EIF2AK1 Gene Summary [Human]
The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Details
| Type | Protein Coding |
| Official Symbol | EIF2AK1 |
| Official Name | eukaryotic translation initiation factor 2 alpha kinase 1 [Source:HGNC Symbol;Acc:HGNC:24921] |
| Ensembl ID | ENSG00000086232 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 2 alpha kinase 1, heme regulated initiation factor 2 alpha kinase, Heme-regulated inhibitor, hemin-controlled repressor |
| Synonyms | eukaryotic translation initiation factor 2 alpha kinase 1, eukaryotic translation initiation factor 2 α kinase 1, HCR, hHRI, HRI, LEMSPAD |
| 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 EIF2AK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- protein kinase
- eukaryotic translation initiation factor 2alpha kinase
- Protein Kinases, catalytic domain
- protein homodimerization
- protein binding
- heme binding
- Protein kinase domain
- kinase insertion domain
Pathways
Biological processes and signaling networks where the EIF2AK1 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
- anemia
- breast cancer
- hereditary disorder
- non-Hodgkin lymphoma
- non-Hodgkin disease
- leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
- X-linked torsion dystonia type 3
- erythropoietic protoporphyria
- hypomyelinating leukodystrophy type 17
- prostate cancer
role in cell
- cell death
- accumulation in
- expression in
- differentiation
- apoptosis
- proliferation
- production in
- accumulation
- activation in
- quantity
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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF2AK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organismal iron ion homeostasis
- negative regulation of cell proliferation
- protoporphyrinogen IX metabolic process
- protein autophosphorylation
- negative regulation of hemoglobin biosynthetic process
- negative regulation of translational initiation by iron
- regulation of eIF2 alpha phosphorylation by heme
- acute inflammatory response
- phagocytosis
- regulation of translational initiation by eIF2 alpha phosphorylation
- establishment of localization in cell
- macrophage differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein homodimerization activity
- protein binding
- eukaryotic translation initiation factor 2alpha kinase activity
- heme binding