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ACY1 Gene

protein-coding   GIFtS: 63
GCID: GC03P052017

Aminoacylase 1

  See ACY1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aminoacylase 11 2     HEL-S-52
ACY-12 3     acylase2
N-Acyl-L-Amino-Acid Amidohydrolase2 3     aminoacylase-12
EC 3.5.1.143 8     Epididymis Secretory Protein Li 52
ACY1D2 5     EC 3.5.18

External Ids:    HGNC: 1771   Entrez Gene: 952   Ensembl: ENSG000002439897   OMIM: 1046205   UniProtKB: Q031543   

Export aliases for ACY1 gene to outside databases

Previous GC identifers: GC03P051110 GC03P051270 GC03P051873 GC03P051976 GC03P051992 GC03P052009


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 systolic heart failure. GO annotations related to this gene include metallopeptidase activity and aminoacylase activity. An important paralog of this gene is ABHD14A-ACY1.

UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154
Function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate)

Gene Wiki entry for ACY1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACY1 gene promoter:
         PPAR-alpha   MZF-1   MIF-1   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACY1 promoter sequence
   Search Chromatin IP Primers for ACY1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21.2

ACY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACY1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052017:  view genomic region     (about GC identifiers)

Start:
52,009,066 bp from pter      End:
52,023,218 bp from pter
Size:
14,153 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154 (See protein sequence)
Recommended Name: Aminoacylase-1  
Size: 408 amino acids; 45885 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Homodimer. Interacts with SPHK1 (By similarity)
1 PDB 3D structure from and Proteopedia for ACY1:
1Q7L (3D)    
Secondary accessions: C9J6I6 C9J9D8 C9JWD4
Alternative splicing: 4 isoforms:  Q03154-1   Q03154-2   Q03154-3   Q03154-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ACY1: NX_Q03154

Explore proteomics data for ACY1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys332
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACY1 (Q03154) (see all 12)
     PGHASRF  RYIRAVG  PWWAAFS  RGAQDMK 


    See ACY1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000657.1  NP_001185824.1  NP_001185825.1  NP_001185826.1  NP_001185827.1  

    ENSEMBL proteins: 
     ENSP00000418683   ENSP00000419262   ENSP00000417056   ENSP00000417618   ENSP00000384296  
     ENSP00000419830   ENSP00000390557  

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    Search eBioscience for ELISAs for ACY1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR010159 N-acyl_aa_amidohydrolase
     IPR011650 Peptidase_M20_dimer
     IPR001261 ArgE/DapE_CS
     IPR002933 Peptidase_M20

    Graphical View of Domain Structure for InterPro Entry Q03154

    ProtoNet protein and cluster: Q03154

    1 Blocks protein domain: IPB011650 Peptidase dimerisation

    UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154
    Similarity: Belongs to the peptidase M20A family


    Find genes that share domains with ACY1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACY1_HUMAN, Q03154
    Function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate)
    Catalytic activity: An N-acyl-aliphatic-L-amino acid + H(2)O = an aliphatic L-amino acid + a carboxylate
    Catalytic activity: An N-acetyl-L-cysteine-S-conjugate + H(2)O = an L-cysteine-S-conjugate + acetate

         Genatlas biochemistry entry for ACY1:
    aminoacylase 1

         Enzyme Numbers (IUBMB): EC 3.5.1.141 2 EC 3.5.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004046aminoacylase activity IEA--
    GO:0008237metallopeptidase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ACY1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACY1:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACY1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACY1_HUMAN, Q03154: Cytoplasm

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS8394326
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ACY1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACY1 About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    2Carbon metabolism
    Biosynthesis of amino acids0.38
    2-Oxocarboxylic acid metabolism0.00
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ACY1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACY1
        Urea cycle and metabolism of amino groups



    4 Kegg Pathways  (Kegg details for ACY1):
        Arginine and proline metabolism
    Metabolic pathways
    2-Oxocarboxylic acid metabolism
    Biosynthesis of amino acids

        Pathway & Disease-focused RT2 Profiler PCR Array including ACY1: 
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACY1

    Selected Interacting proteins for ACY1 (Q031542, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTC1Q996142, 3MINT-66237 I2D: score=5 
    BBS2Q9BXC93I2D: score=1 
    BBS4Q96RK43I2D: score=1 
    BBS7Q8IWZ63I2D: score=1 
    NIF3L1Q9GZT83I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006520cellular amino acid metabolic process IEA--
    GO:0008152metabolic process ----

    Find genes that share ontologies with ACY1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACY1

