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 |
|---|---|---|---|---|---|
Nameactinin alpha 1 OMIM IDMIM:102575 Ensembl IDEnsembl:ENSG00000072110 HGNC IDHGNC:HGNC:163 PHARMGKB IDPA24 Map Location14q24.1|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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACTN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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