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    ACY3 aminoacylase 3 [ Homo sapiens (human) ]

    Gene ID: 91703, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ACY3provided by HGNC
    Official Full Name
    aminoacylase 3provided by HGNC
    Primary source
    HGNC:HGNC:24104
    See related
    Ensembl:ENSG00000132744 MIM:614413; AllianceGenome:HGNC:24104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACY-3; ASPA2; HCBP1
    Summary
    Predicted to enable aminoacylase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 28.0), duodenum (RPKM 26.6) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACY3 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67642555..67650730, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67637243..67645420, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67410026..67418201, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67399437-67399966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67400495-67401024 Neighboring gene nudix hydrolase 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401025-67401552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401848-67402406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67402407-67402965 Neighboring gene T-box transcription factor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67411697-67412266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67412267-67412834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67416073-67416595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5124 Neighboring gene aldehyde dehydrogenase 3 family member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5125 Neighboring gene ribosomal protein L37 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel protein binding to hepatitis C virus core protein. Chen YR, et al. J Gastroenterol Hepatol, 2009 Jul. PMID 19486448
    2. Structural characterization, tissue distribution, and functional expression of murine aminoacylase III. Pushkin A, et al. Am J Physiol Cell Physiol, 2004 Apr. PMID 14656720
    3. Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L. Araki N, et al. Biochem Biophys Res Commun, 2009 Oct 16. PMID 19664597
    4. Genetic determinants influencing human serum metabolome among African Americans. Yu B, et al. PLoS Genet, 2014 Mar. PMID 24625756, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic determinants influencing human serum metabolome among African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9740

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminoacylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aminoacylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables hydrolase activity, acting on ester bonds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)
    Names
    HCV core-binding protein 1
    acylase III
    aspartoacylase (aminoacylase) 3
    aspartoacylase (aminocyclase) 3
    aspartoacylase-2
    hepatitis C virus core-binding protein 1
    NP_542389.1
    XP_016874038.1
    XP_016874039.1
    XP_016874040.1
    XP_047283824.1
    XP_054226471.1
    XP_054226472.1
    XP_054226473.1
    XP_054226474.1
    XP_054226475.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_080658.2 → NP_542389.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)

      See identical proteins and their annotated locations for NP_542389.1

      Status: VALIDATED

      Source sequence(s)
      AP003385, BC008689
      Consensus CDS
      CCDS8175.1
      UniProtKB/Swiss-Prot
      Q96HD9
      Related
      ENSP00000255082.3, ENST00000255082.8
      Conserved Domains (1) summary
      cd06909
      Location:12 → 300
      M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67642555..67650730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427868.1 → XP_047283824.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X3

      UniProtKB/TrEMBL
      E9PRA7
      Related
      ENSP00000434270.1, ENST00000529256.1

    2. XM_017018551.2 → XP_016874040.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X2

    3. XM_017018549.2 → XP_016874038.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1

    4. XM_017018550.2 → XP_016874039.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67637243..67645420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370500.1 → XP_054226475.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X3

      UniProtKB/TrEMBL
      E9PRA7

    2. XM_054370499.1 → XP_054226474.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X4

    3. XM_054370498.1 → XP_054226473.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X2

    4. XM_054370496.1 → XP_054226471.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1

    5. XM_054370497.1 → XP_054226472.1  N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HD9.1 GenPept UniProtKB/Swiss-Prot:Q96HD9

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