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    Ugp2 UDP-glucose pyrophosphorylase 2 [ Mus musculus (house mouse) ]

    Gene ID: 216558, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ugp2provided by MGI
    Official Full Name
    UDP-glucose pyrophosphorylase 2provided by MGI
    Primary source
    MGI:MGI:2183447
    See related
    Ensembl:ENSMUSG00000001891 AllianceGenome:MGI:2183447
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    UDPGP; UGPase
    Summary
    Enables UTP:glucose-1-phosphate uridylyltransferase activity. Involved in UDP-glucuronate biosynthetic process and glycogen biosynthetic process. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; alimentary system; brain; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 83. Orthologous to human UGP2 (UDP-glucose pyrophosphorylase 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta adult (RPKM 25.7), bladder adult (RPKM 25.1) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ugp2 in Genome Data Viewer
    Location:
    11 A3.1; 11 13.89 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (21271126..21321267, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (21321126..21371267, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_28840 Neighboring gene VPS54 GARP complex subunit Neighboring gene predicted gene, 23582 Neighboring gene tudor and KH domain containing protein pseudogene Neighboring gene STARR-seq mESC enhancer starr_28841 Neighboring gene microRNA 1933 Neighboring gene STARR-positive B cell enhancer ABC_E5209 Neighboring gene STARR-seq mESC enhancer starr_28843 Neighboring gene STARR-seq mESC enhancer starr_28844 Neighboring gene STARR-positive B cell enhancer ABC_E5210 Neighboring gene heterogeneous nuclear ribonucleoprotein R pseudogene Neighboring gene STARR-seq mESC enhancer starr_28847 Neighboring gene RAB5C, member RAS oncogene family pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. UDP-glucose pyrophosphorylase 2, a regulator of glycogen synthesis and glycosylation, is critical for pancreatic cancer growth. Wolfe AL, et al. Proc Natl Acad Sci U S A, 2021 Aug 3. PMID 34330832, Free PMC Article
    2. Glycogen metabolism regulates macrophage-mediated acute inflammatory responses. Ma J, et al. Nat Commun, 2020 Apr 14. PMID 32286295, Free PMC Article
    3. Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. Pescador N, et al. PLoS One, 2010 Mar 12. PMID 20300197, Free PMC Article
    4. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Perenthaler E, et al. Acta Neuropathol, 2020 Mar. PMID 31820119, Free PMC Article
    5. Complex patterns of cell growth in the placenta in normal pregnancy and as adaptations to maternal diet restriction. Eaton M, et al. PLoS One, 2020. PMID 31917811, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    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

    • MGC38262

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D-glucose binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables D-glucose binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables UTP-monosaccharide-1-phosphate uridylyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables UTP:glucose-1-phosphate uridylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UTP:glucose-1-phosphate uridylyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables UTP:glucose-1-phosphate uridylyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pyrimidine ribonucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pyrimidine ribonucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in UDP-alpha-D-glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-alpha-D-glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP-alpha-D-glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in UDP-glucuronate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glucose 1-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose 1-phosphate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in glycogen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UTP--glucose-1-phosphate uridylyltransferase
    Names
    uridindiphosphoglucosepyrophosphorylase 2
    NP_001277563.1
    NP_647458.1

    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_001290634.1 → NP_001277563.1  UTP--glucose-1-phosphate uridylyltransferase isoform 2

      See identical proteins and their annotated locations for NP_001277563.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK033445, AL833772, BQ033764, BY273488, CJ098156
      Consensus CDS
      CCDS70148.1
      UniProtKB/TrEMBL
      Q3U548, Q8R0M2
      Related
      ENSMUSP00000056324.6, ENSMUST00000060895.6
      Conserved Domains (1) summary
      pfam01704
      Location:46 → 462
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    2. NM_139297.6 → NP_647458.1  UTP--glucose-1-phosphate uridylyltransferase isoform 1

      See identical proteins and their annotated locations for NP_647458.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK033445, AL833772, BQ033764, BY729023
      Consensus CDS
      CCDS24464.1
      UniProtKB/Swiss-Prot
      Q8R3D2, Q91ZJ5
      UniProtKB/TrEMBL
      Q8R0M2
      Related
      ENSMUSP00000099939.5, ENSMUST00000102875.11
      Conserved Domains (1) summary
      pfam01704
      Location:57 → 473
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      21271126..21321267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZJ5.3 GenPept UniProtKB/Swiss-Prot:Q91ZJ5

    Gene LinkOut

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

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