Recombinant Human Aminoacylase-1 (ACY1)

Uniprot Id

Q03154

Target Species

Human

Target Name

ACY1

Target Full Name

Aminoacylase-1

Target Function

Catalyzes the hydrolysis of N-acetylated amino acids to acetate and free amino acids.

Target Involvement

Aminoacylase-1 deficiency (ACY1D)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Peptidase M20A family

Target Tissue Specificity

Expression is highest in kidney, strong in brain and weaker in placenta and spleen.

Target Research Area

Signal Transduction

Target Synonyms

ACY 1; ACY-1; Acy1; ACY1_HUMAN; ACY1D; ACYLASE; Acylase I; Aminoacylase 1; Aminoacylase-1; EC 3.5.1.14; epididymis secretory protein Li 5; HEL-S-5; N acyl L amino acid amidohydrolase; N-acyl-L-amino-acid amidohydrolase; OTTHUMP00000212459; OTTHUMP00000212462; OTTHUMP00000212463; OTTHUMP00000212464; OTTHUMP00000212465

Target Background

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.