Gene Details: UXS1
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General Information
Gene Name: UXS1 (UDP-glucuronic acid decarboxylase 1)
Synonym:
Short Names:
Alternative Names: UDP-glucuronate decarboxylase 1;
Notes:
- UDP-Xylose synthase creates UDP-Xylose from UDP-glucuronic acid.
- Important for the synthesis of dystroglycan, O-linked glucose related glycans, and Glycosaminoglycans.
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human UXS1 . Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human UXS1, or UDP-glucuronate decarboxylase 1, is an enzyme that plays a crucial role in the biosynthesis of nucleotide sugars, specifically UDP-xylose. UXS1 catalyzes the conversion of UDP-glucuronic acid to UDP-xylose, which is a critical precursor for the synthesis of glycosaminoglycans (GAGs) and proteoglycans. These molecules are essential for the formation and maintenance of the extracellular matrix, influencing cell signaling, tissue development, and structural integrity. ### Reaction Pathways UXS1 functions within the nucleotide sugar biosynthesis pathway, where it facilitates the decarboxylation of UDP-glucuronic acid to produce UDP-xylose. UDP-xylose is then utilized in the assembly of GAGs such as heparan sulfate and chondroitin sulfate, as well as in the synthesis of proteoglycans. These macromolecules play vital roles in various biological processes, including cellular adhesion, migration, and communication. The activity of UXS1 is therefore essential for the proper construction of the extracellular matrix and for maintaining normal tissue function. ### Location UXS1 is predominantly localized in the cytoplasm, where it carries out its role in nucleotide sugar metabolism. The cytoplasmic localization of UXS1 allows it to efficiently interact with its substrates and products, ensuring a steady supply of UDP-xylose for subsequent glycosylation processes that occur in the Golgi apparatus. This spatial arrangement is critical for the proper flow of materials needed for glycan and proteoglycan synthesis. ### Diseases Mutations or deficiencies in the UXS1 gene can disrupt the production of UDP-xylose, leading to defects in GAG and proteoglycan synthesis. These disruptions can result in various developmental disorders, including those affecting skeletal development and connective tissue integrity. For example, impaired UXS1 function may contribute to conditions characterized by abnormal bone growth or extracellular matrix defects. Additionally, since proteoglycans are involved in cell signaling, alterations in UXS1 activity could impact processes like cell growth and wound healing, potentially leading to broader pathological conditions. Understanding UXS1's role is essential for developing therapeutic strategies for diseases linked to extracellular matrix abnormalities.
Catalytic Activity

Reaction and Disease Links
EC # (IUBMB):
4.1.1.35
OMIM:
609749
KEGG: 80146
Rhea:
23916
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
TCF25 | 0.704635 |
UBE2I | 0.704604 |
SON | 0.692187 |
RBM39 | 0.688990 |
YY1 | 0.684870 |
XRCC5 | 0.684437 |
SSU72 | 0.683517 |
HNRNPK | 0.677315 |
FUS | 0.674736 |
NCOR1 | 0.671107 |
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