EFL1 Gene Summary [Human]
Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | EFL1 |
| Official Name | elongation factor like GTPase 1 [Source:HGNC Symbol;Acc:HGNC:25789] |
| Ensembl ID | ENSG00000140598 |
| Bio databases IDs | |
| Aliases | elongation factor like GTPase 1, ribosome assembly 1 homolog (yeast) |
| Synonyms | 4932434J20Rik, 6030468D11Rik, D7Ertd791e, EFTUD1, elongation factor like GTPase 1, FAM42A, HsT19294, RIA1, SDS2 |
| 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 EFL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Elongation Factor G, domain III
- 50S ribosome-binding GTPase
- Domain III of Elongation factor G (EF-G) and related proteins
- GTPase
- enzyme
- protein binding
- EFG_like_IV
- Elongation_Factor_C
- Domain II of Elongation factor Tu (EF-Tu)-like proteins
- small GTP-binding protein domain
- Elongation factor G C-terminus
- elongation factor G-like protein
- ribosome binding
- translation elongation factor aEF-2
- Elongation factor Tu GTP binding domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- Shwachman-Diamond syndrome type 2
- Alzheimer disease
- hereditary disorder
- motor dysfunction
- gait disturbance
- Tourette syndrome
regulates
- guanosine triphosphate
- hemoglobin
role in cell
- quantity
- assembly
- survival
- assembly in
- frequency
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GTP metabolic process
- mature ribosome assembly
- translational elongation
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTP binding
- translation elongation factor activity
- ribosome binding
- GTPase activity