UGT8 Gene Summary [Human]
The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | UGT8 |
| Official Name | UDP glycosyltransferase 8 [Source:HGNC Symbol;Acc:HGNC:12555] |
| Ensembl ID | ENSG00000174607 |
| Bio databases IDs | |
| Aliases | UDP glycosyltransferase 8, 2-hydroxyacylsphingosine 1-beta-galactosyltransferase |
| Synonyms | Cerebroside Synthase, CGalT, CGT, mCerGT, UDP galactosyltransferase 8A, UDP glycosyltransferase 8, UGT4, Ugt8a |
| 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 UGT8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycosyltransferase family 1 and related proteins with GTB topology
- ceramide glucosyltransferase
- UDP-galactose-glucosylceramide beta-1,4-galactosyltransferase
- glycosyltransferase, MGT family
- 2-hydroxyacylsphingosine 1-beta-galactosyltransferase
- enzyme
- UDP-glucoronosyl and UDP-glucosyl transferase
Pathways
Biological processes and signaling networks where the UGT8 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung squamous cell carcinoma
- squamous cell lung cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- growth failure
- ataxia
- Huntington disease
- tremor
- TCF3-PBX1 fusion positive acute lymphoblastic leukemia
- lung neuroendocrine carcinoma
role in cell
- apoptosis
- myelination
- degeneration
- morphogenesis
- differentiation
- organization
- assembly
- abnormal morphology
- spermatogenesis
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UGT8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- cytoskeleton organization
- paranodal junction assembly
- neuron projection morphogenesis
- peripheral nervous system development
- galactosylceramide biosynthetic process
- protein localization to paranode region of axon
- response to immobilization stress
- glycosphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity
- 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity