DUT
entrez
1854
canonical
uniprot
P33316
canonical
ensembl
ENSG00000128951
resolver
ensp
ENSP00000370376
resolver
ensp
ENSP00000405160
resolver
ensp
ENSP00000453717
resolver
ensp
ENSP00000454183
resolver
enst
ENST00000558813
resolver
enst
ENST00000559416
resolver
genesymbol
DUT
resolver
hgnc
HGNC:3078
resolver
uniprot
A0A0C4DGL3
resolver
uniprot
A8K650
resolver
uniprot
B4DPR5
resolver
uniprot
H0YNW5
resolver
uniprot
O14785
resolver
uniprot
Q16708
resolver
uniprot
Q16860
resolver
uniprot
Q6FHN1
resolver
uniprot
Q6NSA3
resolver
uniprot
Q96Q81
resolver
uniprot_entry
A0A0C4DGL3_HUMAN
resolver
uniprot_entry
DUT_HUMAN
resolver
uniprot_entry
H0YNW5_HUMAN
resolver
uniprot_sec
A8K650
resolver
uniprot_sec
B4DPR5
resolver
uniprot_sec
O14785
resolver
uniprot_sec
Q16708
resolver
uniprot_sec
Q16860
resolver
uniprot_sec
Q6FHN1
resolver
uniprot_sec
Q6NSA3
resolver
uniprot_sec
Q96Q81
resolver
activity_regulation
ACTIVITY REGULATION: Phosphorylation is necessary for activity.
uniprot
proteins
amino_acid_sequence
MTPLCPRPALCYHFLTSLLRSAMQNARGARQRAEAAVLSGPGPPLGRAAQHGIPRPLSSAGRLSQGCRGASTVGAAGWKGELPKAGGSPAPGPETPAISPSKRARPAEVGGMQLRFARLSEHATAPTRGSARAAGYDLYSAYDYTIPPMEKAVVKTDIQIALPSGCYGRVAPRSGLAAKHFIDVGAGVIDEDYRGNVGVVLFNFGKEKFEVKKGDRIAQLICERIFYPEIEEVQALDDTERGSGGFGSTGKN
uniprot
proteins
disease_involvement
DISEASE: Bone marrow failure and diabetes mellitus syndrome (BMFDMS) [MIM:620044]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. {ECO:0000269|PubMed:28073829, ECO:0000269|PubMed:35611808, ECO:0000269|PubMed:35931051}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.23
uniprot
proteins
function
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 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). {ECO:0000250|UniProtKB:P70583, ECO:0000250|UniProtKB:Q9CQ43, ECO:0000269|PubMed:17880943, ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:8805593}.
uniprot
proteins
mass_dalton
26563
uniprot
proteins
mutagenesis
MUTAGEN 99; /note="S->A: Loss of phosphorylation."; /evidence="ECO:0000269|PubMed:8631817
uniprot
proteins
pathway_participation
PATHWAY: Pyrimidine metabolism; dUMP biosynthesis; dUMP from dCTP (dUTP route): step 2/2. {ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:8805593}.
uniprot
proteins
post_translational_modification
PTM: Nuclear isoform 2 is phosphorylated in vivo on Ser-11, a reaction that can be catalyzed in vitro by CDC2. Phosphorylation in mature T-cells occurs in a cell cycle-dependent manner. Isoform 3 is not phosphorylated. {ECO:0000269|PubMed:8389461}.
uniprot
proteins
protein_family
DUTPase family
uniprot
proteins
pubmed
1325640
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17880943
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28073829
uniprot
proteins
pubmed
35611808
uniprot
proteins
pubmed
35931051
uniprot
proteins
pubmed
8389461
uniprot
proteins
pubmed
8631816
uniprot
proteins
pubmed
8631817
uniprot
proteins
pubmed
8805593
uniprot
proteins
pubmed
9070952
uniprot
proteins
pubmed
9228092
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:9070952}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion {ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:9070952}.
uniprot
proteins