EIF2AK3 Gene Summary [Human]
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | EIF2AK3 |
| Official Name | eukaryotic translation initiation factor 2 alpha kinase 3 [Source:HGNC Symbol;Acc:HGNC:3255] |
| Ensembl ID | ENSG00000172071 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 2 alpha kinase 3, PRKR-like endoplasmic reticulum kinase, pancreatic eIF-2alpha kinase, PKR-like ER kinase |
| Synonyms | eukaryotic translation initiation factor 2 alpha kinase 3, eukaryotic translation initiation factor 2 α kinase 3, PEK, PERK, WRS |
| 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 EIF2AK3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase
- eukaryotic translation initiation factor 2alpha kinase
- protein kinase
- protein phosphatase binding
- heat shock protein binding
- enzyme binding
- protein binding
- protein-tyrosine kinase
- identical protein binding
- translation regulator
- kinase
- kinase domain
- cytoplasmic domain
- lumenal domain
- luminal/IRE1-like
Pathways
Biological processes and signaling networks where the EIF2AK3 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
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
- neoplasia
- diabetes mellitus
- preeclampsia
- demyelination
- progressive supranuclear palsy
- Wolcott-Rallison syndrome
- Alzheimer disease
- non-insulin-dependent diabetes mellitus
- acute lung injury
role in cell
- expression in
- production in
- phosphorylation in
- induction in
- cell death
- apoptosis
- proliferation
- number
- growth
- degradation 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
- endoplasmic reticulum mitochondria contact site
- perinuclear region
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF2AK3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of translational initiation
- negative regulation of translation in response to stress
- cellular response to amino acid starvation
- chondrocyte development
- protein autophosphorylation
- protein phosphorylation
- ER overload response
- positive regulation of transcription from RNA polymerase I promoter
- skeletal system development
- angiogenesis
- ossification
- endoplasmic reticulum unfolded protein response
- regulation of translational initiation by eIF2 alpha phosphorylation
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- calcium-mediated signaling
- negative regulation of translation
- endocrine pancreas development
- positive regulation vascular endothelial growth factor production
- positive regulation of protein localization to nucleus
- bone mineralization
- insulin-like growth factor receptor signaling pathway
- regulation of eIF2 alpha phosphorylation by endoplasmic reticulum stress
- endoplasmic reticulum organization
- cellular response to glucose starvation
- positive regulation of gene expression
- negative regulation of translational initiation in response to stress
- peptidyl-serine phosphorylation
- cellular response to cold
- response to endoplasmic reticulum stress
- negative regulation of myelination
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein binding
- protein phosphatase binding
- Hsp90 protein binding
- eukaryotic translation initiation factor 2alpha kinase activity
- protein kinase activity
- protein serine/threonine kinase activity
- enzyme binding