Gene Details: UGP2
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General Information
Gene Name: UGP2 (UTP--glucose-1-phosphate uridylyltransferase)
Synonym: UGP1
Short Names:
Alternative Names: UDP-glucose pyrophosphorylase;
Notes:
- UTP-glucose-1-phosphate uridinylyl transferase creates UDP-glucose from UTP and glucose-1-phosphate.
- Deficient activity of this enzyme in the brain causes epilleptic encephalopathy.
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human UGP2. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human UGP2, or UDP-glucose pyrophosphorylase 2, is an enzyme that catalyzes the reversible formation of UDP-glucose from glucose-1-phosphate and UTP (uridine triphosphate). UDP-glucose is a crucial glycosyl donor in various biosynthetic pathways, including glycogen synthesis and the production of glycoproteins, glycolipids, and proteoglycans. UGP2 plays a key role in carbohydrate metabolism and the regulation of glucose storage and utilization. ### Reaction Pathways UGP2 operates in the glycogen synthesis pathway and other glycosylation processes. It catalyzes the reaction that produces UDP-glucose, a vital precursor for glycogen biosynthesis, by transferring a uridylyl group from UTP to glucose-1-phosphate. UDP-glucose is also a substrate for enzymes involved in the synthesis of glycoproteins and glycolipids, contributing to the formation of cellular membranes, extracellular matrix, and signaling molecules. The activity of UGP2 is essential for maintaining energy homeostasis and the structural integrity of cells. ### Location UGP2 is predominantly localized in the cytoplasm, where it participates in carbohydrate metabolism and glycosylation processes. The cytoplasmic localization of UGP2 allows it to interact efficiently with substrates involved in glycogen synthesis and other pathways requiring UDP-glucose. This strategic positioning within the cell is crucial for the enzyme’s role in regulating glucose availability and ensuring the proper synthesis of glycoconjugates. ### Diseases Alterations in UGP2 activity can impact carbohydrate metabolism and glycosylation, potentially contributing to metabolic disorders and diseases related to improper glycogen storage. While direct links between UGP2 mutations and specific diseases are still being explored, disruptions in its function could affect glucose metabolism, leading to conditions such as glycogen storage diseases. Additionally, since UDP-glucose is vital for glycoprotein and glycolipid synthesis, UGP2 dysfunction could have broader implications for cell signaling, immune function, and structural integrity, potentially contributing to a variety of metabolic and developmental disorders. Understanding UGP2's role is critical for developing therapeutic strategies for diseases involving carbohydrate metabolism and glycosylation defects.
Catalytic Activity

Reaction and Disease Links
EC # (IUBMB):
2.7.7.9
Brenda:
2.7.7.9
KEGG: 7360
Rhea:
19889
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
HNRNPK | 2.189597 |
SON | 2.184998 |
RBM39 | 2.183680 |
PCBP2 | 2.101120 |
SRSF3 | 2.099476 |
SUMO2 | 2.092836 |
PCBP1 | 2.068755 |
FUS | 2.065696 |
XRCC5 | 2.025292 |
SFPQ | 2.023216 |
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