ACY1 (aminoacylase 1)

2003-06-01  

Identity

HGNC
LOCATION
3p21.2
LOCUSID
ALIAS
ACY-1,ACY1D,HEL-S-5
FUSION GENES

Other Information

Locus ID:

NCBI: 95
MIM: 104620
HGNC: 177
Ensembl: ENSG00000243989

Variants:

dbSNP: 95
ClinVar: 95
TCGA: ENSG00000243989
COSMIC: ACY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000243989ENST00000404366Q03154
ENSG00000243989ENST00000404366V9HWA0
ENSG00000243989ENST00000469863C9JYZ0
ENSG00000243989ENST00000476351Q03154
ENSG00000243989ENST00000476854Q03154
ENSG00000243989ENST00000491318F8WC59
ENSG00000243989ENST00000494103Q03154
ENSG00000243989ENST00000635797A0A1B0GU86
ENSG00000243989ENST00000635941A0A1B0GUZ4
ENSG00000243989ENST00000636358Q03154
ENSG00000243989ENST00000636358V9HWA0
ENSG00000243989ENST00000636556A0A1B0GVG0
ENSG00000243989ENST00000636880A0A1B0GU36
ENSG00000243989ENST00000637149A0A1B0GVF7
ENSG00000243989ENST00000637209A0A1B0GVZ3
ENSG00000243989ENST00000637349A0A1B0GTG3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Metabolic pathwaysKEGGhsa01100
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Aflatoxin activation and detoxificationREACTOMER-HSA-5423646

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
129338102003Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family.19
164656182006Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.15
237392322013Serum aminoacylase-1 is a novel biomarker with potential prognostic utility for long-term outcome in patients with delayed graft function following renal transplantation.11
162746662005Aminoacylase I deficiency: a novel inborn error of metabolism.8
211282442011Differential aminoacylase expression in neuroblastoma.6
214144032011The molecular basis of aminoacylase 1 deficiency.6
241170092014Aminoacylase I deficiency due to ACY1 mRNA exon skipping.4
170451862006The amidase activity of human tissue kallikrein is significantly lower in the urine of patients with systolic heart failure.2
183412902008Probing the acyl-binding pocket of aminoacylase-1.2
204803962010Aminoacylase 1 deficiency associated with autistic behavior.2

Citation

Dessen P

ACY1 (aminoacylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/570/acy1