Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1854
Gene name	Deoxyuridine triphosphatase
Gene symbol	DUT
Synonyms (NCBI Gene)	BMFDMSdUTPase
Chromosome	15
Chromosome location	15q21.1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016364	hsa-miR-193b-3p	Proteomics	21512034
MIRT019818	hsa-miR-375	Microarray	20215506
MIRT025455	hsa-miR-34a-5p	Proteomics	21566225
MIRT029453	hsa-miR-26b-5p	Microarray	19088304
MIRT037723	hsa-miR-744-5p	CLASH	23622248
MIRT036432	hsa-miR-1226-3p	CLASH	23622248
MIRT727838	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727837	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT948399	hsa-miR-127-5p	CLIP-seq
MIRT948400	hsa-miR-130a	CLIP-seq
MIRT948401	hsa-miR-130b	CLIP-seq
MIRT948402	hsa-miR-1323	CLIP-seq
MIRT948403	hsa-miR-197	CLIP-seq
MIRT948404	hsa-miR-19a	CLIP-seq
MIRT948405	hsa-miR-19b	CLIP-seq
MIRT948406	hsa-miR-203	CLIP-seq
MIRT948407	hsa-miR-2053	CLIP-seq
MIRT948408	hsa-miR-24	CLIP-seq
MIRT948409	hsa-miR-301a	CLIP-seq
MIRT948410	hsa-miR-301b	CLIP-seq
MIRT948411	hsa-miR-3148	CLIP-seq
MIRT948412	hsa-miR-3154	CLIP-seq
MIRT948413	hsa-miR-320a	CLIP-seq
MIRT948414	hsa-miR-320b	CLIP-seq
MIRT948415	hsa-miR-320c	CLIP-seq
MIRT948416	hsa-miR-320d	CLIP-seq
MIRT948417	hsa-miR-330-3p	CLIP-seq
MIRT948418	hsa-miR-3591-3p	CLIP-seq
MIRT948419	hsa-miR-3666	CLIP-seq
MIRT948420	hsa-miR-4284	CLIP-seq
MIRT948421	hsa-miR-4295	CLIP-seq
MIRT948422	hsa-miR-4429	CLIP-seq
MIRT948423	hsa-miR-454	CLIP-seq
MIRT948424	hsa-miR-4635	CLIP-seq
MIRT948425	hsa-miR-4704-5p	CLIP-seq
MIRT948426	hsa-miR-4754	CLIP-seq
MIRT948427	hsa-miR-4761-5p	CLIP-seq
MIRT948428	hsa-miR-499-3p	CLIP-seq
MIRT948429	hsa-miR-499a-3p	CLIP-seq
MIRT948430	hsa-miR-519a	CLIP-seq
MIRT948431	hsa-miR-519b-3p	CLIP-seq
MIRT948432	hsa-miR-519c-3p	CLIP-seq
MIRT948433	hsa-miR-548a-5p	CLIP-seq
MIRT948434	hsa-miR-548ab	CLIP-seq
MIRT948435	hsa-miR-548ae	CLIP-seq
MIRT948436	hsa-miR-548ag	CLIP-seq
MIRT948437	hsa-miR-548ai	CLIP-seq
MIRT948438	hsa-miR-548aj	CLIP-seq
MIRT948439	hsa-miR-548ak	CLIP-seq
MIRT948440	hsa-miR-548am	CLIP-seq
MIRT948441	hsa-miR-548b-5p	CLIP-seq
MIRT948442	hsa-miR-548c-5p	CLIP-seq
MIRT948443	hsa-miR-548d-5p	CLIP-seq
MIRT948444	hsa-miR-548h	CLIP-seq
MIRT948445	hsa-miR-548i	CLIP-seq
MIRT948446	hsa-miR-548j	CLIP-seq
MIRT948447	hsa-miR-548n	CLIP-seq
MIRT948448	hsa-miR-548o	CLIP-seq
MIRT948449	hsa-miR-548p	CLIP-seq
MIRT948450	hsa-miR-548w	CLIP-seq
MIRT948451	hsa-miR-548x	CLIP-seq
MIRT948452	hsa-miR-548y	CLIP-seq
MIRT948453	hsa-miR-559	CLIP-seq
MIRT948454	hsa-miR-561	CLIP-seq
MIRT948455	hsa-miR-569	CLIP-seq
MIRT948456	hsa-miR-628-3p	CLIP-seq
MIRT948457	hsa-miR-640	CLIP-seq
MIRT948458	hsa-miR-1208	CLIP-seq
MIRT948459	hsa-miR-137	CLIP-seq
MIRT948403	hsa-miR-197	CLIP-seq
MIRT948411	hsa-miR-3148	CLIP-seq
MIRT948417	hsa-miR-330-3p	CLIP-seq
MIRT948460	hsa-miR-3653	CLIP-seq
MIRT948461	hsa-miR-3658	CLIP-seq
MIRT948462	hsa-miR-4422	CLIP-seq
MIRT948463	hsa-miR-452	CLIP-seq
MIRT948464	hsa-miR-4676-3p	CLIP-seq
MIRT948465	hsa-miR-4720-3p	CLIP-seq
MIRT948426	hsa-miR-4754	CLIP-seq
MIRT948466	hsa-miR-4804-3p	CLIP-seq
MIRT948428	hsa-miR-499-3p	CLIP-seq
MIRT948429	hsa-miR-499a-3p	CLIP-seq
MIRT948458	hsa-miR-1208	CLIP-seq
MIRT948400	hsa-miR-130a	CLIP-seq
MIRT948401	hsa-miR-130b	CLIP-seq
MIRT2216134	hsa-miR-1910	CLIP-seq
MIRT948403	hsa-miR-197	CLIP-seq
MIRT948404	hsa-miR-19a	CLIP-seq
MIRT948405	hsa-miR-19b	CLIP-seq
MIRT948406	hsa-miR-203	CLIP-seq
MIRT2216135	hsa-miR-2276	CLIP-seq
MIRT948409	hsa-miR-301a	CLIP-seq
MIRT948410	hsa-miR-301b	CLIP-seq
MIRT948412	hsa-miR-3154	CLIP-seq
MIRT948417	hsa-miR-330-3p	CLIP-seq
MIRT948418	hsa-miR-3591-3p	CLIP-seq
MIRT948419	hsa-miR-3666	CLIP-seq
MIRT948421	hsa-miR-4295	CLIP-seq
MIRT948463	hsa-miR-452	CLIP-seq
MIRT948423	hsa-miR-454	CLIP-seq
MIRT2216136	hsa-miR-455-3p	CLIP-seq
MIRT948464	hsa-miR-4676-3p	CLIP-seq
MIRT2216137	hsa-miR-4686	CLIP-seq
MIRT2216138	hsa-miR-4772-3p	CLIP-seq
MIRT948428	hsa-miR-499-3p	CLIP-seq
MIRT948429	hsa-miR-499a-3p	CLIP-seq
MIRT948430	hsa-miR-519a	CLIP-seq
MIRT948431	hsa-miR-519b-3p	CLIP-seq
MIRT948432	hsa-miR-519c-3p	CLIP-seq
MIRT948436	hsa-miR-548ag	CLIP-seq
MIRT948437	hsa-miR-548ai	CLIP-seq
MIRT948456	hsa-miR-628-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001889	Process	Liver development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004170	Function	DUTP diphosphatase activity	IBA
GO:0004170	Function	DUTP diphosphatase activity	IDA	8631816
GO:0004170	Function	DUTP diphosphatase activity	IEA
GO:0004170	Function	DUTP diphosphatase activity	TAS	8631816
GO:0005515	Function	Protein binding	IPI	16189514, 19060904
GO:0005634	Component	Nucleus	IDA	8631816
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8631816
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8631816
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	1325640
GO:0006226	Process	DUMP biosynthetic process	IBA
GO:0006226	Process	DUMP biosynthetic process	IEA
GO:0006231	Process	DTMP biosynthetic process	IDA	10952785, 15322254
GO:0006260	Process	DNA replication	TAS	1325640
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009177	Process	Pyrimidine deoxyribonucleoside monophosphate biosynthetic process	IEA
GO:0009221	Process	Pyrimidine deoxyribonucleotide biosynthetic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030547	Function	Signaling receptor inhibitor activity	IEA
GO:0032556	Function	Pyrimidine deoxyribonucleotide binding	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IEA
GO:0046081	Process	DUTP catabolic process	IBA
GO:0046081	Process	DUTP catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
601266	3078	ENSG00000128951

