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.
Background References
1. Kunishima S. et. al. ACTN1 mutations cause congenital macrothrombocytopenia. Am. J. Hum. Genet. 92:431-438(2013).
2. Gueguen P. et. al. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. PLoS ONE 8:E74728-E74728(2013).
Subcellular Location
Cell membrane, cytoskeleton, Z line, cell junction, ruffle.
Western blot analysis of alpha Actinin on different lysates with Mouse anti-alpha Actinin antibody (HA601194) at 1/1,000 dilution.
Lane 1: HeLa cell lysate (20 µg/Lane) Lane 2: A431 cell lysate (20 µg/Lane) Lane 3: NIH/3T3 cell lysate (20 µg/Lane) Lane 4: C6 cell lysate (20 µg/Lane) Lane 5: Mouse heart tissue lysate (40 µg/Lane) Lane 6: Rat colon tissue lysate (40 µg/Lane)
Predicted band size: 103 kDa Observed band size: 103 kDa Exposure time: 8 seconds; ECL: K1801; 4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (HA601194) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Mouse IgG - HRP Secondary Antibody (HA1006) at 1/50,000 dilution was used for 1 hour at room temperature.
Western blot analysis of alpha Actinin on different lysates with Mouse anti-alpha Actinin antibody (HA601194) at 1/5,000 dilution.
Lane 1: HeLa cell lysate (20 µg/Lane) Lane 2: A431 cell lysate (20 µg/Lane) Lane 3: A549 cell lysate (20 µg/Lane) Lane 4: HepG2 cell lysate (20 µg/Lane) Lane 5: MCF7 cell lysate (20 µg/Lane) Lane 6: NIH/3T3 cell lysate (20 µg/Lane) Lane 7: PC-12 cell lysate (20 µg/Lane) Lane 8: C6 cell lysate (20 µg/Lane)
Predicted band size: 103 kDa Observed band size: 103 kDa
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (HA601194) at 1/5,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Mouse IgG - HRP Secondary Antibody (HA1006) at 1/50,000 dilution was used for 1 hour at room temperature.
Immunohistochemical analysis of paraffin-embedded human breast tissue with Mouse anti-alpha Actinin antibody (HA601194) at 1/6,000 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA601194) at 1/6,000 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Immunohistochemical analysis of paraffin-embedded human breast carcinoma tissue with Mouse anti-alpha Actinin antibody (HA601194) at 1/6,000 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA601194) at 1/6,000 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
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