ACY1 (aminoacylase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways 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.
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Gene miRNA Gene ontology Other IDs Protein Pathways 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.
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Gene miRNA Gene ontology Other IDs Protein Pathways 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 miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104620 177 ENSG00000243989
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arginine biosynthesis
Metabolic pathways
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids 		  Aflatoxin activation and detoxification
Defective ACY1 causes encephalopathy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACY1-related disorder Likely pathogenic rs773182634 RCV003894636
Aminoacylase 1 deficiency Likely pathogenic; Pathogenic rs1701105628, rs672601350, rs1368307429, rs387906579, rs121912699, rs672601330, rs121912700 RCV002266825
RCV000149440
RCV003479624
RCV000019737
RCV000019739
RCV000019740
RCV000019741
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inborn aminoacylase deficiency Conflicting classifications of pathogenicity rs121912698 RCV004017259
Intellectual disability Likely benign rs202206383, rs1385904500 RCV001251868
RCV001251869
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 39596356
Aminoacylase 1 deficiency Inhibit 21414403
Aminoacylase 1 deficiency Associate 21414403
Carcinogenesis Associate 33619241
Cholangiocarcinoma Associate 34320944
Developmental Disabilities Associate 21414403
Diabetes Mellitus Type 2 Associate 32928870
Focal cortical dysplasia of Taylor Associate 40282380
Intellectual Disability Associate 21414403, 40282380
Leukemia Lymphocytic Chronic B Cell Associate 23537217