    Selected HMDB Compounds for ACY1 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    N-AcetylglutamineN2-Acetyl-L-glutamine (see all 9)2490-97-3--
    N-Acetylornithine(2S)-2-acetamido-5-aminopentanoic acid (see all 5)----
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--

    1 DrugBank Compound for ACY1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17139284 17016423 1284246

    10 Novoseek inferred chemical compound relationships for ACY1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutaryl-7-aminocephalosporanic acid 93.9 17 15221226 (2), 8031081 (1), 11910763 (1), 9721298 (1) (see all 6)
    7-aminocephalosporanic acid 88.9 7 11910763 (1), 10991936 (1), 12665670 (1)
    cephalosporin c 86.7 5 1776668 (1), 15358003 (1)
    n-acetylornithine 78.8 1 10965943 (1)
    cephalosporin 51 1 16276875 (1)
    beta-lactam 41.9 3 16495538 (1), 15358003 (1)
    penicillin 37.4 3 12827318 (1), 15358003 (1), 16276875 (1)
    n acetylcysteine 36.1 8 10820133 (2), 16950796 (1), 11848284 (1)
    polyacrylamide 18.1 1 9688818 (1)
    fatty acid 0 1 16495538 (1)



    Find genes that share compounds with ACY1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACY1 gene (5 alternative transcripts): 
    NM_000666.2  NM_001198895.1  NM_001198896.1  NM_001198897.1  NM_001198898.1  

    Unigene Cluster for ACY1:

    Aminoacylase 1
    Hs.334707  [show with all ESTs]
    Unigene Representative Sequence: NR_037192
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496679 ENST00000491318 ENST00000476854(uc021wzd.1) ENST00000476351(uc021wzb.1)
    ENST00000494103(uc021wzc.1) ENST00000404366(uc003dcp.3 uc003dcq.3)
    ENST00000465121(uc011beb.2) ENST00000469863 ENST00000468068 ENST00000464587
    ENST00000490244 ENST00000458031
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    Additional mRNA sequence: 

    AK298274.1 BC000545.2 BC003023.1 BC014112.2 D14524.1 D16307.1 L07548.1 NR_037192.1 

    Selected DOTS entries (see all 26):

    DT.100661294  DT.97862503  DT.450006  DT.100031645  DT.91756768  DT.120854083  DT.95204252  DT.101984978 
    DT.100885776  DT.86846444  DT.95204319  DT.91941554  DT.95204270  DT.100885779  DT.100707975  DT.100885796 
    DT.100885797  DT.120854139  DT.120854266  DT.91915382  DT.100685918  DT.120854112  DT.120854150  DT.216645 

    Selected AceView cDNA sequences (see all 446):

    CN480840 CD014023 BU501085 BE795159 CN483835 AI521916 CD014025 BP432045 
    BU540463 L07548 T28521 CA308876 BX101201 D14524 CB126427 BC002571 
    CR615795 CD014024 BE781354 CR604769 BM673744 BU509544 CA446152 NM_000666 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACY1 Expression
    About this image


    ACY1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    ACY1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACY1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334707

    UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154
    Tissue specificity: Expression is highest in kidney, strong in brain and weaker in placenta and spleen

        Pathway & Disease-focused RT2 Profiler PCR Array including ACY1: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACY1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACY1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acy11 , 5 aminoacylase 11, 5 86.19(n)1
    85.29(a)1
      9 (57.49 cM)5
    1096521  NM_025371.31  NP_079647.11 
     1064329965 
    chicken
    (Gallus gallus)
    Aves ACY11 aminoacylase 1 72(n)
    69.75(a)
      100858836  XM_004944474.1  XP_004944531.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    1 → many
    2(153097000-153119597)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686402 hypothetical protein MGC68640 76.33(n)    BC061653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc556052 similar to aminoacylase 1 75.15(n)   393970  BC045399.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64651 , 3 aminoacylase3
    CG64651
    49(a)
    (best of 6)3
    55.87(n)1
    50.9(a)1
      86C43
    412741  NM_141747.31  NP_650004.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C10C5.33
    C06A6.41
    aminoacylase-13
    C06A6.41
    47(a)
    (best of 4)3
    51.87(n)1
    48.47(a)1
      IV(9375035-9376602)3
    1775711  NM_001026130.51  NP_001021301.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G382201 AT4G38220 53.02(n)
    46.11(a)
      829978  NM_179185.1  NP_849516.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.53522 Transcribed sequence with weak similarity to protein more 74.47(n)    BF630514.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACY1 gene
    ABHD14A-ACY12  
    1 SIMAP similar gene for ACY1 using alignment to 4 protein entries:     ACY1_HUMAN (see all proteins):
    ABHD14A-ACY1

