005794 | Golgi apparatus |
CC | TAS | GO:0005829 | cytosol |
CC | IDA | GO:0005886 | plasma membrane |
CC | TAS | GO:0005886 | plasma membrane |
CC | IDA | GO:0005911 | cell-cell junction |
CC | IEA | GO:0005915 | zonula adherens |
CC | HDA | GO:0005925 | focal adhesion |
CC | IEA | GO:0014704 | intercalated disc |
CC | IEA | GO:0015629 | actin cytoskeleton |
CC | IDA | GO:0016342 | catenin complex |
CC | IEA | GO:0016600 | flotillin complex |
CC | IEA | GO:0030027 | lamellipodium |
CC | IDA | GO:0030054 | cell junction |
CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
BP | IEA | GO:0001541 | ovarian follicle development |
BP | IEA | GO:0007015 | actin filament organization |
BP | NAS | GO:0007155 | cell adhesion |
BP | IEA | GO:0007163 | establishment or maintenance of cell polarity |
BP | IEA | GO:0007406 | negative regulation of neuroblast proliferation |
BP | IEA | GO:0007568 | aging |
BP | IEA | GO:0008584 | male gonad development |
BP | IEA | GO:0016264 | gap junction assembly |
BP | IEA | GO:0031103 | axon regeneration |
BP | TAS | GO:0034332 | adherens junction organization |
BP | IEA | GO:0034613 | cellular protein localization |
BP | IEA | GO:0042475 | odontogenesis of dentin-containing tooth |
BP | NAS | GO:0043297 | apical junction assembly |
BP | IEA | GO:0043627 | response to estrogen |
BP | IEA | GO:0045880 | positive regulation of smoothened signaling pathway |
BP | TAS | GO:0051149 | positive regulation of muscle cell differentiation |
BP | IEA | GO:0051291 | protein heterooligomerization |
BP | IDA | GO:0071681 | cellular response to indole-3-methanol |
BP | IEA | GO:0090136 | epithelial cell-cell adhesion |
BP | IEA | GO:2000146 | negative regulation of cell motility |
BP | IEA | GO:2001045 | negative regulation of integrin-mediated signaling pathway |
BP | IEA | GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand |
BP | IEA | GO:2001241 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand |
MF | HDA | GO:0003723 | RNA binding |
MF | IEA | GO:0005198 | structural molecule activity |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0008013 | beta-catenin binding |
MF | IPI | GO:0017166 | vinculin binding |
MF | IPI | GO:0042802 | identical protein binding |
MF | IPI | GO:0045295 | gamma-catenin binding |
MF | HDA | GO:0045296 | cadherin binding |
MF | IPI | GO:0045296 | cadherin binding |
MF | IEA | GO:0046982 | protein heterodimerization activity |
MF | IEA | GO:0051015 | actin filament binding |
Gene expression in normal tissue: CTNNA1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CTNNA1
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-1500931 | Cell-Cell communication |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-194138 | Signaling by VEGF |
reactome | R-HSA-194315 | Signaling by Rho GTPases |
reactome | R-HSA-195258 | RHO GTPase Effectors |
reactome | R-HSA-375170 | CDO in myogenesis |
reactome | R-HSA-375170 | CDO in myogenesis |
reactome | R-HSA-418990 | Adherens junctions interactions |
reactome | R-HSA-421270 | Cell-cell junction organization |
reactome | R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
reactome | R-HSA-446728 | Cell junction organization |
reactome | R-HSA-5218920 | VEGFR2 mediated vascular permeability |
reactome | R-HSA-525793 | Myogenesis |
reactome | R-HSA-525793 | Myogenesis |
reactome | R-HSA-5626467 | RHO GTPases activate IQGAPs |
reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
wikipathways | WP2864 | Apoptosis-related network due to altered Notch3 in ovarian cancer |
wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
wikipathways | WP3946 | White fat cell differentiation |
wikipathways | WP4149 | White fat cell differentiation |
wikipathways | WP4155 | Endometrial cancer |
netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
pid | ajdiss_2pathway | Posttranslational regulation of adherens junction stability and dissassembly |
pid | arf6_traffickingpathway | Arf6 trafficking events |
pid | cdc42_pathway | CDC42 signaling events |
pid | ecadherin_keratinocyte_pathway | E-cadherin signaling in keratinocytes |
pid | ecadherin_nascentaj_pathway | E-cadherin signaling in the nascent adherens junction |
pid | ecadherin_stabilization_pathway | Stabilization and expansion of the E-cadherin adherens junction |
pid | met_pathway | Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) |
pid | ncadherinpathway | N-cadherin signaling events |
pid | nectin_pathway | Nectin adhesion pathway |
pid | rac1_pathway | RAC1 signaling pathway |
pid | vegfr1_2_pathway | Signaling events mediated by VEGFR1 and VEGFR2 |
kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
kegg | hsa04670 | Leukocyte transendothelial migration - Homo sapiens (human) |
kegg | hsa05100 | Bacterial invasion of epithelial cells - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05213 | Endometrial cancer - Homo sapiens (human) |
kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CTNNA1