This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1).
Background References
1. Dembour A et al. ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature. Eur J Med Genet. 2022 Apr
Subcellular Location
Nucleus, Cytoplasm, cytosol, Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Western blot analysis of ASC1 on different lysates with Rabbit anti-ASC1 antibody (HA721306) at 1/1,000 dilution.
Lane 1: A549 cell lysate Lane 2: Hela cell lysate Lane 3: U87-MG cell lysate Lane 4: 293T cell lysate Lane 5: HL-60 cell lysate Lane 6: HepG2 cell lysate Lane 7: RH-35 cell lysate
Lysates/proteins at 10 µg/Lane.
Predicted band size: 66 kDa Observed band size: 66 kDa
Exposure time: 3 minutes;
10% 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 (HA721306) at 1/1,000 dilution was used in 5% NFDM/TBST at room temperature for 2 hours. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1:300,000 dilution was used for 1 hour at room temperature.
Western blot analysis of ASC1 on different lysates with Rabbit anti-ASC1 antibody (HA721306) at 1/1,000 dilution.
Lane 1: 293T cell lysate (20 µg/Lane) Lane 2: HeLa cell lysate (20 µg/Lane) Lane 3: HepG2 cell lysate (20 µg/Lane) Lane 4: Rat testis tissue lysate (40 µg/Lane)
Predicted band size: 66 kDa Observed band size: 66 kDa
Exposure time: 25 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 (HA721306) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Immunohistochemical analysis of paraffin-embedded rat small intestine tissue with Rabbit anti-ASC1 antibody (HA721306) at 1/200 dilution.
The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH 6.0) (high pressure) for 2 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 (HA721306) at 1/200 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.