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

Gene ID: 7360, updated on 5-Mar-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
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Genomic context

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Location:
2p15
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63840969..63891560)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63848515..63899116)
105.20220307 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
  • 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. Low UGP2 Expression Is Associated with Tumour Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma. Hu Q, et al. Dis Markers, 2020. PMID 32733617, Free PMC Article
  2. Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium. Durrant C, et al. Int J Mol Sci, 2020 Mar 16. PMID 32188137, Free PMC Article
  3. Identification of UGP2 as a progression marker that promotes cell growth and motility in human glioma. Zeng C, et al. J Cell Biochem, 2019 Aug. PMID 30816613
  4. Octamerization is essential for enzymatic function of human UDP-glucose pyrophosphorylase. Führing J, et al. Glycobiology, 2013 Apr. PMID 23254995
  5. The importance of conserved residues in human liver UDPglucose pyrophosphorylase. Chang HY, et al. Eur J Biochem, 1996 Mar 1. PMID 8612650

See all (73) citations in PubMed

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
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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)

Genotypes

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 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 glucose binding IEA
Inferred from Electronic Annotation
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 
enables pyrimidine ribonucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in UDP-glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in UDP-glucose metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in UDP-glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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_2023_10

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

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