DUT

Chr 15q21.1

deoxyuridine triphosphatase

Aliases:: dUTPase
MANE:: ENST00000331200.8

OMIM: 601266 ↗NCBI: 1854 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DUT · P33316

v62025-08-01

Predicted Aligned Error matrix for DUT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.3/ 100

Confident

252 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)6%
Low(50–70)18%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

bone marrow failure and diabetes mellitus syndrome
0.58
neurodegenerative disease
0.55
benign neoplasm of eye
0.14
myopia
0.11
pathological myopia
0.11
abdominal aortic aneurysm
0.07
spontaneous coronary artery dissection
0.06
Abnormality of the skeletal system
0.06
refractive error
0.06
Abnormality of refraction
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial

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 dUMP, the substrate for de novo thymidylate biosynthesis (PubMed:17880943, PubMed:8631816, PubMed:8805593). Inhibits peroxisome proliferator-activated receptor (PPAR) activity by binding of its N-terminal to PPAR, preventing the latter's dimerization with retinoid X receptor (By similarity). Essential for embryonic development (By similarity)