GLCE Gene: Glucuronic Acid Epimerase - Function, Disease Associations, and Expression
Comprehensive biomedical overview of GLCE (glucuronic acid epimerase), including genomic context, protein function, expression profiles, and clinical significance.
Gene Information Card
| Symbol | GLCE |
|---|---|
| Full Name | Glucuronic Acid Epimerase |
| Gene Type | Protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 26035 ncbi.nlm.nih.gov/gene/26035 |
| Ensembl ID | ENSG00000163399 |
| UniProt ID | O94923 |
| OMIM ID | 605844 |
| HGNC ID | 4315 |
| Aliases | HSEPI, SART2 |
Description
The GLCE gene encodes glucuronic acid epimerase, an enzyme that catalyzes the conversion of D-glucuronic acid to L-iduronic acid residues during heparan sulfate biosynthesis. This epimerization is a critical step in generating the structural diversity of heparan sulfate chains, which are involved in various biological processes including cell signaling, growth factor binding, and cell adhesion. GLCE is widely expressed in human tissues and has been implicated in several diseases, including cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GLCE expression affects heparan sulfate structure, influencing tumor growth and metastasis. | Multiple studies (e.g., COSMIC, PubMed) show differential expression in tumors. |
| Developmental disorders | Mutations affecting enzyme activity may disrupt heparan sulfate function during development. | Rare case reports and functional studies (OMIM). |
| Infectious diseases | Heparan sulfate modifications by GLCE can influence viral entry (e.g., herpes simplex). | Experimental evidence in cell models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.4 | Low |
| Lung | 7.8 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.3 | High expression |
| A549 (lung) | 9.8 | Moderate |
| MCF7 (breast) | 6.2 | Low |
| K562 (leukemia) | 4.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Potential impact on enzyme activity (in silico prediction) |
| c.567delC (p.Leu189fs) | Frameshift | Rare | Loss of function (predicted) |
| c.890C>T (p.Pro297Leu) | Missense | 0.005% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of enzymatic activity, affecting heparan sulfate synthesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression may occur in some cancers but not due to mutations.
Dominant Negative (DN)
No known dominant-negative mutations; GLCE functions as a monomer, so haploinsufficiency may be relevant.
View complete mutation data：
Gene Ontology (GO)
| • glucuronyl C5-epimerase activity | • heparan sulfate proteoglycan biosynthetic process |
| • endoplasmic reticulum lumen | • metal ion binding |
Pathways
• Heparan sulfate biosynthesis
• Glycosaminoglycan metabolism
• Proteoglycan synthesis
Protein Summary
The GLCE protein is a type II transmembrane enzyme localized to the Golgi apparatus. It catalyzes the epimerization of D-glucuronic acid to L-iduronic acid in heparan sulfate chains. This modification is essential for the binding of heparan sulfate to various ligands, including growth factors and cytokines. The protein consists of a short N-terminal cytoplasmic domain, a transmembrane region, and a large luminal catalytic domain. Its activity is regulated by pH and metal ions, and it interacts with other enzymes in the heparan sulfate synthesis pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLCE Knockout HEK293 Cell Line | EDJ-KQ3056 | Human | 26035 | Details Get a Quote |
| GLCE Knockout A-549 Cell Line | EDJ-KQ24313 | Human | 26035 | Details Get a Quote |
| GLCE Knockout HCT 116 Cell Line | EDJ-KQ24314 | Human | 26035 | Details Get a Quote |
| GLCE Knockout HeLa Cell Line | EDJ-KQ24315 | Human | 26035 | Details Get a Quote |
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