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Aliases for ACY1 Gene

Aliases for ACY1 Gene

  • Aminoacylase 1 2 3 5
  • N-Acyl-L-Amino-Acid Amidohydrolase 3 4
  • EC 3.5.1.14 4 63
  • ACY-1 3 4
  • Epididymis Secretory Protein Li 5 3
  • EC 3.5.1 63
  • HEL-S-5 3
  • Acylase 3
  • ACY1D 3

External Ids for ACY1 Gene

Previous GeneCards Identifiers for ACY1 Gene

  • GC03P051110
  • GC03P051270
  • GC03P051873
  • GC03P051976
  • GC03P051992
  • GC03P052009
  • GC03P052017

Summaries for ACY1 Gene

Entrez Gene Summary for ACY1 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 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]

GeneCards Summary for ACY1 Gene

ACY1 (Aminoacylase 1) is a Protein Coding gene. Diseases associated with ACY1 include Aminoacylase 1 Deficiency and Neurological Conditions Associated With Aminoacylase 1 Deficiency. Among its related pathways are Aflatoxin activation and detoxification and Phase II conjugation. GO annotations related to this gene include hydrolase activity and aminoacylase activity. An important paralog of this gene is ABHD14A-ACY1.

UniProtKB/Swiss-Prot for ACY1 Gene

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

Gene Wiki entry for ACY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACY1 Gene

Genomics for ACY1 Gene

Regulatory Elements for ACY1 Gene

Enhancers for ACY1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACY1 on UCSC Golden Path with GeneCards custom track

Promoters for ACY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACY1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACY1 Gene

Chromosome:
3
Start:
51,983,284 bp from pter
End:
51,989,202 bp from pter
Size:
5,919 bases
Orientation:
Plus strand

Genomic View for ACY1 Gene

Genes around ACY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACY1 Gene

Proteins for ACY1 Gene

  • Protein details for ACY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03154-ACY1_HUMAN
    Recommended name:
    Aminoacylase-1
    Protein Accession:
    Q03154
    Secondary Accessions:
    • C9J6I6
    • C9J9D8
    • C9JWD4

    Protein attributes for ACY1 Gene

    Size:
    408 amino acids
    Molecular mass:
    45885 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer. Interacts with SPHK1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ACY1 Gene

    Alternative splice isoforms for ACY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACY1 Gene

Proteomics data for ACY1 Gene at MOPED

Post-translational modifications for ACY1 Gene

  • Ubiquitination at Lys 332
  • Modification sites at PhosphoSitePlus

Domains & Families for ACY1 Gene

Protein Domains for ACY1 Gene

Suggested Antigen Peptide Sequences for ACY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03154

UniProtKB/Swiss-Prot:

ACY1_HUMAN :
  • Belongs to the peptidase M20A family.
Family:
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with ACY1: view

No data available for Gene Families for ACY1 Gene

Function for ACY1 Gene

Molecular function for ACY1 Gene

GENATLAS Biochemistry:
aminoacylase 1
UniProtKB/Swiss-Prot CatalyticActivity:
An N-acyl-aliphatic-L-amino acid + H(2)O = an aliphatic L-amino acid + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
An N-acetyl-L-cysteine-S-conjugate + H(2)O = an L-cysteine-S-conjugate + acetate.
UniProtKB/Swiss-Prot Function:
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).

Enzyme Numbers (IUBMB) for ACY1 Gene

Gene Ontology (GO) - Molecular Function for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity TAS --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACY1: view

Phenotypes for ACY1 Gene

genes like me logo Genes that share phenotypes with ACY1: view

Human Phenotype Ontology for ACY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACY1 Gene

Localization for ACY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACY1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACY1 Gene COMPARTMENTS Subcellular localization image for ACY1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ACY1: view

Pathways & Interactions for ACY1 Gene

genes like me logo Genes that share pathways with ACY1: view

Pathways by source for ACY1 Gene

Gene Ontology (GO) - Biological Process for ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACY1: view

No data available for SIGNOR curated interactions for ACY1 Gene

Drugs & Compounds for ACY1 Gene

(11) Drugs for ACY1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target NMDA agonist 0
Acetylcysteine Approved Pharma Target, ligand Antioxidant;mucolytic agent 299
acetic acid Approved Nutra Full agonist, Agonist 97
Ornithine Approved Nutra Full agonist, Agonist 67
MYRISTIC ACID Experimental Pharma 0

(14) Additional Compounds for ACY1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
n-acetylornithine
  • (2S)-2-acetamido-5-aminopentanoate
  • (2S)-2-acetamido-5-aminopentanoic acid
  • Acetyl-Ornithine
  • AOR
  • N(2)-Acetyl-L-ornithine
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
N-Acetylglutamine
  • Aceglutamid
  • Aceglutamide
  • Acetylglutamine
  • alpha-N-Acetyl-L-glutamine
  • L-2-Acetamidoglutaramic acid
2490-97-3
genes like me logo Genes that share compounds with ACY1: view

Transcripts for ACY1 Gene

Unigene Clusters for ACY1 Gene

Aminoacylase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACY1 Gene

No ASD Table

Relevant External Links for ACY1 Gene

GeneLoc Exon Structure for
ACY1
ECgene alternative splicing isoforms for
ACY1

Expression for ACY1 Gene

mRNA expression in normal human tissues for ACY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACY1 Gene

This gene is overexpressed in Kidney (21.9) and Liver, secretome (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACY1 Gene



