ACY1

GENERAL INFORMATION

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Gene name

ACY1

Gene description

Aminoacylase 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (duodenum, kidney, liver, small intestine)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Mainly cytoplasmic expression in hepatocytes and renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Supportive based on 3 antibodies.
HPA036174 , HPA036175 , CAB003695
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (duodenum, kidney, liver, small intestine)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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

Cytoband

p21.2

Chromosome location (bp)

51983340 - 51989197

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000243989 (version 78.38)

Entrez gene

95

UniProt

Q03154 (UniProt - Evidence at protein level)

neXtProt

NX_Q03154

Antibodypedia

ACY1 antibodies


PROTEIN BROWSER

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ENST00000404366
 
ENST00000469863
 
ENST00000476351
 
ENST00000476854
 
ENST00000494103
 
 
 
 


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
ACY1-006 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 » Show » 228 25.8 No 0