NUDT9 nudix hydrolase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT9provided by HGNC
Official Full Name: nudix hydrolase 9provided by HGNC
Primary source: HGNC:HGNC:8056
See related: Ensembl:ENSG00000170502 MIM:606022; AllianceGenome:HGNC:8056
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: NUDT10
Summary: The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in kidney (RPKM 6.8), prostate (RPKM 6.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87422573..87459455)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (90749045..90788493)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88343725..88380607)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities.
Title: NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities.
Analysis of ligand binding and resulting conformational changes in pyrophosphatase NUDT9.
Title: Analysis of ligand binding and resulting conformational changes in pyrophosphatase NUDT9.
ADP-ribose reactive NUDT9 NUDIX hydrolase isoforms modulate HIF-1alpha in cancer cells
Title: The ADP-ribose reactive NUDIX hydrolase isoforms can modulate HIF-1α in cancer cells.
NUDT9 may be involved in the regulation of the menstrual cycle and may be related to the proliferation of glandular cells in the human endometrium
Title: Differential expression of NUDT9 at different phases of the menstrual cycle and in different components of normal and neoplastic human endometrium.
parallel enzymic characterization of the specific ADP-ribose pyrophosphatase from human placenta and a recombinant NUDT9 protein expressed from a cDNA clone was carried out
Title: The specific, submicromolar-Km ADP-ribose pyrophosphatase purified from human placenta is enzymically indistinguishable from recombinant NUDT9 protein, including a selectivity for Mn2+ as activating cation and increase in Km for ADP-ribose, both elicited by H2O2.
Data report the crystal structures of NUDT9 in the presence and in the absence of the reaction product ribose 5'-phosphate.
Title: The crystal structure and mutational analysis of human NUDT9.
analysis of the human NUDT9 gene and its potential alternative transcripts along with detailed studies of the enzymatic properties and cell biological behavior of human NUDT9 protein
Title: NUDT9, a member of the Nudix hydrolase family, is an evolutionarily conserved mitochondrial ADP-ribose pyrophosphatase.
Hydrolyses ADP-ribose to AMP and ribose-5-phosphate
Title: Cloning, expression and characterisation of a human Nudix hydrolase specific for adenosine 5'-diphosphoribose (ADP-ribose).

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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 ADP-ribose diphosphatase activity	EXP Inferred from Experiment more info	PubMed
enables ADP-sugar diphosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ADP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ADP-ribose pyrophosphatase, mitochondrial

Names: ADP-ribose diphosphatase; ADP-ribose phosphohydrolase; ADP-ribose pyrosphosphatase NUDT9; ADPR-PPase; adenosine diphosphoribose pyrophosphatase; nucleoside diphosphate linked moiety X-type motif 9; nudix (nucleoside diphosphate linked moiety X)-type motif 9

NP_001234940.1

EC 3.6.1.13

NP_076952.1

EC 3.6.1.13

NP_932155.1

EC 3.6.1.13

XP_011530334.1

EC 3.6.1.13

XP_054206165.1

EC 3.6.1.13

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_030358.1 RefSeqGene

Range

4998..41880

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001248011.2 → NP_001234940.1 ADP-ribose pyrophosphatase, mitochondrial isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (c) missing an internal protein segment compared to isoform a.

Source sequence(s)

AC112250, AK027295, AK074845, AK308028, BP277630

UniProtKB/TrEMBL

Q96KB3

Related

ENSP00000410270.2, ENST00000440591.6

Conserved Domains (1) summary

cd03670
Location:117 → 303

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...
NM_024047.5 → NP_076952.1 ADP-ribose pyrophosphatase, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_076952.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as NUDT9 alpha) represents the predominant transcript, and encodes the longest isoform (a). This isoform is localized in the mitochondria (PMID:12427752).

Source sequence(s)

AC112250, AK027295, AK074845, BP277630

Consensus CDS

CCDS3620.1

UniProtKB/Swiss-Prot

Q8NBN1, Q8NCB9, Q8NG25, Q9BW91

UniProtKB/TrEMBL

Q96KB3

Related

ENSP00000303575.4, ENST00000302174.9

Conserved Domains (1) summary

cd03670
Location:149 → 335

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...
NM_198038.3 → NP_932155.1 ADP-ribose pyrophosphatase, mitochondrial isoform b

See identical proteins and their annotated locations for NP_932155.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as NUDT9 beta) contains an alternatively spliced 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (b) with a shorter N-terminus compared to isoform a. This isoform lacks the signal peptide and is not targeted to the mitochondria (PMID:12427752).

Source sequence(s)

AC112250, AF265341, AK074845

Consensus CDS

CCDS3621.1

UniProtKB/TrEMBL

Q8NG26

Related

ENSP00000421811.1, ENST00000473942.5

Conserved Domains (1) summary

cd03670
Location:99 → 285

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

87422573..87459455

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532032.3 → XP_011530334.1 ADP-ribose pyrophosphatase, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011530334.1

UniProtKB/TrEMBL

Q8NG26

Conserved Domains (1) summary

cd03670
Location:99 → 285

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...