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NUDT15 nudix hydrolase 15 [ Homo sapiens (human) ]

Gene ID: 55270, updated on 26-Sep-2021

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
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Genomic context

See NUDT15 in Genome Data Viewer
Location:
13q14.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (48037726..48052755)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48611862..48626891)

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 subunit beta Neighboring gene Sharpr-MPRA regulatory region 3717 Neighboring gene MED4 antisense RNA 1 Neighboring gene mediator complex subunit 4

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10956, MGC104352

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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.

Genomic

  1. NG_047021.1 RefSeqGene

    Range
    5160..14655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304745.2NP_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, ENST00000258662.3
    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_136687.2 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AK001818, AL158196, DA760263

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    48037726..48052755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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