PEK/PERK Antibody – Rabbit

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. 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, Jan 2010]

PERK: a transmembrane protein kinase of the PEK family resident in the endoplasmic reticulum (ER) membrane and is linked to insulin processing. Couples ER stress to translation inhibition. Stress induces autophosphorylation of its kinase domain and increases its activity. Phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (eIF2alpha), leading to its inactivation and thus to a rapid reduction of translational initiation and repression of global protein synthesis. A critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin d1. Forms dimers with BiP in resting cells. Oligomerizes in ER-stressed cells. LOF mutations cause Wolcott-Rallison syndrome (WRS), characterized by insulin-dependent diabetes in early infancy and, later, multiple system abnormalities. Neuronal death in Alzheimer?s and Parkinson?s diseases is thought to be due to ER stress and has been weakly linked to PEK.

Protein type: Translation; Protein kinase, Other; Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Membrane protein, integral; EC 2.7.11.1; Other group; PEK family; PEK subfamily

Chromosomal Location of Human Ortholog: 2p12

Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; cytoplasm; integral to endoplasmic reticulum membrane

Molecular Function: protein serine/threonine kinase activity; identical protein binding; protein binding; enzyme binding; protein phosphatase binding; ATP binding; eukaryotic translation initiation factor 2alpha kinase activity; protein kinase activity

Biological Process: lactation; fat cell differentiation; translation; positive regulation of protein binding; protein amino acid autophosphorylation; protein amino acid phosphorylation; bone mineralization; positive regulation of transcription from RNA polymerase I promoter; cellular response to glucose starvation; regulation of fatty acid metabolic process; angiogenesis; skeletal development; ER overload response; protein homooligomerization; endoplasmic reticulum organization and biogenesis; caspase activation; ossification; negative regulation of myelination; unfolded protein response; calcium-mediated signaling; chondrocyte development; SREBP-mediated signaling pathway; endocrine pancreas development; peptidyl-serine phosphorylation; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; insulin-like growth factor receptor signaling pathway; insulin secretion; negative regulation of translation; negative regulation of translation initiation in response to stress; negative regulation of apoptosis

Disease: Epiphyseal Dysplasia, Multiple, With Early-onset Diabetes Mellitus