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DUT deoxyuridine triphosphatase [ Homo sapiens (human) ]

Gene ID: 1854, updated on 3-Jan-2019

Summary

Official Symbol
DUTprovided by HGNC
Official Full Name
deoxyuridine triphosphataseprovided by HGNC
Primary source
HGNC:HGNC:3078
See related
Ensembl:ENSG00000128951 MIM:601266
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dUTPase
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]
Expression
Ubiquitous expression in bone marrow (RPKM 16.5), lymph node (RPKM 14.4) and 25 other tissues See more
Orthologs

Genomic context

See DUT in Genome Data Viewer
Location:
15q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (48329991..48343373)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48623215..48635570)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 1 Neighboring gene uncharacterized LOC107984758 Neighboring gene uncharacterized LOC107984755 Neighboring gene uncharacterized LOC107984757 Neighboring gene fibrillin 1 Neighboring gene uncharacterized LOC105370809

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human deoxyuridine triphosphatase (DUT) at amino acid residues 231-232 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
dUTP diphosphatase activity EXP
Inferred from Experiment
more info
PubMed 
dUTP diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA replication TAS
Traceable Author Statement
more info
PubMed 
dUMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dUMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
dUTP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial
Names
dUTP diphosphatase
dUTP nucleotidohydrolase
dUTP pyrophosphatase
NP_001020419.1
NP_001020420.1
NP_001317215.1
NP_001939.1
XP_016877477.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029497.1 RefSeqGene

    Range
    5001..16950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025248.2NP_001020419.1  deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001020419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as DUT-M, represents the longest transcript. It encodes the longest isoform (1), which includes a mitochondrial targeting sequence.
    Source sequence(s)
    AC023355, BC070339, BF697257, BI257870
    Consensus CDS
    CCDS32231.1
    UniProtKB/Swiss-Prot
    P33316
    Related
    ENSP00000370376.2, ENST00000331200.7
    Conserved Domains (1) summary
    TIGR00576
    Location:114251
    dut; deoxyuridine 5'-triphosphate nucleotidohydrolase (dut)
  2. NM_001025249.1NP_001020420.1  deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001020420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus that lacks the mitochondrial targeting sequence, compared to isoform 1.
    Source sequence(s)
    AC023355, AK000629, BG505144, BI257870
    Consensus CDS
    CCDS45256.1
    UniProtKB/Swiss-Prot
    P33316
    UniProtKB/TrEMBL
    A0A0C4DGL3
    Related
    ENSP00000453717.1, ENST00000558813.5
    Conserved Domains (1) summary
    cl00493
    Location:3139
    trimeric_dUTPase; Trimeric dUTP diphosphatases
  3. NM_001330286.1NP_001317215.1  deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. It encodes isoform 4, which has a shorter, distinct N-terminus that lacks the mitochondrial targeting sequence, compared to isoform 1.
    Source sequence(s)
    AB049113, AC023355, BP208983
    Consensus CDS
    CCDS81879.1
    UniProtKB/Swiss-Prot
    P33316
    UniProtKB/TrEMBL
    H0YNW5
    Related
    ENSP00000454183.1, ENST00000559416.5
    Conserved Domains (1) summary
    cl00493
    Location:29165
    trimeric_dUTPase; Trimeric dUTP diphosphatases
  4. NM_001948.3NP_001939.1  deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as DUT-N, uses a different 5' exon, compared to variant 1. It encodes isoform 2, which has a shorter, distinct N-terminus that lacks the mitochondrial targeting sequence, compared to isoform 1.
    Source sequence(s)
    AB049113, AC023355, BG532018, BI257870
    Consensus CDS
    CCDS45255.1
    UniProtKB/Swiss-Prot
    P33316
    Related
    ENSP00000405160.2, ENST00000455976.6
    Conserved Domains (1) summary
    cl00493
    Location:26162
    trimeric_dUTPase; Trimeric dUTP diphosphatases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    48329991..48343373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021988.1XP_016877477.1  deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial isoform X1

RNA

  1. XR_001751125.2 RNA Sequence

  2. XR_931760.1 RNA Sequence

    Related
    ENST00000558978.5
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