This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18.

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Immunocytochemical staining of HepG2 cells with aminoacylase 1 antibody . Nuclei were stained blue with DAPI; aminoacylase 1 was stained magenta with Alexa Fluor® 647. Images were taken using Leica stellaris 5. Protein abundance based on laser Intensity and smart gain: Low. Scale bar, 20 μm.

Western blotting analysis using aminoacylase 1 antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with aminoacylase 1 antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

Western blotting analysis using aminoacylase 1 antibody . Aminoacylase 1 expression in wild-type (WT) and aminoacylase 1 (ACY1) knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with aminoacylase 1 antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

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