Aliases for EIF2AK3 Gene
External Ids for EIF2AK3 Gene
Previous GeneCards Identifiers for EIF2AK3 Gene
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]
GeneCards Summary for EIF2AK3 Gene
EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3) is a Protein Coding gene. Diseases associated with EIF2AK3 include Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus and Permanent Neonatal Diabetes Mellitus. Among its related pathways are Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is EIF2AK4.
UniProtKB/Swiss-Prot Summary for EIF2AK3 Gene
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions. Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as unfolded protein response (UPR) and low amino acid availability. EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function.
PKR-like ER kinase (PERK, EIF2AK3) is an elF2alpha kinase that inhibits protein translation. PERK is a type one endoplasmic reticulum (ER) membrane protein which is involved in both the integrated stress response (ISR) and unfolded protein response (UPR).