Human Gene DUT (ENST00000331200.8_6) from GENCODE V47lift37
  Description: deoxyuridine triphosphatase, transcript variant 1 (from RefSeq NM_001025248.2)
Gencode Transcript: ENST00000331200.8_6
Gencode Gene: ENSG00000128951.14_10
Transcript (Including UTRs)
   Position: hg19 chr15:48,623,626-48,635,570 Size: 11,945 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr15:48,623,713-48,634,275 Size: 10,563 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:48,623,626-48,635,570)mRNA (may differ from genome)Protein (252 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DUT_HUMAN
DESCRIPTION: RecName: Full=Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial; Short=dUTPase; EC=3.6.1.23; AltName: Full=dUTP pyrophosphatase; Flags: Precursor;
FUNCTION: This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA.
CATALYTIC ACTIVITY: dUTP + H(2)O = dUMP + diphosphate.
COFACTOR: Magnesium.
ENZYME REGULATION: Phosphorylation is necessary for activity.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=2.5 uM for dUTP; Note=for both isoform 2 and isoform 3;
PATHWAY: Pyrimidine metabolism; dUMP biosynthesis; dUMP from dCTP (dUTP route): step 2/2.
SUBUNIT: Homotrimer.
INTERACTION: Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-353224, EBI-740486;
SUBCELLULAR LOCATION: Isoform 2: Nucleus.
SUBCELLULAR LOCATION: Isoform 3: Mitochondrion.
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 replication (at protein level).
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.
PTM: The initiator methionine is cleaved in isoform 2.
MISCELLANEOUS: Each trimer binds three substrate molecules. The ligands are bound between subunits, and for each substrate molecule, residues from adjacent subunits contribute to the binding interactions.
SIMILARITY: Belongs to the dUTPase family.
SEQUENCE CAUTION: Sequence=AAB71393.1; Type=Frameshift; Positions=29, 47; Sequence=AAB93866.1; Type=Frameshift; Positions=29, 47; Sequence=AAB94642.1; Type=Frameshift; Positions=29, 47;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dut/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DUT
Diseases sorted by gene-association score: cysticercosis (8), adamantinoma of long bones (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.20 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 868.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.5087-0.374 Picture PostScript Text
3' UTR -309.901295-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008180 - dUTP_pyroPase
IPR008181 - dUTP_pyroPase_sf

Pfam Domains:
PF00692 - dUTPase

SCOP Domains:
51283 - dUTPase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Q5H - X-ray MuPIT 1Q5U - X-ray MuPIT 2HQU - X-ray MuPIT 3ARA - X-ray MuPIT 3ARN - X-ray MuPIT 3EHW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P33316
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0003723 RNA binding
GO:0004170 dUTP diphosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0006226 dUMP biosynthetic process
GO:0006260 DNA replication
GO:0009117 nucleotide metabolic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0046080 dUTP metabolic process
GO:0046081 dUTP catabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK000629 - Homo sapiens cDNA FLJ20622 fis, clone KAT04833, highly similar to U31930 Human deoxyuridine nucleotidohydrolase mRNA.
BC070339 - Homo sapiens deoxyuridine triphosphatase, mRNA (cDNA clone MGC:88344 IMAGE:3998021), complete cds.
BC110377 - Homo sapiens deoxyuridine triphosphatase, mRNA (cDNA clone MGC:110970 IMAGE:5728970), complete cds.
AK298464 - Homo sapiens cDNA FLJ55818 complete cds, highly similar to Homo sapiens dUTP pyrophosphatase (DUT), transcript variant 1, mRNA.
U90223 - Human deoxyuridine triphosphate nucleotidohydrolase precursor mRNA, nuclear gene encoding mitochondrial protein, complete cds.
AB528727 - Synthetic construct DNA, clone: pF1KB6992, Homo sapiens DUT gene for deoxyuridine triphosphatase, without stop codon, in Flexi system.
KJ905194 - Synthetic construct Homo sapiens clone ccsbBroadEn_14620 DUT-like gene, encodes complete protein.
AK291515 - Homo sapiens cDNA FLJ77673 complete cds, highly similar to Homo sapiens dUTP pyrophosphatase (DUT), mRNA.
AK312122 - Homo sapiens cDNA, FLJ92404, Homo sapiens dUTP pyrophosphatase (DUT), mRNA.
U31930 - Human deoxyuridine nucleotidohydrolase mRNA, complete cds.
U62891 - Human deoxyuridine triphosphatase (DUT) mRNA, complete cds.
L11877 - Homo sapiens dUTP nucleotidohydrolase mRNA, 5' end.
M89913 - Human dUTP pyrophosphatase (hdut) mRNA, complete cds.
AB049113 - Homo sapiens DUT mRNA for dUTP pyrophosphatase, complete cds.
DQ894375 - Synthetic construct Homo sapiens clone IMAGE:100008835; FLH170025.01L; RZPDo839A1297D dUTP pyrophosphatase (DUT) gene, encodes complete protein.
DQ891191 - Synthetic construct clone IMAGE:100003821; FLH170029.01X; RZPDo839A1298D dUTP pyrophosphatase (DUT) gene, encodes complete protein.
KJ891075 - Synthetic construct Homo sapiens clone ccsbBroadEn_00469 DUT gene, encodes complete protein.
CR541781 - Homo sapiens full open reading frame cDNA clone RZPDo834G0530D for gene DUT, dUTP pyrophosphatase; complete cds, without stopcodon.
CR541720 - Homo sapiens full open reading frame cDNA clone RZPDo834B0729D for gene DUT, dUTP pyrophosphatase; complete cds, incl. stopcodon.
JD495476 - Sequence 476500 from Patent EP1572962.
JD495475 - Sequence 476499 from Patent EP1572962.
JD491424 - Sequence 472448 from Patent EP1572962.
JD519995 - Sequence 501019 from Patent EP1572962.
JD374721 - Sequence 355745 from Patent EP1572962.
JD313563 - Sequence 294587 from Patent EP1572962.
JD243743 - Sequence 224767 from Patent EP1572962.
JD115756 - Sequence 96780 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7184 - pyrimidine deoxyribonucleotides de novo biosynthesis
PWY-7211 - superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)

Reactome (by CSHL, EBI, and GO)

Protein P33316 (Reactome details) participates in the following event(s):

R-HSA-73666 dUTP + H2O => dUMP + pyrophosphate
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K650, B4DPR5, DUT_HUMAN, ENST00000331200.1, ENST00000331200.2, ENST00000331200.3, ENST00000331200.4, ENST00000331200.5, ENST00000331200.6, ENST00000331200.7, NM_001025248, O14785, P33316, Q16708, Q16860, Q6FHN1, Q6NSA3, Q96Q81, uc317tdm.1, uc317tdm.2
UCSC ID: ENST00000331200.8_6
RefSeq Accession: NM_001025248.2
Protein: P33316 (aka DUT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.