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NUDT14 Gene

protein-coding   GIFtS: 46
GCID: GC14M105639

Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif...

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 141 2     Uridine Diphosphate Glucose Pyrophosphatase2
UGPP2 3     EC 3.6.1.453
UGPPase2 3     Nucleoside Diphosphate-Linked Moiety X Motif 143
UDPG Pyrophosphatase2 3     Nudix Motif 143
UDP-Sugar Diphosphatase2     

External Ids:    HGNC: 201411   Entrez Gene: 2562812   Ensembl: ENSG000001838287   OMIM: 6092195   UniProtKB: O958483   

Export aliases for NUDT14 gene to outside databases

Previous GC identifers: GC14M099630 GC14M103610 GC14M104710 GC14M085831


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NUDT14 Gene:
UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the
production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose
1-phosphate and UMP (Yagi et al., 2003 (PubMed 12429023)).(supplied by OMIM, Mar 2008)

GeneCards Summary for NUDT14 Gene:
NUDT14 (nudix (nucleoside diphosphate linked moiety X)-type motif 14) is a protein-coding gene. Diseases associated with NUDT14 include malaria. GO annotations related to this gene include ADP-ribose diphosphatase activity and UDP-sugar diphosphatase activity.

UniProtKB/Swiss-Prot: NUD14_HUMAN, O95848
Function: Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The
physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose,
CDP-glucose, GDP-glucose and GDP-mannose




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUDT14 gene promoter:
         USF1   Elk-1   Pax-5   MyoD   USF2   USF-1:USF-2   c-Ets-1   HEN1   USF-1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUDT14 promoter sequence
   Search Chromatin IP Primers for NUDT14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUDT14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

NUDT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUDT14 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M105639:  view genomic region     (about GC identifiers)

Start:
105,639,275 bp from pter      End:
105,647,660 bp from pter
Size:
8,386 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NUD14_HUMAN, O95848 (See protein sequence)
Recommended Name: Uridine diphosphate glucose pyrophosphatase  
Size: 222 amino acids; 24118 Da
Cofactor: Magnesium
Subunit: Homodimer
Sequence caution: Sequence=AAD15563.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for NUDT14:
3Q91 (3D)    
Secondary accessions: Q86SJ8

Explore the universe of human proteins at neXtProt for NUDT14: NX_O95848

Explore proteomics data for NUDT14 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NUDT14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_803877.2  
    ENSEMBL proteins: 
     ENSP00000376349   ENSP00000447933  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NUDT: Nudix motif containing

    3 InterPro protein domains:
     IPR015797 NUDIX_hydrolase_dom-like
     IPR004385 NDP_pyrophosphatase
     IPR000086 NUDIX_hydrolase_dom

    Graphical View of Domain Structure for InterPro Entry O95848

    ProtoNet protein and cluster: O95848

    1 Blocks protein domain: IPB000086 NUDIX hydrolase

    UniProtKB/Swiss-Prot: NUD14_HUMAN, O95848
    Similarity: Belongs to the Nudix hydrolase family
    Similarity: Contains 1 nudix hydrolase domain


    NUDT14 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NUD14_HUMAN, O95848
    Function: Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The
    physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose,
    CDP-glucose, GDP-glucose and GDP-mannose
    Catalytic activity: UDP-sugar + H(2)O = UMP + alpha-D-aldose 1-phosphate
    Biophysicochemical properties: pH dependence: Optimum pH is 8.0-9.5;

         Enzyme Number (IUBMB): EC 3.6.1.451

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12620389
    GO:0008768UDP-sugar diphosphatase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0016818hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides ----
    GO:0046872metal ion binding IEA--
         
    NUDT14 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Nudt14 (no phenotypes)

    NUDT14 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUDT14
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NUD14_HUMAN, O95848: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    NUDT14 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUDT14
    Interactions:

        Search GeneGlobe Interaction Network for NUDT14

    2 Interacting proteins for NUDT14 (O958481, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARAFP103981, 3EBI-536866,EBI-365961 I2D: score=3 
    RAF1P040493I2D: score=3 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NUDT14 (NUD14)

    6 HMDB Compounds for NUDT14    About this table
    CompoundSynonyms CAS #PubMed Ids
    GDP-glucoseGDP-alpha-D-glucose (see all 7)5750-57-2--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Uridine 5'-monophosphate5'-UMP (see all 12)58-97-9--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NUDT14 gene: 
    NM_177533.4  

    Unigene Cluster for NUDT14:

    Nudix (nucleoside diphosphate linked moiety X)-type motif 14
    Hs.526432  [show with all ESTs]
    Unigene Representative Sequence: BQ068667
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550912 ENST00000392568 ENST00000551024 ENST00000550002 ENST00000339418
    ENST00000546553
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NUDT14
      QuantiFast Probe-based Assays in human, mouse, rat NUDT14

    Additional mRNA sequence: 

