Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
95
Gene name Gene Name - the full gene name approved by the HGNC.
Aminoacylase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACY1
Synonyms (NCBI Gene) Gene synonyms aliases
ACY-1, ACY1D, HEL-S-5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACY1D
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004046 Function Aminoacylase activity IBA 21873635
GO:0005515 Function Protein binding IPI 21044950, 28514442, 32296183
GO:0005829 Component Cytosol TAS
GO:0006520 Process Cellular amino acid metabolic process IEA
GO:0006805 Process Xenobiotic metabolic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
104620 177 ENSG00000243989
Protein
UniProt ID 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
TDAFTVF
YSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSN
PHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEG
VT
LEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPAL
GFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPA
LASVPALPSDS
Sequence length 408
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aminoacylase deficiency Aminoacylase 1 deficiency rs387906579, rs121912699, rs672601330, rs121912700, rs672601350, rs770702363 16465618, 16274666, 17562838, 21414403
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Encephalopathy Acute encephalopathy rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740
View all (107 more)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 15108329 ClinVar
Associations from Text Mining
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