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MGP000048

Record overview

MGPD IDMGP000048
Gene ID95
SpeciesHomo sapiens (Human)
Gene Nameaminoacylase 1
Gene Symbol ACY1
SynonymsACY-1; ACY1D; HEL-S-5;
Alternate namesaminoacylase-1; acylase; epididymis secretory protein Li 5; N-acyl-L-amino-acid amidohydrolase;
Chromosome3
Map Location3p21.1
EC Number3.5.1.14
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ACY1

Proteins

aminoacylase-1 isoform a
Refseq ID:NP_001185824
Protein GI:312032403
UniProt ID:Q03154
mRNA ID:NM_001198895
Length:408
RefSeq Status:
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFK
DSEGYIYARGAQDMKCVSIQYLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTS
TGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSNPHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEG
VTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPALGFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALAS
VPALPSDS
 
aminoacylase-1 isoform a
Refseq ID:NP_000657
Protein GI:4501901
UniProt ID:Q03154
mRNA ID:NM_000666
Length:408
RefSeq Status:
Protein sequence is identical to GI:312032403 (mRNA isoform)
 
aminoacylase-1 isoform b
Refseq ID:NP_001185825
Protein GI:312032405
UniProt ID:Q03154
mRNA ID:NM_001198896
Length:336
RefSeq Status:
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFK
DSEGIANPTDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSNPHLKEGSVTSVNLTKLEGGVAYNVIPATMSAS
FDFRVAPDVDFKAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPALGFSPMNRTPVLL
HDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS
 
aminoacylase-1 isoform c
Refseq ID:NP_001185826
Protein GI:312032407
UniProt ID:Q03154
mRNA ID:NM_001198897
Length:343
RefSeq Status:
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFK
DSEGYIYARGAQDMKCVSIQYLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTS
TGRPGHASRFMEDTAAEKLAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPALGFSPM
NRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS
 
aminoacylase-1 isoform d
Refseq ID:NP_001185827
Protein GI:312032409
UniProt ID:Q03154
mRNA ID:NM_001198898
Length:373
RefSeq Status:
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDSEGYIYARGAQDMKCVSIQYLEAVRRLKVEGHRF
PRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQ
RLQSNPHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMN
LTLEPEIMPAATDNRYIRAVGVPALGFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS
 
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