EIF2B1 Gene Summary [Human]
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | EIF2B1 |
| Official Name | eukaryotic translation initiation factor 2B subunit alpha [Source:HGNC Symbol;Acc:HGNC:3257] |
| Ensembl ID | ENSG00000111361 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 2B subunit alpha |
| Synonyms | D5Ertd406e, eIF-2a, EIF2B, EIF2BA, EIF2Balpha, eukaryotic translation initiation factor 2B subunit alpha, eukaryotic translation initiation factor 2B, subunit alpha, eukaryotic translation initiation factor 2B subunit α, eukaryotic translation initiation factor 2B, subunit α, VWM1 |
| 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 EIF2B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP binding
- ribose 1,5-bisphosphate isomerase
- GDP binding
- guanyl-nucleotide exchange factor
- Initiation factor 2 subunit family
- translation initiation factor
- protein binding
- identical protein binding
- translation regulator
Pathways
Biological processes and signaling networks where the EIF2B1 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
- leukoencephalopathy with vanishing white matter type 1
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- leukoencephalopathy with vanishing white matter
role in cell
- expression in
- autophagy by
- cell death
- growth
- development
- synthesis in
- survival
- biogenesis
- biogenesis in
- translation in
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
- cellular membrane
- Plasma Membrane
- cytosol
- sensory axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF2B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligodendrocyte development
- response to heat
- response to glucose stimulus
- cytoplasmic translational initiation
- translational initiation
- response to peptide hormone stimulus
- T cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- eukaryotic translation initiation factor 2B complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- translation initiation factor activity
- identical protein binding
- protein binding
- guanyl-nucleotide exchange factor activity