ACY1 (aminoacylase 1)

Gene

• Entrez ID: 95
• Gene name: Aminoacylase 1
• Gene symbol: ACY1
• Synonyms: ACY-1, ACY1D, HEL-S-5
• Chromosome: 3
• Chromosome location: 3p21.2
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT705940	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT705941	hsa-miR-96-5p	HITS-CLIP	23313552
MIRT705942	hsa-miR-1271-5p	HITS-CLIP	23313552
MIRT705943	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT705944	hsa-miR-6728-5p	HITS-CLIP	23313552
MIRT705945	hsa-miR-769-3p	HITS-CLIP	23313552
MIRT705946	hsa-miR-450b-3p	HITS-CLIP	23313552
MIRT705947	hsa-miR-6079	HITS-CLIP	23313552
MIRT705948	hsa-miR-4425	HITS-CLIP	23313552
MIRT705949	hsa-miR-92a-1-5p	HITS-CLIP	23313552
MIRT705950	hsa-miR-5187-5p	HITS-CLIP	23313552
MIRT705951	hsa-miR-671-5p	HITS-CLIP	23313552
MIRT705952	hsa-miR-6828-5p	HITS-CLIP	23313552
MIRT705953	hsa-miR-3189-3p	HITS-CLIP	23313552
MIRT705954	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT705955	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT705956	hsa-miR-6743-5p	HITS-CLIP	23313552
MIRT705957	hsa-miR-4688	HITS-CLIP	23313552
MIRT705958	hsa-miR-4323	HITS-CLIP	23313552
MIRT705959	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT705960	hsa-miR-183-5p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004046	Function	Aminoacylase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21044950, 28514442, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Cellular amino acid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0042802	Function	Identical protein binding	IPI	16189514, 21516116, 25502805, 31515488, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674

Other IDs

• MIM: 104620
• HGNC: 177
• e!Ensembl: ENSG00000243989

Protein

• UniProt ID: Q03154
• Protein name: Aminoacylase-1 (ACY-1) (EC 3.5.1.14) (N-acyl-L-amino-acid amidohydrolase)
• Protein function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).
• PDB: 1Q7L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01546	Peptidase_M20	76 → 397	Peptidase family M20/M25/M40	Family
  PF07687	M20_dimer	188 → 302	Peptidase dimerisation domain	Domain

• Sequence:

  MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVV
  TVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDSEGYIYARGAQDMKCVSIQ
  YLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANP
  TDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSN
  PHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEG
  VTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPAL
  GFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS

• Sequence length: 408