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. [provided by RefSeq, Nov 2010].
Jansen, van Rijswijk, Teubel, van Weerden, Reneman, van den Bemd, Roobol, Bangma, Staal, Jenster: "Profiling of antibody production against xenograft-released proteins by protein microarrays discovers prostate cancer markers." in: Journal of proteome research, Vol. 11, Issue 2, pp. 728-35, (2012) (PubMed).
Sommer, Christensen, Schwenger, Seul, Haas, Olbrich, Omran, Sass: "The molecular basis of aminoacylase 1 deficiency." in: Biochimica et biophysica acta, Vol. 1812, Issue 6, pp. 685-90, (2011) (PubMed).
Cigna, Nicoletti, Durand, Chaix, Giardina, Perrier: "Acylase 1 expression in rat intestinal crypt--villus axis." in: Cell biology international, Vol. 31, Issue 9, pp. 966-73, (2007) (PubMed).
Van Coster, Gerlo, Giardina, Engelke, Smet, De Praeter, Meersschaut, De Meirleir, Seneca, Devreese, Leroy, Herga, Perrier, Wevers, Lissens: "Aminoacylase I deficiency: a novel inborn error of metabolism." in: Biochemical and biophysical research communications, Vol. 338, Issue 3, pp. 1322-6, (2005) (PubMed).