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    ABHD10 abhydrolase domain containing 10, depalmitoylase [ Homo sapiens (human) ]

    Gene ID: 55347, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ABHD10provided by HGNC
    Official Full Name
    abhydrolase domain containing 10, depalmitoylaseprovided by HGNC
    Primary source
    HGNC:HGNC:25656
    See related
    Ensembl:ENSG00000144827 MIM:618756; AllianceGenome:HGNC:25656
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD10 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (111979026..111993368)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114700126..114714476)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111697873..111712215)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology like domain family B member 2 Neighboring gene uncharacterized LOC105374040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111577934-111578520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111578521-111579105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20226 Neighboring gene uncharacterized LOC124906336 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:111637713-111638912 Neighboring gene Sharpr-MPRA regulatory region 1117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111697515-111698074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111704853-111705354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111705355-111705854 Neighboring gene NANOG hESC enhancer GRCh37_chr3:111719684-111720311 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111720792-111721991 Neighboring gene transgelin 3 Neighboring gene riboflavin kinase 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. Competitive activity-based protein profiling identifies aza-β-lactams as a versatile chemotype for serine hydrolase inhibition. Zuhl AM, et al. J Am Chem Soc, 2012 Mar 21. PMID 22400490, Free PMC Article
    2. An orphan esterase ABHD10 modulates probenecid acyl glucuronidation in human liver. Ito Y, et al. Drug Metab Dispos, 2014 Dec. PMID 25217485
    3. The emerging role of human esterases. Fukami T, et al. Drug Metab Pharmacokinet, 2012. PMID 22813719
    4. ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import. Li Q, et al. Proc Natl Acad Sci U S A, 2010 Dec 7. PMID 21078990, Free PMC Article
    5. Human α/β hydrolase domain containing 10 (ABHD10) is responsible enzyme for deglucuronidation of mycophenolic acid acyl-glucuronide in liver. Iwamura A, et al. J Biol Chem, 2012 Mar 16. PMID 22294686, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Which potently inhibited ABHD10 activity.
      Title: An orphan esterase ABHD10 modulates probenecid acyl glucuronidation in human liver.
    2. mitochondrial localization of rat Abhd10
      Title: ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import.
    3. ABHD10 is responsible for deglucuronidation of mycophenolic acid acyl-glucuronide in liver.
      Title: Human α/β hydrolase domain containing 10 (ABHD10) is responsible enzyme for deglucuronidation of mycophenolic acid acyl-glucuronide in liver.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ11342, FLJ36272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydrolase activity, hydrolyzing O-glycosyl compounds TAS
    Traceable Author Statement
    more info
    		  
    enables mycophenolic acid acyl-glucuronide esterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables palmitoyl-(protein) hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables palmitoyl-(protein) hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acyl deglucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular glucuronidation TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein depalmitoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    palmitoyl-protein thioesterase ABHD10, mitochondrial
    Names
    abhydrolase domain-containing protein 10, mitochondrial
    acyl-protein thioesterase ABHD10
    alpha/beta hydrolase domain-containing protein 10, mitochondrial
    mycophenolic acid acyl-glucuronide esterase, mitochondrial
    NP_001258998.1
    NP_060864.1

    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_001272069.2 → NP_001258998.1  palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001258998.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL713726, CA427297, DB453330, DR760607
      Consensus CDS
      CCDS63718.1
      UniProtKB/Swiss-Prot
      Q9NUJ1
      Related
      ENSP00000418973.1, ENST00000494817.1
      Conserved Domains (1) summary
      COG0596
      Location:65 → 180
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. NM_018394.4 → NP_060864.1  palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_060864.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL713726, BC014516, CA427297, DB453330
      Consensus CDS
      CCDS2963.1
      UniProtKB/Swiss-Prot
      B7Z6A8, C9IZX5, D3DN63, Q8TCF9, Q9NUJ1
      Related
      ENSP00000273359.3, ENST00000273359.8
      Conserved Domains (1) summary
      COG0596
      Location:65 → 291
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RNA

    1. NR_073570.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK300018, AL713726, CA427297

    2. NR_073571.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK300018, AL713726, CA427297, DB453330, DB494690

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      111979026..111993368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114700126..114714476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUJ1.1 GenPept UniProtKB/Swiss-Prot:Q9NUJ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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