Tbio ACY1 Aminoacylase-1

Protein Summary

Description

Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). 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]

Uniprot Accession IDs

• Q03154
• C9J6I6
• C9J9D8
• C9JWD4
• ACY-1

Gene Name

• ACY1

Ensembl ID

• ENST00000404366
• ENSP00000384296
• ENSG00000243989
• ENST00000476351
• ENSP00000417056
• ENST00000476854
• ENSP00000419262
• ENST00000494103
• ENSP00000417618
• ENST00000636358
• ENSP00000490149

Symbol

• ACY-1
• ACY1D
• HEL-S-5

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.79
histone modification site profile	0.79
transcription factor binding site profile	0.67
disease	0.64
PubMedID	0.64

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 121.39   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 436   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 121.39   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 436   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0