P33316

Protein name

Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial (dUTPase) (EC 3.6.1.23) (dUTP pyrophosphatase)

Protein function

Catalyzes the cleavage of 2'-deoxyuridine 5'-triphosphate (dUTP) into 2'-deoxyuridine 5'-monophosphate (dUMP) and inorganic pyrophosphate and through its action efficiently prevents uracil misincorporation into DNA and at the same time provides

PDB

1Q5H , 1Q5U , 2HQU , 3ARA , 3ARN , 3EHW , 4MZ5 , 4MZ6 , 5H4J , 7PWJ , 8C8I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00692	dUTPase	121 → 250	dUTPase	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in a variety of tissues. Isoform 3 expression is constitutive, while isoform 2 expression correlates with the onset of DNA replication (at protein level). Isoform 2 degradation coincides with the cessation of nuclear DNA replicat

Sequence

MTPLCPRPALCYHFLTSLLRSAMQNARGARQRAEAAVLSGPGPPLGRAAQHGIPRPLSSA
GRLSQGCRGASTVGAAGWKGELPKAGGSPAPGPETPAISPSKRARPAEVGGMQLRFARLS
EHATAPTRGSARAAGYDLYSAYDYTIPPMEKAVVKTDIQIALPSGCYGRVAPRSGLAAKH
FIDVGAGVIDEDYRGNVGVVLFNFGKEKFEVKKGDRIAQLICERIFYPEIEEVQALDDTE
RGSGGFGSTGKN

Sequence length

252

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Interconversion of nucleotide di- and triphosphates

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bone marrow failure and diabetes mellitus syndrome	Likely pathogenic	rs373184762	RCV002285135	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34721732	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Associate	21776007	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Associate	34584184	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	18790783, 27452458	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	36075487, 38003473	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	30679536	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Associate	27452458	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	19052026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	34584184	★★★★★ ★☆☆☆☆ Found in Text Mining only
Herpes Simplex	Associate	6115860	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	36114511	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infections	Associate	20084279	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	38003473	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	19052026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27452458, 36075487	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillomavirus Infections	Associate	30679536	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Associate	21776007	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	37396720	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Associate	20084279, 30679536	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	30679536	★★★★★ ★☆☆☆☆ Found in Text Mining only

DUT (deoxyuridine triphosphatase)