Tbio ACY1 Aminoacylase-1

Protein Summary

Description

Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). 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]

Uniprot Accession IDs

• Q03154
• C9J6I6
• C9J9D8
• C9JWD4
• ACY-1

Gene Name

• ACY1

Ensembl ID

• ENST00000404366
• ENSP00000384296
• ENSG00000243989
• ENST00000476351
• ENSP00000417056
• ENST00000476854
• ENSP00000419262
• ENST00000494103
• ENSP00000417618
• ENST00000636358
• ENSP00000490149

Symbol

• ACY-1
• ACY1D
• HEL-S-5

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.79
histone modification site profile	0.79
transcription factor binding site profile	0.67
disease	0.64
PubMedID	0.64

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 114.32   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 436   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 114.32   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 436   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (55)

Explore Interacting Targets

1 – 10 of 55

• See Interactions on String-DB

TRIM33

Tchem

Family:  Epigenetic

Novelty:  0.00415877

p_int:  0.999298204

p_ni:  0.000701796

Score:  0.206

Data Source:  BioPlex,STRINGDB

PPME1

Tchem

Family:  Enzyme

Novelty:  0.01559862

p_int:  0.990841389

p_ni:  0.009158611

Score:  0.217

Data Source:  BioPlex,STRINGDB

NUDT1

Tchem

Family:  Enzyme

Novelty:  0.00383386

p_int:  0.985750564

p_ni:  0.013997734

p_wrong:  0.000251703

Score:  0.799

Data Source:  BioPlex,STRINGDB

SEC13

Tbio

Novelty:  0.00709413

p_int:  0.958018439

p_ni:  0.041981561

Score:  0.179

Data Source:  BioPlex,STRINGDB

PECR

Tbio

Family:  Enzyme

Novelty:  0.01550165

p_int:  0.928388137

p_ni:  0.071611863

Score:  0.313

Data Source:  BioPlex,STRINGDB

PHOSPHO1

Tchem

Family:  Enzyme

Novelty:  0.05458897

p_int:  0.907177698

p_ni:  0.092822302

Score:  0.418

Data Source:  BioPlex,STRINGDB

BOLL

Tbio

Novelty:  0.02333312

p_int:  0.902165021

p_ni:  0.097834979

Score:  0.29

Data Source:  BioPlex,STRINGDB

OTC

Tchem

Family:  Enzyme

Novelty:  0.00544004

Score:  0.947

Data Source:  STRINGDB

ARG2

Tchem

Family:  Enzyme

Novelty:  0.0006655

Score:  0.935

Data Source:  STRINGDB

ARG1

Tchem

Family:  Enzyme

Novelty:  0.00063728

Score:  0.933

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (12)

Reactome (7)

KEGG (4)

WikiPathways (1)

Aflatoxin activation and detoxification (R-HSA-5423646)

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5

1 – 5 of 7

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Aflatoxin activation and detoxification	20 targets	R-HSA-5423646
Reactome	Biological oxidations	221 targets	R-HSA-211859
Reactome	Defective ACY1 causes encephalopathy	1 targets	R-HSA-5579007
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases of metabolism	103 targets	R-HSA-5668914

Name	Explore in Pharos	Explore in Source
Aflatoxin activation and detoxification	20 targets	R-HSA-5423646
Biological oxidations	221 targets	R-HSA-211859
Defective ACY1 causes encephalopathy	1 targets	R-HSA-5579007
Disease	1105 targets	R-HSA-1643685
Diseases of metabolism	103 targets	R-HSA-5668914

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (8)

Functions (4)

Components (2)

Processes (2)

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Items per page:

10

1 – 4 of 4

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
aminoacylase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
metallopeptidase activity	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations (null)

No disease associations found

GWAS Traits (7)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 7

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
IGF-1 measurement	EFO_0004627	1	1	1		69.4
macrophage inflammatory protein 1b measurement	EFO_0008219	1	2	2		47.5
urate measurement	EFO_0004531	1	1	1		12.2
high density lipoprotein cholesterol measurement	EFO_0004612	1	1	1		10.6
apolipoprotein A 1 measurement	EFO_0004614	1	1	1		8.2

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 7

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
IGF-1 measurement	EFO_0004627	1		69.4
macrophage inflammatory protein 1b measurement	EFO_0008219	2		47.5
urate measurement	EFO_0004531	1		12.2
high density lipoprotein cholesterol measurement	EFO_0004612	1		10.6
apolipoprotein A 1 measurement	EFO_0004614	1		8.2

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Disease mutation
Hydrolase
Metal-binding
Polymorphism
Reference proteome
Zinc

GWAS Trait Find Similar Targets

No Header	No Header
apolipoprotein A 1 measurement
high density lipoprotein cholesterol measurement
IGF-1 measurement
low density lipoprotein cholesterol measurement
macrophage inflammatory protein 1b measurement
self reported educational attainment
urate measurement

IDG Resources

No IDG generated resources found

Orthologs

No orthologs found

Publication Statistics

PubMed Score 114.32

PubMed score by year

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PubTator Score 123.81

PubTator score by year

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Related Publications

Text Mined References (45)

GeneRif Annotations (13)

Items per page:

10

0 of 0

PMID	Year	Title