NUDT5 nudix hydrolase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT5provided by HGNC
Official Full Name: nudix hydrolase 5provided by HGNC
Primary source: HGNC:HGNC:8052
See related: Ensembl:ENSG00000165609 MIM:609230; AllianceGenome:HGNC:8052
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: YSA1; YSA1H; YSAH1; hNUDT5
Summary: This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in liver (RPKM 12.0), skin (RPKM 11.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p14

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (12165330..12195891, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (12176604..12207161, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (12207329..12237890, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The novel phosphatase NUDT5 is a critical regulator of triple-negative breast cancer growth.
Title: The novel phosphatase NUDT5 is a critical regulator of triple-negative breast cancer growth.
NUDT5-Determines the fate of head and neck squamous cell carcinoma cells under endoplasmic reticulum stress by catalyzing nuclear ATP production to promote DNA repair.
Title: NUDT5-Determines the fate of head and neck squamous cell carcinoma cells under endoplasmic reticulum stress by catalyzing nuclear ATP production to promote DNA repair.
Silencing of Nudix type 5 represses proliferation and invasion and enhances chemosensitivity of gastric carcinoma cells by affecting the AKT/GSK-3beta/beta-catenin pathway.
Title: Silencing of Nudix type 5 represses proliferation and invasion and enhances chemosensitivity of gastric carcinoma cells by affecting the AKT/GSK-3β/β-catenin pathway.
The high expression of NUDT5 indicates poor prognosis of breast cancer by modulating AKT / Cyclin D signaling.
Title: The high expression of NUDT5 indicates poor prognosis of breast cancer by modulating AKT / Cyclin D signaling.
The high expression of MTH1 and NUDT5 promotes tumor metastasis and indicates a poor prognosis in patients with non-small-cell lung cancer.
Title: The high expression of MTH1 and NUDT5 promotes tumor metastasis and indicates a poor prognosis in patients with non-small-cell lung cancer.
Data suggest that targeting nudix hydrolase 5 (NUDT5) may represent a promising new therapeutic approach for breast cancer treatment.
Title: Targeted NUDT5 inhibitors block hormone signaling in breast cancer cells.
In the presence of pyrophosphate, ADP-ribose is used by the pyrophosphatase NUDIX5 to generate nuclear ATP.
Title: ADP-ribose-derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling.
The NUDT5 protein could play significant roles in the prevention of RNA oxidation and survival in human fibroblast cells.
Title: Lowered Nudix type 5 expression leads to cellular senescence in IMR-90 fibroblast cells.
Results suggest that the NUDT5 protein may play significant roles in regulating the G1-S transition in HeLa cells.
Title: Lowered nudix type 5 (NUDT5) expression leads to cell cycle retardation in HeLa cells.
The human NUDT5, which has an intrinsic activity to cleave ADP sugars to AMP and sugar phosphate, possesses the ability to degrade 8-oxo-dGDP to the monophosphate.
Title: Cleavage of oxidized guanine nucleotide and ADP sugar by human NUDT5 protein.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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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Markers

RH17930 (e-PCR)
- UniSTS:85352

SHGC-33307 (e-PCR)
- UniSTS:81517

RH104131 (e-PCR)
- UniSTS:98456

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 8-oxo-GDP phosphatase activity	IEA Inferred from Electronic Annotation more info
enables 8-oxo-dGDP phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables ADP-ribose diphosphatase activity	EXP Inferred from Experiment more info	PubMed
enables ADP-ribose diphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ADP-ribose diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables ADP-sugar diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables snoRNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ATP generation from poly-ADP-D-ribose	IDA Inferred from Direct Assay more info	PubMed
involved_in D-ribose catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in D-ribose catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
involved_in nucleoside phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ribonucleoside diphosphate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ribose phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ADP-sugar pyrophosphatase

Names: 8-oxo-dGDP phosphatase; nuclear ATP-synthesis protein NUDIX5; nudix (nucleoside diphosphate linked moiety X)-type motif 5

NP_001308576.1

EC 2.7.7.96

EC 3.6.1.13

EC 3.6.1.58

NP_001308577.1

EC 2.7.7.96

EC 3.6.1.13

EC 3.6.1.58

NP_054861.2

EC 2.7.7.96

EC 3.6.1.13

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.

mRNA and Protein(s)

NM_001321647.2 → NP_001308576.1 ADP-sugar pyrophosphatase isoform 2

Status: VALIDATED

Source sequence(s)

AC073160, AL512770

UniProtKB/TrEMBL

A6NFX8

Conserved Domains (1) summary

cd03424
Location:60 → 204

ADPRase_NUDT5; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose and a variety of additional ADP-sugar conjugates to AMP and ribose-5-phosphate. Like other members of the Nudix hydrolase superfamily, it requires a divalent cation, such as Mg2+, ...
NM_001321648.2 → NP_001308577.1 ADP-sugar pyrophosphatase isoform 3

Status: VALIDATED

Source sequence(s)

AC073160, AL512770

Conserved Domains (1) summary

cd03424
Location:1 → 121

ADPRase_NUDT5; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose and a variety of additional ADP-sugar conjugates to AMP and ribose-5-phosphate. Like other members of the Nudix hydrolase superfamily, it requires a divalent cation, such as Mg2+, ...
NM_014142.4 → NP_054861.2 ADP-sugar pyrophosphatase isoform 1

See identical proteins and their annotated locations for NP_054861.2

Status: VALIDATED

Source sequence(s)

AC073160, AF155832, BC000025, CA944803

Consensus CDS

CCDS7089.1

UniProtKB/Swiss-Prot

A8K516, Q6IAG0, Q9UH49, Q9UKK9

UniProtKB/TrEMBL

A6NFX8

Related

ENSP00000419628.1, ENST00000491614.6

Conserved Domains (1) summary

cd03424
Location:60 → 207

ADPRase_NUDT5; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose and a variety of additional ADP-sugar conjugates to AMP and ribose-5-phosphate. Like other members of the Nudix hydrolase superfamily, it requires a divalent cation, such as Mg2+, ...