DUT - deoxyuridine triphosphatase Gene

Homo sapiens

Also known as BMFDMS; dUTPase

Gene ID: 1854 | Gene type: protein coding

About DUT

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:48,331,095-48,343,373 (from NCBI)

This gene has 11 transcripts (splice variants) and 263 orthologues. Ubiquitous expression in bone marrow (RPKM 16.5), lymph node (RPKM 14.4) and 25 other tissues.

Summary

This gene encodes an essential Enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric Enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]

DUT Products(4)

mRNA	Protein	Name
NM_001025248.2	NP_001020419.1	deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 1 precursor
NM_001025249.1	NP_001020420.1	deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 3
NM_001330286.2	NP_001317215.1	deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 4
NM_001948.4	NP_001939.1	deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dUTP diphosphatase activity	IDA IDA: Inferred from direct assay	8631816	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in dTMP biosynthetic process	IDA IDA: Inferred from direct assay	10952785	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in nucleus	IDA IDA: Inferred from direct assay	8631816	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

DUT Protein Structure

dUTPase

0
100
200
252 a.a.

Protein Preferred Names

Protein Names

deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial

dUTP diphosphatase

DUT Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DUT	P33316	NUDT18	Homo sapiens	Q6ZVK8	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DUT Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70026	dUTPase/DUT Protein, Human	P33316-2 (M1-N164)	≥95%

Related Diseases

Diseases

Alias

Bone Marrow Failure And Diabetes Mellitus Syndrome

BMFDMS

Cysticercosis

Neurocysticercosis	Submacular Cysticercosis
Intestinal Taenia Solium Infection	Pork Tapeworm Infection
Tapeworm Infection: Intestinal Taenia Solum	Tapeworm Infection: Pork
Tenia Solium Infectious Disease	Taeniasis
Tenia Solium Infection	Cysticerciasis Infection Due To Larval Form Of Taenia Solium

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04071	DUT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DUT	MGD	MGI:1346051
Rattus norvegicus	DUT	RGD	RGD:620849
Canis familiaris	DUT	VGNC	VGNC:59110
Others	DUT	NCBI

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