RFNG Gene Summary [Human]
Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway and positive regulation of protein binding activity. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | RFNG |
| Official Name | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Source:HGNC Symbol;Acc:HGNC:9974] |
| Ensembl ID | ENSG00000169733 |
| Bio databases IDs | |
| Aliases | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Synonyms | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, RFNG O-fucosylpeptide 3-β-N-acetylglucosaminyltransferase |
| 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 RFNG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acetylglucosaminyltransferase
- galactosyltransferase
- enzyme
Pathways
Biological processes and signaling networks where the RFNG 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
- prostate cancer
- syndactyly
- organismal death
- aortic valve calcification
- oligodactyly
role in cell
- expression in
- generation
- frequency
- proliferation
- binding
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
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFNG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of Notch signaling pathway
- nervous system development
- cell differentiation
- pattern specification process
- positive regulation of Notch signaling pathway
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- Golgi membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity