ABHD14A-ACY1

GENE INFORMATION

? »

Gene name

ABHD14A-ACY1

Synonyms

Description

ABHD14A-ACY1 readthrough (NMD candidate) (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

Cytoband

p21.2

Chromosome location (bp)

52009066 - 52023199

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114786 (version 75.37)

Entrez gene

95

UniProt

neXtProt

Antibodypedia

ABHD14A-ACY1 antibodies
 

PROTEIN VIEW

? »
 
 
 
ABHD14A-ACY1-001
 
ABHD14A-ACY1-003
 
ABHD14A-ACY1-004
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABHD14A-ACY1-001 ENSP00000420487
ENST00000463937
C9JMV9
Show all »
Show » Show » 509 56.4 No 0
ABHD14A-ACY1-003 ENSP00000420395
ENST00000486081
F2Z3Q0
Show all »
Show » 167 17.8 No 0
ABHD14A-ACY1-004 ENSP00000417688
ENST00000463721
F2Z3Q0
Show all »
Show » 167 17.8 No 0