SOURCE GeneReport for Unigene cluster for ACY1 Gene Hs.334707

mRNA Expression by UniProt/SwissProt for ACY1 Gene

Q03154-ACY1_HUMAN
Tissue specificity: Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
genes like me logo Genes that share expression patterns with ACY1: view

Protein tissue co-expression partners for ACY1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for ACY1 Gene

Orthologs for ACY1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACY1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACY1 35
  • 88.74 (n)
  • 88.2 (a)
ACY1 36
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ACY1 35
  • 87.96 (n)
  • 87.96 (a)
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Acy1 35
  • 86.19 (n)
  • 85.29 (a)
Acy1 16
Acy1 36
  • 85 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ACY1 35
  • 99.51 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Acy1 35
  • 86.19 (n)
  • 87.75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACY1 35
  • 72 (n)
  • 69.75 (a)
-- 36
  • 68 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia acy1.1 35
  • 61.5 (n)
  • 61.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68640 35
zebrafish
(Danio rerio)
Actinopterygii acy1 35
  • 64.16 (n)
  • 61.65 (a)
zgc55605 35
acy1 36
  • 59 (a)
ManyToMany
CU896698.1 36
  • 58 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17109 37
  • 44 (a)
CG17110 37
  • 44 (a)
CG6465 37
  • 49 (a)
CG6726 37
  • 46 (a)
CG6733 37
  • 44 (a)
CG6738 37
  • 44 (a)
CG6465 35
  • 55.87 (n)
  • 50.9 (a)
CG17109 36
  • 44 (a)
ManyToMany
CG17110 36
  • 46 (a)
ManyToMany
CG6465 36
  • 48 (a)
ManyToMany
CG6726 36
  • 47 (a)
ManyToMany
CG6733 36
  • 44 (a)
ManyToMany
CG6738 36
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000679 35
  • 56.15 (n)
  • 47.58 (a)
worm
(Caenorhabditis elegans)
Secernentea C06A6.4 37
  • 44 (a)
C10C5.3 37
  • 47 (a)
C10C5.4 37
  • 47 (a)
C10C5.5 37
  • 47 (a)
C06A6.4 35
  • 51.87 (n)
  • 48.47 (a)
C06A6.4 36
  • 46 (a)
ManyToMany
C10C5.3 36
  • 46 (a)
ManyToMany
C10C5.4 36
  • 47 (a)
ManyToMany
C10C5.5 36
  • 47 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G38220 35
  • 53.02 (n)
  • 46.11 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5352 35
wheat
(Triticum aestivum)
Liliopsida Ta.9380 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.566 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8209 36
  • 50 (a)
OneToMany
Species with no ortholog for ACY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACY1 Gene

ENSEMBL:
Gene Tree for ACY1 (if available)
TreeFam:
Gene Tree for ACY1 (if available)

Paralogs for ACY1 Gene

Paralogs for ACY1 Gene

(1) SIMAP similar genes for ACY1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ACY1 Gene

genes like me logo Genes that share paralogs with ACY1: view

Variants for ACY1 Gene

Sequence variations from dbSNP and Humsavar for ACY1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_020452 Aminoacylase-1 deficiency (ACY1D)
VAR_026104 Aminoacylase-1 deficiency (ACY1D)
VAR_026105 Aminoacylase-1 deficiency (ACY1D)
VAR_036076 A breast cancer sample
VAR_043113 Aminoacylase-1 deficiency (ACY1D)

Structural Variations from Database of Genomic Variants (DGV) for ACY1 Gene

Variant ID Type Subtype PubMed ID
nsv520211 CNV Gain 19592680
nsv508922 CNV Insertion 20534489
nsv876780 CNV Loss 21882294
dgv5135n71 CNV Loss 21882294
nsv519445 CNV Gain+Loss 19592680

Variation tolerance for ACY1 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACY1 Gene

Human Gene Mutation Database (HGMD)
ACY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACY1 Gene

Disorders for ACY1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACY1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aminoacylase 1 deficiency
  • aminoacylase-1
neurological conditions associated with aminoacylase 1 deficiency
  • aminoacylase 1 deficiency
syringomyelia
greig cephalopolysyndactyly syndrome
  • polysyndactyly with peculiars skull shape
- elite association - COSMIC cancer census association via MalaCards
Search ACY1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACY1_HUMAN
  • Aminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. {ECO:0000269 PubMed:16274666, ECO:0000269 PubMed:16465618, ECO:0000269 PubMed:17562838, ECO:0000269 PubMed:21414403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACY1
genes like me logo Genes that share disorders with ACY1: view

No data available for Genatlas for ACY1 Gene

Publications for ACY1 Gene

  1. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. (PMID: 16465618) Sass J.O. … Omran H. (Am. J. Hum. Genet. 2006) 3 4 23 67
  2. Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18. (PMID: 1707030) Miller Y.E. … Fisher J.H. (Genomics 1990) 2 3 23
  3. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. (PMID: 17516490) Engelke U.F. … Wevers R.A. (NMR Biomed 2008) 3 23
  4. Probing the acyl-binding pocket of aminoacylase-1. (PMID: 18341290) Lindner H.A. … Sulea T. (Biochemistry 2008) 3 23
  5. Neurological findings in aminoacylase 1 deficiency. (PMID: 17562838) Sass J.O. … Omran H. (Neurology 2007) 3 23

Products for ACY1 Gene

Sources for ACY1 Gene

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