NUDT15 - nudix hydrolase 15 Gene

Also Known as MTH2; NUDT15D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55270

About NUDT15

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:48,037,726-48,052,755 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 4.7), duodenum (RPKM 4.1) and 25 other tissues.

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]

NUDT15 Products (2)

mRNA	Protein	Name
NM_001304745.2	NP_001291674.1	nucleotide triphosphate diphosphatase NUDT15 isoform 2
NM_018283.4	NP_060753.1	nucleotide triphosphate diphosphatase NUDT15 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Referencias	Source
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	EXP EXP: Inferred from Experiment	22556419	GOA
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA IDA: Inferred from direct assay	22556419	GOA
enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA IDA: Inferred from direct assay	22556419	GOA
enables 8-oxo-dGDP phosphatase activity	EXP EXP: Inferred from Experiment	22556419	GOA
enables nucleoside triphosphate diphosphatase activity	IDA IDA: Inferred from direct assay	26238318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19419956	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
NOT involved in DNA protection	IMP IMP: Inferred from mutant phenotype	26238318	GOA
involved in DNA protection	IMP IMP: Inferred from mutant phenotype	26878724	GOA
involved in dGTP catabolic process	IDA IDA: Inferred from direct assay	22556419	GOA
involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	19419956	GOA
involved in nucleoside phosphate catabolic process	IDA IDA: Inferred from direct assay	26238318	GOA
involved in nucleoside phosphate catabolic process	IMP IMP: Inferred from mutant phenotype	26878724	GOA
involved in purine nucleotide catabolic process	IMP IMP: Inferred from mutant phenotype	26878724	GOA
involved in regulation of proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	19419956	GOA
involved in xenobiotic catabolic process	IMP IMP: Inferred from mutant phenotype	26878724	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUDT15 Protein Structure

NUDIX

0
100
164 a.a.

Protein Preferred Names	Protein Names
nucleotide triphosphate diphosphatase NUDT15	8-oxo-dGTPase NUDT15

Related Diseases

Diseases	Alias
Thiopurines, Poor Metabolism Of, 2	THPM2 Nudt15 Deficiency
Leukemia, Acute Lymphoblastic 3	Leukemia, Acute Lymphoblastic, Susceptibility To, 3 ALL3 Precursor B-Cell Acute Lymphoblastic Leukemia B-All Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor B-Cell Acute Lymphocytic Leukemia Precursor B-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Burkitt Lymphoma Precursor B-Cell Lymphoblastic Leukemia
Thiopurines, Poor Metabolism Of, 1	Thiopurine S-Methyltransferase Deficiency Tpmt Deficiency Thiopurine Methyltransferase Deficiency Thiopurine S Methyltranferase Deficiency THPM1 Tpmtd Poor Metabolism Of Thiopurines-1 6-Mercaptopurine Sensitivity Thiopurines, Poor Metabolism Of Poor Metabolism Of Thiopurines
Precursor T-Cell Acute Lymphoblastic Leukemia	T-All Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor T-Cell Acute Lymphocytic Leukemia Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Adult T-Cell Lymphoma/Leukemia
Alopecia
Liver Rhabdomyosarcoma	Rhabdomyosarcoma Of Liver
Gastroduodenal Crohn'S Disease	Upper Gi Crohn'S Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-139193	TH1760	Inhibitor	/	Unkown
HY-RS09665	NUDT15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NUDT15	MGD	MGI:2443366
Bos taurus	NUDT15	VGNC	VGNC:32329
Macaca mulatta	NUDT15	VGNC	VGNC:106278
Rattus norvegicus	NUDT15	RGD	RGD:1308292
Felis catus	NUDT15	VGNC	VGNC:102274
Canis familiaris	NUDT15	VGNC	VGNC:44027
Others	NUDT15	NCBI