ACTN1
Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| actinin alpha 1 | MIM:102575 | Ensembl:ENSG00000072110 | HGNC:HGNC:163 | PA24 | 14q24.1|14q22-q24 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ACTN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0003725 | double-stranded RNA binding |
| MF | IDA | GO:0005178 | integrin binding |
| MF | IPI | GO:0005178 | integrin binding |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0017166 | vinculin binding |
| MF | IPI | GO:0017166 | vinculin binding |
| MF | IDA | GO:0030374 | nuclear receptor transcription coactivator activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0044325 | ion channel binding |
| MF | IDA | GO:0051015 | actin filament binding |
| CC | IDA | GO:0001725 | stress fiber |
| CC | IDA | GO:0001726 | ruffle |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005622 | intracellular |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005884 | actin filament |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005903 | brush border |
| CC | IDA | GO:0005911 | cell-cell junction |
| CC | IEA | GO:0005916 | fascia adherens |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | IDA | GO:0005925 | focal adhesion |
| CC | IMP | GO:0005925 | focal adhesion |
| CC | IEA | GO:0030018 | Z disc |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
| CC | TAS | GO:0031143 | pseudopodium |
| CC | IDA | GO:0042995 | cell projection |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | TAS | GO:0002576 | platelet degranulation |
| BP | IMP | GO:0007015 | actin filament organization |
| BP | IMP | GO:0030168 | platelet activation |
| BP | IMP | GO:0030220 | platelet formation |
| BP | IMP | GO:0036344 | platelet morphogenesis |
| BP | NAS | GO:0042981 | regulation of apoptotic process |
| BP | IMP | GO:0048041 | focal adhesion assembly |
| BP | IEA | GO:0051017 | actin filament bundle assembly |
| BP | IMP | GO:0051271 | negative regulation of cellular component movement |
| BP | IMP | GO:0051639 | actin filament network formation |
| BP | IEA | GO:0051764 | actin crosslink formation |
| BP | IMP | GO:0070527 | platelet aggregation |
| BP | IEA | GO:1903508 | positive regulation of nucleic acid-templated transcription |
Gene expression in normal tissue: ACTN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACTN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | ecmpathway | erk and pi-3 kinase are necessary for collagen binding in corneal epithelia |
| biocarta | integrinpathway | integrin signaling pathway |
| biocarta | ucalpainpathway | ucalpain and friends in cell spread |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-3000170 | Syndecan interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-373753 | Nephrin family interactions |
| reactome | R-HSA-446353 | Cell-extracellular matrix interactions |
| reactome | R-HSA-446388 | Regulation of cytoskeletal remodeling and cell spreading by IPP complex components |
| reactome | R-HSA-446728 | Cell junction organization |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
| wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04670 | Leukocyte transendothelial migration - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| kegg | hsa05322 | Systemic lupus erythematosus - Homo sapiens (human) |
| pid | ecadherin_stabilization_pathway | Stabilization and expansion of the E-cadherin adherens junction |
| pid | fak_pathway | Signaling events mediated by focal adhesion kinase |
| pid | ilk_pathway | Integrin-linked kinase signaling |
| pid | syndecan_4_pathway | Syndecan-4-mediated signaling events |
| netpath | Pathway_EGFR1 | EGFR1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACTN1
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