Description: Homo sapiens aminoacylase 1 (ACY1), transcript variant 2, mRNA. RefSeq Summary (NM_001198895): 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]. Transcript (Including UTRs) Position: hg19 chr3:52,017,300-52,023,218 Size: 5,919 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr3:52,018,081-52,023,091 Size: 5,011 Coding Exon Count: 14
ID:ACY1_HUMAN DESCRIPTION: RecName: Full=Aminoacylase-1; Short=ACY-1; EC=3.5.1.14; AltName: Full=N-acyl-L-amino-acid amidohydrolase; FUNCTION: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). CATALYTIC ACTIVITY: An N-acyl-L-amino acid + H(2)O = a carboxylate + an L-amino acid. COFACTOR: Binds 2 zinc ions per subunit. SUBUNIT: Homodimer. Interacts with SPHK1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expression is highest in kidney, strong in brain and weaker in placenta and spleen. DISEASE: Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:609924]. ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. SIMILARITY: Belongs to the peptidase M20A family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q03154
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
