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    UGP2 UDP-glucose pyrophosphorylase 2 [ Homo sapiens (human) ]

    Gene ID: 7360, updated on 14-Nov-2024

    Summary

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    Official Symbol
    UGP2provided by HGNC
    Official Full Name
    UDP-glucose pyrophosphorylase 2provided by HGNC
    Primary source
    HGNC:HGNC:12527
    See related
    Ensembl:ENSG00000169764 MIM:191760; AllianceGenome:HGNC:12527
    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
    UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379
    Summary
    The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 142.1), fat (RPKM 136.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UGP2 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63840969..63891560)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63848515..63899116)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64068103..64118694)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat containing planar cell polarity effector Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63973523-63974174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63992494-63993309 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene NANOG hESC enhancer GRCh37_chr2:64007601-64008102 Neighboring gene CS pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15879 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64074440-64075220 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076781-64077560 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076001-64076780 Neighboring gene Sharpr-MPRA regulatory region 3928 Neighboring gene Sharpr-MPRA regulatory region 742 Neighboring gene VPS54 subunit of GARP complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11545 Neighboring gene uncharacterized LOC124907774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11546 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64297588-64298088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303262-64303843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303844-64304424

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UDP-glucose pyrophosphorylase 2, a regulator of glycogen synthesis and glycosylation, is critical for pancreatic cancer growth.
      Title: UDP-glucose pyrophosphorylase 2, a regulator of glycogen synthesis and glycosylation, is critical for pancreatic cancer growth.
    2. Low UGP2 Expression Is Associated with Tumour Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma.
      Title: Low UGP2 Expression Is Associated with Tumour Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma.
    3. 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.
      Title: 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.
    4. Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.
      Title: Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.
    5. Identification of UGP2 as a progression marker that promotes cell growth and motility in human glioma.
      Title: Identification of UGP2 as a progression marker that promotes cell growth and motility in human glioma.
    6. High UGP2 expression is associated with malignant pancreatic lesions.
      Title: Expression of UGP2 and CFL1 expression levels in benign and malignant pancreatic lesions and their clinicopathological significance.
    7. This study provides clear evidence that the octameric state is a prerequisite for activity in the uridine diphosphate-glucose pyrophosphorylase.
      Title: Octamerization is essential for enzymatic function of human UDP-glucose pyrophosphorylase.
    8. The crystal structure was determined and shown to form octamers through end-to-end and side-by-side interactions. Mutagenesis studies showed that both dissociation of octamers and mutations of the latch loop can significantly affect the activity.
      Title: The crystal structure of human UDP-glucose pyrophosphorylase reveals a latch effect that influences enzymatic activity.
    9. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
      Title: Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia.
    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

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 83
    MedGen: C5231487 OMIM: 618744 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UTP:glucose-1-phosphate uridylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UTP:glucose-1-phosphate uridylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UTP:glucose-1-phosphate uridylyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    enables pyrimidine ribonucleotide binding IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UDP-alpha-D-glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in UDP-glucuronate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glucose 1-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    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 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
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    UTP--glucose-1-phosphate uridylyltransferase
    Names
    UDP-glucose diphosphorylase
    UDP-glucose pyrophosphorylase 1
    UGPase 2
    UTP--glucose-1-phosphate uridylyltransferase 2
    UTP-glucose-1-phosphate uridyltransferase
    Uridyl diphosphate glucose pyrophosphorylase-1
    testis tissue sperm-binding protein Li 58p
    uridyl diphosphate glucose pyrophosphorylase 2
    NP_001001521.1
    NP_001364453.1
    NP_001364454.1
    NP_001364455.1
    NP_001364456.1
    NP_001364457.1
    NP_001364458.1
    NP_006750.3
    XP_024308888.1

    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_001001521.2 → NP_001001521.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

      See identical proteins and their annotated locations for NP_001001521.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC092588, AC114748
      Consensus CDS
      CCDS42690.1
      UniProtKB/TrEMBL
      A0A140VKE1, B2RAN1
      Related
      ENSP00000377939.2, ENST00000394417.7
      Conserved Domains (1) summary
      pfam01704
      Location:44 → 462
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    2. NM_001377524.1 → NP_001364453.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Consensus CDS
      CCDS42690.1
      UniProtKB/TrEMBL
      A0A140VKE1, B2RAN1
      Conserved Domains (1) summary
      pfam01704
      Location:44 → 462
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    3. NM_001377525.1 → NP_001364454.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Consensus CDS
      CCDS42690.1
      UniProtKB/TrEMBL
      A0A140VKE1, B2RAN1
      Related
      ENSP00000420793.2, ENST00000467648.6
      Conserved Domains (1) summary
      pfam01704
      Location:44 → 462
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    4. NM_001377526.1 → NP_001364455.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Conserved Domains (1) summary
      pfam01704
      Location:1 → 353
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    5. NM_001377527.1 → NP_001364456.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Conserved Domains (1) summary
      pfam01704
      Location:1 → 353
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    6. NM_001377528.1 → NP_001364457.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Conserved Domains (1) summary
      pfam01704
      Location:1 → 353
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    7. NM_001377529.1 → NP_001364458.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

      Status: REVIEWED

      Source sequence(s)
      AC092588, AC114748
      Conserved Domains (1) summary
      pfam01704
      Location:1 → 353
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    8. NM_006759.4 → NP_006750.3  UTP--glucose-1-phosphate uridylyltransferase isoform a

      See identical proteins and their annotated locations for NP_006750.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC092588, AC114748
      Consensus CDS
      CCDS1875.1
      UniProtKB/Swiss-Prot
      Q07131, Q0P6K2, Q16851, Q86Y81, Q9BU15
      UniProtKB/TrEMBL
      B2RAN1
      Related
      ENSP00000338703.5, ENST00000337130.10
      Conserved Domains (1) summary
      pfam01704
      Location:55 → 473
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      63840969..63891560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453120.2 → XP_024308888.1  UTP--glucose-1-phosphate uridylyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A140VKE1, B2RAN1
      Related
      ENSP00000411803.2, ENST00000445915.6
      Conserved Domains (1) summary
      pfam01704
      Location:44 → 462
      UDPGP; UTP--glucose-1-phosphate uridylyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      63848515..63899116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16851.5 GenPept UniProtKB/Swiss-Prot:Q16851

    Gene LinkOut

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

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