ACY1

GENE INFORMATION

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Gene name

ACY1

Synonyms

Description

aminoacylase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

3 (Chromosome progress)

Cytoband

p21.2

Chromosome location (bp)

52009066 - 52023213

Ensembl

ENSG00000243989 (version 73.37)

Entrez gene

95

UniProt

Q03154 (UniProt - Evidence at protein level)

neXtProt

NX_Q03154

Antibodypedia

ACY1 antibodies
 

PROTEIN VIEW

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ACY1-001
 
ACY1-005
 
ACY1-006
 
ACY1-007
 
ACY1-008
 
ACY1-011
 
ACY1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACY1-001 ENSP00000384296
ENST00000404366
Q03154
Show all »
Show » Show » 408 45.9 No 0
ACY1-005 ENSP00000418683
ENST00000491318
F8WC59
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Show » 201 22.7 No 0
ACY1-006 ENSP00000419262
ENST00000476854
Q03154
Show all »
Show » Show » 343 38.6 No 0
ACY1-007 ENSP00000417056
ENST00000476351
Q03154
Show all »
Show » Show » 373 42.2 No 0
ACY1-008 ENSP00000417618
ENST00000494103
Q03154
Show all »
Show » Show » 336 37.6 No 0
ACY1-011 ENSP00000419830
ENST00000469863
C9JYZ0
Show all »
Show » 228 25.8 No 0
ACY1-201 ENSP00000390557
ENST00000458031
B4DNW0
Show all »
Show » 498 56 No 0