Aliases for ACY3 Gene

Aliases for ACY3 Gene

  • Aminoacylase 3 2 3 5
  • N-Acyl-Aromatic-L-Amino Acid Amidohydrolase (Carboxylate-Forming) 3 4
  • Hepatitis C Virus Core-Binding Protein 1 3 4
  • Aspartoacylase (Aminoacylase) 3 2 3
  • HCV Core-Binding Protein 1 3 4
  • Aspartoacylase-2 3 4
  • Acylase III 3 4
  • ACY-3 3 4
  • HCBP1 3 4
  • N-Acyl-Aromatic-L-Amino Acid Amidohydrolase 2
  • Aspartoacylase (Aminocyclase) 3 3
  • Aminoacylase-3 4
  • EC 3.5.1.114 4
  • EC 3.5.1.15 52
  • ASPA2 4

External Ids for ACY3 Gene

Previous GeneCards Identifiers for ACY3 Gene

  • GC11M067166
  • GC11M067411
  • GC11M063739

Summaries for ACY3 Gene

GeneCards Summary for ACY3 Gene

ACY3 (Aminoacylase 3) is a Protein Coding gene. Diseases associated with ACY3 include Hepatitis C Virus and Canavan Disease. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. An important paralog of this gene is ASPA.

UniProtKB/Swiss-Prot Summary for ACY3 Gene

  • Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity).

Additional gene information for ACY3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACY3 Gene

Genomics for ACY3 Gene

GeneHancer (GH) Regulatory Elements for ACY3 Gene

Promoters and enhancers for ACY3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J067646 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 507.5 +2.0 2040 5.3 CTCF POLR2G SP1 NCOR1 ZIC2 REST MEF2C SKI MYC ATF2 ACY3 ALDH3B2 UNC93B1 RPL37P2 NUDT8 piR-57461-033 TBX10
GH11J067652 Enhancer 0.6 ENCODE 509.9 -1.9 -1905 0.8 ZNF623 CREB1 BCOR GATA3 ZFP64 ZNF34 ZC3H11A ZNF781 ZNF518A ZNF555 ACY3 ENSG00000227834 piR-50437-083 piR-57461-033 NUDT8
GH11J067673 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 10.4 -23.8 -23820 2.8 ZNF217 RFX1 CUX1 GATAD2B CTBP1 RBM25 SIN3A ESRRA MYC ZNF592 ALDH3B2 HSALNG0085182 ACY3 RAD9A NUDT8
GH11J067560 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 +87.8 87845 4.1 TCF12 FOS EP300 REST RFX1 RELA TOE1 RCOR1 CTBP1 SKI lnc-CABP2-1 PTPRCAP AIP NDUFV1 CLCF1 CABP2 C11orf72 ENSG00000255119 DOC2GP NUDT8
GH11J067572 Enhancer 1.1 ENCODE dbSUPER 11.1 +77.8 77797 1.4 ZNF217 CTCF TEAD4 TCF7 AFF1 TARDBP REST HES1 TOE1 RAD21 NDUFV1 ENSG00000255119 C11orf72 DOC2GP NUDT8 TBX10 AIP ACY3 ENSG00000227834 ALDH3B2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACY3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACY3

Top Transcription factor binding sites by QIAGEN in the ACY3 gene promoter:
  • ATF
  • E47
  • Hand1
  • Lmo2
  • MyoD
  • NF-kappaB1
  • Pax-5
  • PPAR-alpha
  • Roaz

Genomic Locations for ACY3 Gene

Genomic Locations for ACY3 Gene
chr11:67,642,555-67,650,807
(GRCh38/hg38)
Size:
8,253 bases
Orientation:
Minus strand
chr11:67,410,026-67,418,130
(GRCh37/hg19)
Size:
8,105 bases
Orientation:
Minus strand

Genomic View for ACY3 Gene

Genes around ACY3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACY3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACY3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACY3 Gene

Proteins for ACY3 Gene

  • Protein details for ACY3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HD9-ACY3_HUMAN
    Recommended name:
    N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)
    Protein Accession:
    Q96HD9

    Protein attributes for ACY3 Gene

    Size:
    319 amino acids
    Molecular mass:
    35241 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Exists as a mixture of homodimers and homotetramer, both catalytically active.
    • (Microbial infection) Interacts with hepatitis C virus/HCV core protein.

neXtProt entry for ACY3 Gene

Selected DME Specific Peptides for ACY3 Gene

Q96HD9:
  • FINEAAY
  • LDFIELFN
  • GGTHGNE
  • GPQPQGV
  • NEAAYYEK

Post-translational modifications for ACY3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACY3 Gene

Domains & Families for ACY3 Gene

Gene Families for ACY3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ACY3 Gene

Blocks:
  • Succinylglutamate desuccinylase/aspartoacylase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACY3 Gene

GenScript: Design optimal peptide antigens:
  • Hepatitis C virus core-binding protein 1 (ACY3_HUMAN)
  • Hepatitis C virus core-binding protein 1 (Q8TDM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HD9

UniProtKB/Swiss-Prot:

ACY3_HUMAN :
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
Family:
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
genes like me logo Genes that share domains with ACY3: view

Function for ACY3 Gene

Molecular function for ACY3 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-aromatic L-alpha-amino acid + H2O = a carboxylate + an aromatic L-alpha-amino acid; Xref=Rhea:RHEA:54184, ChEBI:CHEBI:15377, ChEBI:CHEBI:29067, ChEBI:CHEBI:84824, ChEBI:CHEBI:138093; EC=3.5.1.114;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S-substituted L-cysteine; Xref=Rhea:RHEA:36855, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:58717, ChEBI:CHEBI:58718; EC=3.5.1.114;.

