NUDT18 nudix hydrolase 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT18provided by HGNC
Official Full Name: nudix hydrolase 18provided by HGNC
Primary source: HGNC:HGNC:26194
See related: Ensembl:ENSG00000275074 MIM:615791; AllianceGenome:HGNC:26194
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: MTH3
Summary: The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]
Expression: Ubiquitous expression in spleen (RPKM 3.1), lymph node (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22106878..22110482, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22380831..22383394, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (21964389..21966932, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MTH3 is specifically active against 8-oxo-dGDP and hardly cleaves 8-oxo-dGTP. Other types of oxidized nucleoside diphosphates, 2-hydroxy-dADP and 8-hydroxy-dADP, were also hydrolyzed by MTH3.
Title: Human MTH3 (NUDT18) protein hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates: comparison with MTH1 and MTH2.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-hydroxy-dADP phosphatase activity	EXP Inferred from Experiment more info	PubMed
enables 8-hydroxy-dADP phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 8-oxo-GDP phosphatase activity	EXP Inferred from Experiment more info	PubMed
enables 8-oxo-GDP phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 8-oxo-GDP phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 8-oxo-dGDP phosphatase activity	EXP Inferred from Experiment more info	PubMed
enables 8-oxo-dGDP phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 8-oxo-dGDP phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dADP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dGDP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 8-oxo-dGDP phosphatase NUDT18

Names: 2-hydroxy-dADP phosphatase; 7,8-dihydro-8-oxoguanine phosphatase; mutT homolog 3; mutT human homolog 3; nucleoside diphosphate-linked moiety X motif 18; nudix (nucleoside diphosphate linked moiety X)-type motif 18; nudix motif 18

NP_079091.3

EC 3.6.1.58

XP_011542952.1

EC 3.6.1.58

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

NG_032941.1 RefSeqGene

Range

5001..7542

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024815.4 → NP_079091.3 8-oxo-dGDP phosphatase NUDT18

See identical proteins and their annotated locations for NP_079091.3

Status: REVIEWED

Source sequence(s)

AC091171, BC016902, DA015404

Consensus CDS

CCDS75706.1

UniProtKB/Swiss-Prot

Q6ZVK8, Q8IZ75, Q9H687

Related

ENSP00000480722.1, ENST00000611621.2

Conserved Domains (1) summary

cd04671
Location:44 → 166

Nudix_Hydrolase_13; 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 ...

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22106878..22110482 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544650.2 → XP_011542952.1 8-oxo-dGDP phosphatase NUDT18 isoform X1

Conserved Domains (1) summary

cd04671
Location:260 → 382

Nudix_Hydrolase_13; 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 ...