UGCG Gene Summary [Human]
This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | UGCG |
| Official Name | UDP-glucose ceramide glucosyltransferase [Source:HGNC Symbol;Acc:HGNC:12524] |
| Ensembl ID | ENSG00000148154 |
| Bio databases IDs | |
| Aliases | UDP-glucose ceramide glucosyltransferase, glucosylceramide synthase, ceramide glucosyltransferase |
| Synonyms | AU043821, C80537, ceramide glucosyltransferase, CERAMIDE TRANSFERASE, Cgt, Epcs21, GCS, GlcCerS, GLCT1, Glucosylceramide Synthase, Glucosylceramide Synthetase, GSL synthase, UDP-glucose ceramide glucosyltransferase, UDP-glucose ceramide glucosyltransferase-like, Udp-glucose:ceramide glycosyltransferase, Ugcgl |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UGCG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl transferase family 2
- Glycosyl transferase family group 2
- ceramide glucosyltransferase
- hopanoid biosynthesis associated glycosyl transferase protein HpnI
- enzyme
- protein binding
- Glycosyltransferase like family 2
- glycosyltransferase family A
- Glycosyl transferase family 21
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- skin barrier defect
- Wegener granulomatosis
- Gaucher disease type I
- Niemann-Pick disease type C
- uterine leiomyoma
- leiomyomatosis
- late onset glycogen storage disease type II
- Fabry disease
- chronic hyperchloremic metabolic acidosis
role in cell
- differentiation
- proliferation
- apoptosis
- cell death
- expression in
- production in
- quantity
- activation in
- phosphorylation in
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UGCG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte differentiation
- glucosylceramide biosynthetic process
- leptin-mediated signaling pathway
- epidermis development
- cell differentiation
- protein lipidation
- neuron development
- glycosphingolipid biosynthetic process
- regulation of signal transduction
- establishment of skin barrier
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ceramide glucosyltransferase activity