ACY1 aminoacylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACY1provided by HGNC
Official Full Name: aminoacylase 1provided by HGNC
Primary source: HGNC:HGNC:177
See related: Ensembl:ENSG00000243989 MIM:104620; AllianceGenome:HGNC:177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACY-1; ACY1D; HEL-S-5
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]
Expression: Biased expression in kidney (RPKM 217.1), duodenum (RPKM 77.7) and 7 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p21.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (51983535..51989197)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52016455..52022117)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52017551..52023213)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
Title: LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma.
Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor beta (TGF-beta) Signaling Pathways.
Title: Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor β (TGF-β) Signaling Pathways.
with the elevated level in the disease progression of Chronic hepatitis B (CHB), ACY1 autoantibody may be a valuable serum biomarker for discriminating HBVrelated liver cirrhosis from CHB.
Title: Identification and clinical significance of an elevated level of serum aminoacylase-1 autoantibody in patients with hepatitis B virus-related liver cirrhosis.
Biochemical analysis showed absence of ACY1 enzyme activity in the patient's fibroblasts.
Title: Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
ACY1 acts as a tumor suppressor in hepatocellular carcinoma.
Title: Proteomics-based identification of the tumor suppressor role of aminoacylase 1 in hepatocellular carcinoma.
Report serum aminoacylase-1 as a novel biomarker with potential prognostic utility for long-term outcome in renal transplant recipients with delayed graft function.
Title: Serum aminoacylase-1 is a novel biomarker with potential prognostic utility for long-term outcome in patients with delayed graft function following renal transplantation.
We concluded that ACY1 expression in colorectal cancer varies with stage and appears to play a role in cell proliferation and apoptosis
Title: Overexpression of aminoacylase 1 is associated with colorectal cancer progression.
These data suggest that aminoacylase expression is dysregulated in neuroblastoma.
Title: Differential aminoacylase expression in neuroblastoma.
aminoacylase 1 proteins with the mutations p.Arg378Trp, p.Arg378Gln and p.Arg393His were also detected in Western blot analysis
Title: The molecular basis of aminoacylase 1 deficiency.
T347S variant of human Acy1 exhibited markedly increased catalytic efficiency against N-benzoylamino acids
Title: Probing the acyl-binding pocket of aminoacylase-1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aminoacylase 1 deficiency MedGen: C1835922 OMIM: 609924 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH11608 (e-PCR)
- UniSTS:72810

GDB:251741 (e-PCR)
- UniSTS:156315

D3S1660 (e-PCR)
- UniSTS:154301

RH135818 (e-PCR)
- UniSTS:209636

RH66446 (e-PCR)
- UniSTS:88310

Readthrough ABHD14A-ACY1

Readthrough gene: ABHD14A-ACY1, Included gene: ABHD14A

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminoacylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminoacylase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amino acid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: aminoacylase-1

Names: N-acyl-L-amino-acid amidohydrolase; acylase; epididymis secretory protein Li 5

NP_000657.1

EC 3.5.1.14

NP_001185824.1

EC 3.5.1.14

NP_001185825.1

EC 3.5.1.14

NP_001185826.1

EC 3.5.1.14

NP_001185827.1

EC 3.5.1.14

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012036.1 RefSeqGene

Range

4989..10651

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000666.3 → NP_000657.1 aminoacylase-1 isoform a

See identical proteins and their annotated locations for NP_000657.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.

Source sequence(s)

BE269642, L07548

Consensus CDS

CCDS2844.1

UniProtKB/Swiss-Prot

C9J6I6, C9J9D8, C9JWD4, Q03154

UniProtKB/TrEMBL

A0A1B0GU86, V9HWA0

Related

ENSP00000490149.1, ENST00000636358.2

Conserved Domains (1) summary

TIGR01880
Location:1 → 401

Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
NM_001198895.2 → NP_001185824.1 aminoacylase-1 isoform a

See identical proteins and their annotated locations for NP_001185824.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.

Source sequence(s)

BE269642, D16307, L07548

Consensus CDS

CCDS2844.1

UniProtKB/Swiss-Prot

C9J6I6, C9J9D8, C9JWD4, Q03154

UniProtKB/TrEMBL

A0A1B0GU86, V9HWA0

Related

ENSP00000384296.2, ENST00000404366.7

Conserved Domains (1) summary

TIGR01880
Location:1 → 401

Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase
NM_001198896.2 → NP_001185825.1 aminoacylase-1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

CD014023

Consensus CDS

CCDS56261.1

UniProtKB/TrEMBL

A0A1B0GU86

Related

ENSP00000417618.1, ENST00000494103.5

Conserved Domains (2) summary

TIGR01880
Location:1 → 329

Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase

cl14876
Location:9 → 327

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
NM_001198897.2 → NP_001185826.1 aminoacylase-1 isoform c

See identical proteins and their annotated locations for NP_001185826.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

CD014026

Consensus CDS

CCDS56262.1

UniProtKB/TrEMBL

A0A1B0GU86

Related

ENSP00000419262.1, ENST00000476854.5

Conserved Domains (1) summary

cl27543
Location:1 → 336

PRK13004; peptidase; Reviewed
NM_001198898.2 → NP_001185827.1 aminoacylase-1 isoform d

See identical proteins and their annotated locations for NP_001185827.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site, resulting in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

CD014027

Consensus CDS

CCDS56263.1

UniProtKB/TrEMBL

A0A1B0GU86

Related

ENSP00000417056.1, ENST00000476351.5

Conserved Domains (2) summary

cd05646
Location:9 → 364

M20_AcylaseI_like; M20 Aminoacylase-I like subfamily

TIGR01880
Location:1 → 366

Ac-peptdase-euk; N-acyl-L-amino-acid amidohydrolase