EMG1 Gene Summary [Human]
This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Details
| Type | Retained Intron |
| Official Symbol | EMG1 |
| Official Name | EMG1 N1-specific pseudouridine methyltransferase [Source:HGNC Symbol;Acc:HGNC:16912] |
| Ensembl ID | ENSG00000126749 |
| Bio databases IDs | |
| Aliases | EMG1 N1-specific pseudouridine methyltransferase |
| Synonyms | C2F, EMG1 N1-specific pseudouridine methyltransferase, Grcc2f, LOC105369636, NEP1, RP3 461F173 |
| 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 EMG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- rRNA methyltransferase
- SPOUT superfamily of SAM-dependent RNA methyltransferases
- EMG1/NEP1 methyltransferase
- enzyme
- protein binding
- identical protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- pre-ribosome
- Cytoplasm
- chromosome
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EMG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- rRNA base methylation
- ribosomal small subunit biogenesis
- blastocyst development
- rRNA processing
- nucleologenesis
Cellular Component
Where in the cell the gene product is active
- small-subunit processome
- nucleus
- cytoplasm
- chromosome
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- RNA binding
- rRNA (pseudouridine) methyltransferase activity
- rRNA binding