ACY1 (aminoacylase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 95
Gene name Aminoacylase 1
Gene symbol ACY1
Synonyms (NCBI Gene)
ACY-1ACY1DHEL-S-5
Chromosome 3
Chromosome location 3p21.2
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 gen
miRNA miRNA information provided by mirtarbase database.
44
Gene SNPs Other IDs Associated diseases
Show/Hide all (44)
miRTarBase ID miRNA Experiments Reference
MIRT705960 hsa-miR-183-5p HITS-CLIP 23313552
MIRT705959 hsa-miR-212-5p HITS-CLIP 23313552
MIRT705958 hsa-miR-4323 HITS-CLIP 23313552
MIRT705957 hsa-miR-4688 HITS-CLIP 23313552
MIRT705956 hsa-miR-6743-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs Other IDs Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0004046 Function Aminoacylase activity IBA
GO:0004046 Function Aminoacylase activity IDA 12933810
GO:0004046 Function Aminoacylase activity IEA
GO:0004046 Function Aminoacylase activity TAS 1707030
GO:0005515 Function Protein binding IPI 21044950, 28514442, 31515488, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
104620 177 ENSG00000243989
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03154
Protein name Aminoacylase-1 (ACY-1) (EC 3.5.1.14) (N-acyl-L-amino-acid amidohydrolase)
Protein function Catalyzes the hydrolysis of N-acetylated amino acids to acetate and free amino acids.
PDB 1Q7L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01546 Peptidase_M20 76 → 397 Peptidase family M20/M25/M40 Family
PF07687 M20_dimer 188 → 302 Peptidase dimerisation domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression is highest in kidney, strong in brain and weaker in placenta and spleen. {ECO:0000269|PubMed:16465618}.
Sequence 
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVV
TVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDSEGYIYARGAQDMKCVSIQ
YLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANP
TDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSN
PHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEG
VTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPAL
GFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS
Sequence length 408
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACY1-related disorder Likely pathogenic rs773182634 RCV003894636
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aminoacylase 1 deficiency Likely pathogenic; Pathogenic rs1701105628, rs672601350, rs1368307429, rs387906579, rs121912699, rs672601330, rs121912700 RCV002266825
RCV000149440
RCV003479624
RCV000019737
RCV000019739
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMINOACYLASE DEFICIENCY — Disgenet
★★★★★
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Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL — CTD
★★★★★
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Found in Text Mining + Unknown/Other Associations
Inborn aminoacylase deficiency Conflicting classifications of pathogenicity ClinVar
★★★★★
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Found in Text Mining + Unknown/Other Associations
Intellectual disability Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute encephalopathy Encephalopathy HPO_DG
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★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 8634149
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★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 39596356 Associate
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★☆☆☆☆
Found in Text Mining only
Aminoacylase 1 deficiency Aminoacylase Deficiency UNIPROT_DG 16274666, 16465618, 17562838, 21414403
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase Deficiency ORPHANET_DG 16465618
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase Deficiency GENOMICS_ENGLAND_DG 16465618
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★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase deficiency Pubtator 21414403 Inhibit
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase deficiency Pubtator 21414403 Associate
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase Deficiency CLINVAR_DG
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★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoacylase 1 deficiency Aminoacylase Deficiency CTD_human_DG
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★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)