catalog number :
MBS203640
products type :
Recombinant Protein
products full name :
ACY1, 1-408aa, Human, His tag, E Coli
products short name :
ACY1
products name syn :
ACY1D; ACYLASE; Aminoacylase 1
other names :
aminoacylase-1 isoform a; Aminoacylase-1; aminoacylase-1; N-acyl-L-amino-acid amidohydrolase; epididymis secretory protein Li 5; aminoacylase 1; N-acyl-L-amino-acid amidohydrolase
products gene name :
ACY1
other gene names :
ACY1; ACY1; ACY-1; ACY1D; HEL-S-5; ACY-1
uniprot entry name :
ACY1_HUMAN
sequence :
MGSSHHHHHH SSGLVPRGSH MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP TDAFTVFYSE RSPWWVRVTS TGRPGHASRF MEDTAAEKLH KVVNSILAFR EKEWQRLQSN PHLKEGSVTS VNLTKLEGGV AYNVIPATMS ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV CKDMNLTLEP EIMPAATDNR YIRAVGVPAL GFSPMNRTPV LLHDHDERLH EAVFLRGVDI YTRLLPALAS VPALPSDS
purity :
> 90% by SDS - PAGE
form :
Liquid. 20mM Tris-HCl buffer (pH8.0) containing 10% glycerol, 1mM DTT
concentration :
0.5 mg/ml (determined by Bradford assay)
storage stability :
Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.
tested application :
SDS-PAGE
other info1 :
Antigen Species: Human. Tag: His-tag
other info2 :
Expression System: E Coli
products categories :
Enzymes & Proteases
products description :
Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D). 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. Recombinant human ACY1 protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
products references :
Sass J.O., et al. (2006) Am. J. Hum. Genet. 78:401-409. Van Coster RN., et al. (2005) Biochem Biophys Res Commun. 338(3):1322-6.
ncbi gb acc num :
NM_000666.2
ncbi mol weight :
48.0kDa (428aa) confirmed by MALDI-TOF
ncbi pathways :
2-Oxocarboxylic Acid Metabolism Pathway (714485); 2-Oxocarboxylic Acid Metabolism Pathway (717400); Aflatoxin Activation And Detoxification Pathway (1127511); Arginine And Proline Metabolism Pathway (82957); Arginine And Proline Metabolism Pathway (323); Biological Oxidations Pathway (105698); Biosynthesis Of Amino Acids Pathway (790012); Biosynthesis Of Amino Acids Pathway (795174); Defective ACY1 Causes Encephalopathy Pathway (1127638); Disease Pathway (530764)
ncbi 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]
uniprot summary :
ACY1: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D). 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. Belongs to the peptidase M20A family. Protein type: EC 3.5.1.14; Hydrolase; Amino Acid Metabolism - arginine and proline. Chromosomal Location of Human Ortholog: 3p21.1. Cellular Component: cytosol. Molecular Function: metallopeptidase activity; metal ion binding; aminoacylase activity. Biological Process: amino acid metabolic process; xenobiotic metabolic process; proteolysis. Disease: Aminoacylase 1 Deficiency