Enzyme Numbers (IUBMB) for ACY3 Gene

Phenotypes From GWAS Catalog for ACY3 Gene

Gene Ontology (GO) - Molecular Function for ACY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004046 aminoacylase activity ISS --
GO:0005515 protein binding IPI 21516116
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
genes like me logo Genes that share ontologies with ACY3: view
genes like me logo Genes that share phenotypes with ACY3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACY3

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACY3 Gene

Localization for ACY3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACY3 Gene

Apical cell membrane; Peripheral membrane protein. Cytoplasm. Note=Predominantly localized in the apical membrane of cells in the S1 segment. In the proximal straight tubules (S2 and S3 segments) is expressed diffusely throughout the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACY3 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with ACY3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACY3 Gene

Pathways & Interactions for ACY3 Gene

genes like me logo Genes that share pathways with ACY3: view

Pathways by source for ACY3 Gene

Gene Ontology (GO) - Biological Process for ACY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0008150 biological_process ND --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with ACY3: view

No data available for SIGNOR curated interactions for ACY3 Gene

Drugs & Compounds for ACY3 Gene

(10) Drugs for ACY3 Gene - From: DrugBank, PharmGKB, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 175
Bisoprolol Approved Pharma 80
acetic acid Approved Pharma Full agonist, Agonist 141
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Stearic acid Approved, Experimental Pharma 0

(6) Additional Compounds for ACY3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
N-Acetyl-L-aspartic acid
  • (S)-2-(acetylamino)Butanedioic acid
  • (S)-2-(acetylamino)Succinic acid
  • Acetyl-L-aspartic acid
  • Acetylaspartic acid
  • L-N-Acetylaspartic acid
997-55-7
N-Formyl-L-aspartate
genes like me logo Genes that share compounds with ACY3: view

Transcripts for ACY3 Gene

mRNA/cDNA for ACY3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACY3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACY3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -
SP3:

Relevant External Links for ACY3 Gene

GeneLoc Exon Structure for
ACY3

Expression for ACY3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACY3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACY3 Gene

This gene is overexpressed in Kidney - Cortex (x17.0), Liver (x6.8), Small Intestine - Terminal Ileum (x6.3), and Pancreas (x4.6).

Protein differential expression in normal tissues from HIPED for ACY3 Gene

This gene is overexpressed in Kidney (40.4), Pancreatic juice (10.1), and Fetal gut (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACY3 Gene



Protein tissue co-expression partners for ACY3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACY3

SOURCE GeneReport for Unigene cluster for ACY3 Gene:

Hs.126265

Evidence on tissue expression from TISSUES for ACY3 Gene

  • Liver(4.3)
  • Intestine(4.1)
  • Kidney(2.8)
genes like me logo Genes that share expression patterns with ACY3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACY3 Gene

Orthologs for ACY3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACY3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACY3 31 30
  • 99.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acy3 17 31 30
  • 77.14 (n)
rat
(Rattus norvegicus)
Mammalia Acy3 30
  • 76.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACY3 31
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACY3 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acy3 30
  • 56.72 (n)
zebrafish
(Danio rerio)
Actinopterygii acy3.1 31 30
  • 52.73 (n)
OneToMany
acy3.2 31
  • 22 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7431 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for ACY3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACY3 Gene

ENSEMBL:
Gene Tree for ACY3 (if available)
TreeFam:
Gene Tree for ACY3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACY3: view image

Paralogs for ACY3 Gene

Paralogs for ACY3 Gene

(2) SIMAP similar genes for ACY3 Gene using alignment to 2 proteins:

  • ACY3_HUMAN
  • E9PRA7_HUMAN
genes like me logo Genes that share paralogs with ACY3: view

Variants for ACY3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACY3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2290959 - p.Val281Met
rs948445 - p.Arg8Gln

Additional dbSNP identifiers (rs#s) for ACY3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACY3 Gene

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv154n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1982n54 CNV loss 21841781
esv2422195 CNV duplication 17116639
esv3334811 CNV duplication 20981092
nsv468606 CNV gain 19166990
nsv468609 CNV loss 19166990
nsv469963 CNV loss 18288195
nsv555273 CNV loss 21841781
nsv951023 CNV deletion 24416366

Variation tolerance for ACY3 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACY3 Gene

Human Gene Mutation Database (HGMD)
ACY3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACY3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACY3 Gene

Disorders for ACY3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACY3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitis c virus, susceptibility to
canavan disease
  • canavan-van bogaert-bertrand disease
leukodystrophy, hypomyelinating, 2
  • hld2
- elite association - COSMIC cancer census association via MalaCards
Search ACY3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACY3

genes like me logo Genes that share disorders with ACY3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACY3 Gene

Publications for ACY3 Gene

  1. Identification of a novel protein binding to hepatitis C virus core protein. (PMID: 19486448) Chen YR … Liu M (Journal of gastroenterology and hepatology 2009) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Structural characterization, tissue distribution, and functional expression of murine aminoacylase III. (PMID: 14656720) Pushkin A … Kurtz I (American journal of physiology. Cell physiology 2004) 2 3 54
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 54
  5. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 54

Products for ACY3 Gene

Sources for ACY3 Gene