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    NUDT14 nudix hydrolase 14 [ Homo sapiens (human) ]

    Gene ID: 256281, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUDT14provided by HGNC
    Official Full Name
    nudix hydrolase 14provided by HGNC
    Primary source
    HGNC:HGNC:20141
    See related
    Ensembl:ENSG00000183828 MIM:609219; AllianceGenome:HGNC:20141
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UGPP; UGPPase
    Summary
    The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in fat (RPKM 8.0), kidney (RPKM 7.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NUDT14 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105172939..105181312, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99414864..99423206, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105639276..105647649, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105560015-105560637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9140 Neighboring gene long intergenic non-protein coding RNA 2298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105585919-105586418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105621328-105621926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105629549-105630296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105633835-105634334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105636983-105637819 Neighboring gene microRNA 6765 Neighboring gene jagged canonical Notch ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105658307-105659088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105662217-105662998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105662999-105663780 Neighboring gene BRF1 general transcription factor IIIB subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105714496-105715286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105716078-105716867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105740537-105741440 Neighboring gene BTB domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105749364-105749905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105750449-105750989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105752260-105753158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9144 Neighboring gene uncharacterized LOC124903409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6225 Neighboring gene phosphofurin acidic cluster sorting protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Cloning, expression and characterization of a mammalian Nudix hydrolase-like enzyme that cleaves the pyrophosphate bond of UDP-glucose. Yagi T, et al. Biochem J, 2003 Mar 1. PMID 12429023, Free PMC Article
    2. Human cytomegalovirus RL13 protein interacts with host NUDT14 protein affecting viral DNA replication. Wang G, et al. Mol Med Rep, 2016 Mar. PMID 26781650
    3. Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis. Yuryev A, et al. Genomics, 2003 Feb. PMID 12620389
    4. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    5. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the interaction between the RL13 protein and NUDT14 protein may be involved in human cytomegalovirus DNA replication.
      Title: Human cytomegalovirus RL13 protein interacts with host NUDT14 protein affecting viral DNA replication.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17491

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP-ribose diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-sugar diphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-sugar diphosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nucleoside phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
    		  
    involved_in ribose phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    uridine diphosphate glucose pyrophosphatase NUDT14
    Names
    UDP-sugar diphosphatase
    UDPG pyrophosphatase
    nudix (nucleoside diphosphate linked moiety X)-type motif 14
    NP_001305309.1
    NP_803877.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001318380.2 → NP_001305309.1  uridine diphosphate glucose pyrophosphatase NUDT14 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL512355
      UniProtKB/TrEMBL
      B3KXY7
      Related
      ENST00000551024.5
      Conserved Domains (1) summary
      TIGR00052
      Location:23 → 149
      TIGR00052; nudix-type nucleoside diphosphatase, YffH/AdpP family

    2. NM_177533.5 → NP_803877.2  uridine diphosphate glucose pyrophosphatase NUDT14 isoform 1

      See identical proteins and their annotated locations for NP_803877.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC041584, DB096906
      Consensus CDS
      CCDS10000.1
      UniProtKB/Swiss-Prot
      O95848, Q86SJ8
      Related
      ENSP00000376349.2, ENST00000392568.7
      Conserved Domains (1) summary
      TIGR00052
      Location:23 → 212
      TIGR00052; nudix-type nucleoside diphosphatase, YffH/AdpP family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105172939..105181312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99414864..99423206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95848.2 GenPept UniProtKB/Swiss-Prot:O95848

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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