EIF4H Gene Summary [Human]
This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | EIF4H |
| Official Name | eukaryotic translation initiation factor 4H [Source:HGNC Symbol;Acc:HGNC:12741] |
| Ensembl ID | ENSG00000106682 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 4H |
| Synonyms | D5Ertd355e, E430026L18Rik, Ef4h, eukaryotic translation initiation factor 4H, KIAA0038, WBSCR1, WSCR1 |
| 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 EIF4H often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nucleic acid binding translation factor
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- translation initiation factor
- protein binding
- translation regulator
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- systemic lupus erythematosus
- aortic valve calcification
- androgenic alopecia
role in cell
- expression in
- proliferation
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
- perinuclear region
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF4H gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- developmental growth
- sexual reproduction
- regulation of translational initiation
- translational initiation
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- eukaryotic translation initiation factor 4F complex
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- translation initiation factor activity
- RNA binding
- protein binding
- cadherin binding
- translation factor activity, nucleic acid binding