Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon 2 and 2 bp insertion in exon 2
Product details:
Although we aim to provide customers with a homozygous clone, feasibility will be dependent on the biology of the protein. Should only heterozygous edits be achieved, you will be notified of the outcome and be asked to confirm whether the cell line is acceptable. All clones will be accompanied with DNA sequencing data, and the mutation description.
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-EIF2AK1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Heme-regulated inhibitor (HRI) also known as eIF2α kinase 1 plays an important role in controlling protein synthesis in response to heme availability. It weighs approximately 80 kDa and is primarily expressed in erythroid cells in the bone marrow where hemoglobin synthesis occurs. HRI works as a sensor of heme levels and regulates the translation initiation process by phosphorylating the eukaryotic translation initiation factor 2 alpha (eIF2α) which reduces general protein synthesis under heme-deficient conditions.
Biological function summary
Heme-regulated inhibitor functions as an important part of the cellular stress response. It is not a standalone entity and often forms part of larger signaling networks as it interacts with eIF2α. In addition to its role in erythroid cells HRI responds to various stressors including oxidative stress and heat shock by modulating protein production which contributes to cellular adaptation mechanisms. Its activity helps maintain homeostasis by reducing protein synthesis when cells face adverse conditions.
Pathways
HRI significantly influences the integrated stress response (ISR) pathway and iron metabolism. HRI's activation through phosphorylation of eIF2α links it to related proteins such as activating transcription factor 4 (ATF4) which assists in adaptive gene expression changes under stress conditions. This action highlights HRI's involvement in pathways that regulate translation under various stress conditions maintaining proper cellular function and response to changes in environmental and internal conditions.
HRI has a pivotal involvement in conditions like anemia and beta-thalassemia. An imbalance in HRI activity can lead to inadequate or excessive protein synthesis contributing to disease states. It connects to alpha-globin and beta-globin proteins through its regulation of hemoglobin synthesis in erythroid cells. In iron deficiency anemia HRI activation prevents excess protein synthesis that would otherwise require unavailable heme while its dysfunction might exacerbate issues in beta-thalassemia by impairing stress response and erythropoiesis.
