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ACY3 aminoacylase 3 [ Homo sapiens (human) ]

Gene ID: 91703, updated on 14-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
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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 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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