    AB087802.1 AK310449.1 BC041584.1 

    6 DOTS entries:

    DT.214342  DT.91854342  DT.75150758  DT.97839199  DT.100751072  DT.120762358 

    4 AceView cDNA sequences:

    NM_177533 AB087802 BC041584 AK128196 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NUDT14    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7
    SP1:                                                                  
    SP2:                          -                       -     -         
    SP3:                          -                       -               
    SP4:                          -                                       


    ECgene alternative splicing isoforms for NUDT14

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NUDT14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCCTCAGC
    NUDT14 Expression
    About this image

    NUDT14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUDT14 Protein Expression

    Genevestigator expression for NUDT14

    SOURCE GeneReport for Unigene cluster: Hs.526432
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NUDT14 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nudt141 , 5 nudix (nucleoside diphosphate linked moiety X)-type more1, 5 82.13(n)1
    82.43(a)1
      12 (61.42 cM)5
    661741  NM_025399.31  NP_079675.11 
     1129347335 
    chicken
    (Gallus gallus)
    Aves NUDT141 nudix (nucleoside diphosphate linked moiety X)-type more 59.82(n)
    55.25(a)
      423501  NM_001006490.2  NP_001006490.1 
    lizard
    (Anolis carolinensis)
    Reptilia NUDT146
    nudix (nucleoside diphosphate linked moiety X)-typ...
    55(a)
    1 ↔ 1
    1(264453-286857)
    zebrafish
    (Danio rerio)
    Actinopterygii nudt141 nudix (nucleoside diphosphate linked moiety X)-type more 62.25(n)
    56.62(a)
      559149  NM_001044888.1  NP_001038353.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG428131 CG42813 58.51(n)
    47.4(a)
      43276  NM_170323.2  NP_733202.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C50F4.161 CELE_C50F4.16 42.51(n)
    33.82(a)
      179337  NM_073060.4  NP_505461.1 


    ENSEMBL Gene Tree for NUDT14 (if available)
    TreeFam Gene Tree for NUDT14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NUDT14 (see all 218)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs795475661,2
    C,F--105638781(+) TACTGG/TGGCCC 1 -- ds50011Minor allele frequency- T:0.13EA 120
    rs1915878751,2
    --105638798(+) CAGGGC/TAGCTT 1 -- ds50010--------
    rs38257611,2
    C,F,A,H--105638931(-) GAGTTG/AGGATG 1 -- ds500126Minor allele frequency- A:0.34NS EA NA WA CSA 2341
    rs1167447191,2
    F--105638936(+) TAACTC/TCTGAG 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1812771901,2
    --105638964(+) CTCTCA/GTGAGC 1 -- ds50010--------
    rs71515941,2
    C,F,A,H--105639041(+) GTCCCA/GGACCC 1 -- ds500120Minor allele frequency- G:0.41NS EA NA WA CSA 980
    rs1172078271,2
    C,F--105639079(+) CAGCCT/CGGCCC 1 -- ds50011Minor allele frequency- C:0.04EA 120
    rs1449718151,2
    C--105639120(+) CCCCAC/TAGCAA 1 -- ds50010--------
    rs619961611,2
    C,F--105639175(+) TCGCCG/CTGTCC 1 -- ds50018Minor allele frequency- C:0.41NA WA CSA EA 368
    rs1158698811,2
    C,F--105639278(+) AGCTGG/AAGCTA 1 -- ut311Minor allele frequency- A:0.15WA 118

    HapMap Linkage Disequilibrium report for NUDT14 (105639275 - 105647660 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NUDT14 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2021n71CNV Loss21882294
    dgv2025n71CNV Loss21882294
    dgv2029n71CNV Loss21882294
    dgv2028n71CNV Loss21882294
    nsv902441CNV Loss21882294
    nsv902433CNV Loss21882294
    dgv2022n71CNV Loss21882294
    dgv2020n71CNV Loss21882294
    dgv2024n71CNV Loss21882294
    nsv902424CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUDT14
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609219    OMIM disorders: --

    1 disease for NUDT14:    About MalaCards
    malaria


    NUDT14 for disorders           About GeneDecksing


    Export disorders for NUDT14 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NUDT14 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NUDT14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression and characterization of a mammalian Nudix hydrolase-like enzyme that cleaves the pyrophosphate bond of UDP- glucose. (PubMed id 12429023)1, 2, 3, 9 Yagi T.... Pozueta-Romero J. (Biochem. J. 2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    4. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (amp 2011)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis. (PubMed id 12620389)1 Yuryev A. and Wennogle L.P. (Genomics 2003)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene. (PubMed id 10662552)2 Deng Y....Li L. (Genomics 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 256281 HGNC: 20141 AceView: NUDT14 Ensembl:ENSG00000183828 euGenes: HUgn256281
    ECgene: NUDT14 H-InvDB: NUDT14

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NUDT14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NUDT14 gene:
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