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    NUDT15 nudix hydrolase 15 [ Homo sapiens (human) ]

    Gene ID: 55270, updated on 9-Dec-2018

    Summary

    Official Symbol
    NUDT15provided by HGNC
    Official Full Name
    nudix hydrolase 15provided by HGNC
    Primary source
    HGNC:HGNC:23063
    See related
    Ensembl:ENSG00000136159 MIM:615792
    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
    Also known as
    MTH2; NUDT15D
    Summary
    This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in colon (RPKM 4.7), duodenum (RPKM 4.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See NUDT15 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (48037567..48052742)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48611703..48621282)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 444 Neighboring gene long intergenic non-protein coding RNA 562 Neighboring gene succinate-CoA ligase ADP-forming beta subunit Neighboring gene MED4 antisense RNA 1 Neighboring gene uncharacterized LOC105370198 Neighboring gene mediator complex subunit 4 Neighboring gene RNA polymerase II subunit K 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...
    • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
      Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
    • Phosphate bond hydrolysis by NUDT proteins, organism-specific biosystem (from REACTOME)
      Phosphate bond hydrolysis by NUDT proteins, organism-specific biosystemEnzymes that belong to the NUDT (Nudix) superfamily catalyze the hydrolysis of phosphodiester bonds in molecules including nucleoside triphosphates and diphosphates and nucleotide sugars. Family memb...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10956, MGC104352

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    DNA protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT DNA protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dGTP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dGTP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    exogenous drug catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleobase-containing small molecule catabolic process TAS
    Traceable Author Statement
    more info
     
    nucleoside phosphate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoside phosphate catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    purine nucleotide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    nucleotide triphosphate diphosphatase NUDT15
    Names
    8-oxo-dGTPase NUDT15
    mutT homolog 2
    nucleoside diphosphate-linked to another moiety X hydrolase 15
    nudix (nucleoside diphosphate linked moiety X)-type motif 15
    probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15
    probable 8-oxo-dGTP diphosphatase NUDT15
    NP_001291674.1
    NP_060753.1

    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.

    Genomic

    1. NG_047021.1 RefSeqGene

      Range
      5001..14662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304745.1NP_001291674.1  nucleotide triphosphate diphosphatase NUDT15 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
      Source sequence(s)
      AK001818, BC050698
      UniProtKB/Swiss-Prot
      Q9NV35
      Conserved Domains (1) summary
      cl00447
      Location:28119
      Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
    2. NM_018283.4NP_060753.1  nucleotide triphosphate diphosphatase NUDT15 isoform 1

      See identical proteins and their annotated locations for NP_060753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK001818, BC064607
      Consensus CDS
      CCDS9407.1
      UniProtKB/Swiss-Prot
      Q9NV35
      Related
      ENSP00000258662.1, ENST00000258662.2
      Conserved Domains (1) summary
      cd04678
      Location:28143
      Nudix_Hydrolase_19; Members of the Nudix hydrolase superfamily catalyze the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+, for their activity and contain a highly ...

    RNA

    1. NR_136687.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK001818, AL158196, DA000395, DA218525
    2. NR_136688.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK001818, AL158196, DA760263

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      48037567..48052742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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