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

    Gene ID: 55347, updated on 15-Jun-2019

    Summary

    Official Symbol
    ABHD10provided by HGNC
    Official Full Name
    abhydrolase domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:25656
    See related
    Ensembl:ENSG00000144827
    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

    Genomic context

    See ABHD10 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (111978876..111993368)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111697723..111712215)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 2 Neighboring gene pleckstrin homology like domain family B member 2 Neighboring gene uncharacterized LOC107984087 Neighboring gene uncharacterized LOC105374040 Neighboring gene transgelin 3 Neighboring gene riboflavin kinase pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Glucuronidation, organism-specific biosystem (from REACTOME)
      Glucuronidation, organism-specific biosystemGlucuronidation conjugation utilizes UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17) to catalyze a wide range of diverse endogenous and xenobiotic compounds. Glucuronidation is the major pathway in ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Phase II conjugation, organism-specific biosystem (from REACTOME)
      Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11342, FLJ36272

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular glucuronidation TAS
    Traceable Author Statement
    more info
     
    glucuronoside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mycophenolic acid acyl-glucuronide esterase, mitochondrial
    Names
    abhydrolase domain-containing protein 10, mitochondrial
    alpha/beta hydrolase domain-containing protein 10, mitochondrial
    NP_001258998.1
    NP_060864.1
    XP_011511262.1

    NCBI Reference Sequences (RefSeq)

    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_001272069.2NP_001258998.1  mycophenolic acid acyl-glucuronide esterase, 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:65180
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    2. NM_018394.4NP_060864.1  mycophenolic acid acyl-glucuronide esterase, 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
      Q9NUJ1
      Related
      ENSP00000273359.3, ENST00000273359.8
      Conserved Domains (1) summary
      COG0596
      Location:65291
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RNA

    1. NR_073570.1 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, DB453330, DC395725
    2. NR_073571.1 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, DC395725

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      111978876..111993368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512960.3XP_011511262.1  mycophenolic acid acyl-glucuronide esterase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511262.1

      UniProtKB/Swiss-Prot
      Q9NUJ1
      Conserved Domains (1) summary
      COG0596
      Location:65180
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
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