    Find genes that share paralogs with ACY1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACY1
    PGOHUM00000234959


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACY1 (see all 235)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219126981,2,,4
    C,FAminoacylase-1 deficiency (ACY1D)4 pathogenic151955334(+) ATATCC/TGCGCG 10 R C mis12Minor allele frequency- T:0.00NA EU 5543
    rs22291521,2,,4
    C,F,HAminoacylase-1 deficiency (ACY1D)4 --51955517(+) TCCTCC/TGTGGG 10 R C mis114Minor allele frequency- T:0.01MN NA EA NS WA EU 7116
    rs1219127011,2,,4
    C,FAminoacylase-1 deficiency (ACY1D)4 pathogenic151955539(+) TACACG/ACCTGC 10 /H /R mis12Minor allele frequency- A:0.01NA EU 5875
    VAR_0655624
    Aminoacylase-1 deficiency (ACY1D)4--see VAR_0655622 R Q mis40--------
    VAR_0431134
    Aminoacylase-1 deficiency (ACY1D)4--see VAR_0431132 R W mis40--------
    VAR_0655634
    Aminoacylase-1 deficiency (ACY1D)4--see VAR_0655632 R W mis40--------
    VAR_0261044
    Aminoacylase-1 deficiency (ACY1D)4--see VAR_0261042 E D mis40--------
    VAR_0360764
    A breast cancer sample4--see VAR_0360762 E D mis40--------
    rs1219127001,2
    C,Fpathogenic151953506(+) GGGTGC/TGGGTT 10 R W mis12Minor allele frequency- T:0.00NA EU 5241
    rs1449506181,2
    C--51947829(+) GAATGC/GGCCAC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACY1 (52009066 - 52023218 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACY1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508922CNV Insertion20534489
    nsv876780CNV Loss21882294
    dgv5135n71CNV Loss21882294
    nsv520211CNV Gain19592680
    nsv519445CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): ACY1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACY1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACY1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104620   
    OMIM disorders: 609924  
    UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for ACY1:    
    About MalaCards
    aminoacylase 1 deficiency    systolic heart failure    greig cephalopolysyndactyly syndrome    lung cancer


    Find genes that share disorders with ACY1           About GenesLikeMe

    6 Novoseek inferred disease relationships for ACY1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 33.3 2 1707030 (1), 19028700 (1)
    cancer lung 17.7 2 1707030 (1)
    small cell lung cancer 16.3 2 8394326 (1), 2006156 (1)
    tumors 0 5 19028700 (2), 1707030 (1), 8394326 (1), 12548635 (1)
    carcinoma 0 1 10516434 (1)
    cancer 0 1 16950796 (1)


    Export disorders for ACY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACY1 gene, integrated from 10 sources (see all 98):
    (articles sorted by number of sources associating them with ACY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. (PubMed id 16465618)1, 2, 9 Sass J.O.... Omran H. (Am. J. Hum. Genet. 2006)
    2. Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer. (PubMed id 8394326)1, 2, 9 Cook R.M.... Miller Y.E. (J. Biol. Chem. 1993)
    3. Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18. (PubMed id 1707030)1, 3, 9 Miller Y.E....Fisher J.H. (Genomics 1990)
    4. The nucleotide sequence of human aminoacylase-1. (PubMed id 8357837)1, 2, 9 Mitta M.... Tsunasawa S. (Biochim. Biophys. Acta 1993)
    5. Neurological findings in aminoacylase 1 deficiency. (PubMed id 17562838)1, 2, 9 Sass J.O.... Omran H. (Neurology 2007)
    6. Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family. (PubMed id 12933810)1, 2, 9 Lindner H.A.... Menard R. (J. Biol. Chem. 2003)
    7. Aminoacylase I deficiency: a novel inborn error of metabolism. (PubMed id 16274666)1, 2, 9 Van Coster R.N....Lissens W. (Biochem. Biophys. Res. Commun. 2005)
    8. The molecular basis of aminoacylase 1 deficiency. (PubMed id 21414403)1, 2 Sommer A.... Sass J.O. (Biochim. Biophys. Acta 2011)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. (PubMed id 6948533)1, 3 Voss R....Bobrow M. (Ann. Hum. Genet. 1980)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 95 HGNC: 177 AceView: ACY1andDKFZP564O243 Ensembl:ENSG00000243989 euGenes: HUgn95
    ECgene: ACY1 Kegg: 95 H-InvDB: ACY1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACY1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACY1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACY1 gene:
    Search GeneIP for patents involving ACY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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