ACY1 - aminoacylase 1 Gene

Also Known as ACY-1; ACY1D; HEL-S-5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 95

About ACY1

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:51,983,535-51,989,197 (from NCBI)

This gene has 29 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 217.1), duodenum (RPKM 77.7) and 7 other tissues.

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]

ACY1 Products (5)

mRNA	Protein	Name
NM_000666.3	NP_000657.1	aminoacylase-1 isoform a
NM_001198895.2	NP_001185824.1	aminoacylase-1 isoform a
NM_001198896.2	NP_001185825.1	aminoacylase-1 isoform b
NM_001198897.2	NP_001185826.1	aminoacylase-1 isoform c
NM_001198898.2	NP_001185827.1	aminoacylase-1 isoform d

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables aminoacylase activity	IDA IDA: Inferred from direct assay	12933810	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	21082674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACY1 Protein Structure

Peptidase_M20

M20_dimer

0
100
200
300
408 a.a.

Protein Preferred Names	Protein Names
aminoacylase-1	N-acyl-L-amino-acid amidohydrolase

ACY1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACY1	Q03154	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
Intra	ACY1	Q03154	TRIM33	Homo sapiens	Q9UPN9	Anti Tag CoIP	33961781
Intra	ACY1	Q03154	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	ACY1	Q03154	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	25502805
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Pooling	16189514
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Validated Y2H	32296183
Intra	ACY1	Q03154	TENT5B	Homo sapiens	Q96A09	Validated Y2H	32296183
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Prey Pooling	32296183
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	32296183
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H	21516116
Intra	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACY1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75576	Aminoacylase-1 Protein, Human (sf9, His)	Q03154 (M1-S408)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Aminoacylase 1 Deficiency	ACY1D Deficiency Of The Aminoacylase-1 Enzyme Acy1 Deficiency Neurological Conditions Associated With Aminoacylase 1 Deficiency N-Acyl-L-Amino Acid Amidohydrolase Deficiency Aminoacylase-1 Deficiency Encephalopathy Associated With Aminoacylase 1 Deficiency
Syringomyelia	Hydromyelia
Charcot-Marie-Tooth Disease, Axonal, Type 2cc	Charcot-Marie-Tooth Disease Axonal Type 2cc CMT2CC Charcot-Marie-Tooth Neuropathy, Type 2cc Charcot-Marie-Tooth Neuropathy Type 2cc Charcot-Marie-Tooth Disease 2cc
Hyperprolinemia, Type I	Proline Oxidase Deficiency Hyperprolinemia Type 1 HYRPRO1 Hpi Hyperprolinemia Type I Hyperprolinemia 1 Proline Dehydrogenase Deficiency
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00254	ACY1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18904	Acy1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25395	Acy1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACY1	RGD	RGD:2030
Mus musculus	ACY1	MGD	MGI:87913
Others	ACY1	NCBI