Description
Key facts
Cell type:K-562,
Species or organism:Human,
Tissue:Blood,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Sanger sequencing of this cell line reveals two indels with equal contribution: -34bp and -36bp from the beginning of exon 2, spanning across the intron/exon border (clone 67). Knockout.,
Disease:Chronic Myelogenous Leukemia
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 and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-GATA1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
GATA1 also known as GATA-binding factor 1 is a transcription factor weighing approximately 42 kDa. This protein binds to the DNA sequence "GATA" within the regulatory regions of target genes to control their expression. GATA1 is mostly expressed in hematopoietic cells especially erythroid cells megakaryocytes eosinophils and mast cells. Its specific expression pattern allows it to regulate genes essential for the development and function of these cell types.
Biological function summary
GATA1 regulates gene expression and is essential for erythroid and megakaryocyte differentiation. GATA1 belongs to a family of GATA transcription factors and can form regulatory complexes with other proteins such as FOG1 (Friend of GATA1) and TAL1. These complexes facilitate the binding of GATA1 to DNA enhancing its transcriptional activity on target gene sets necessary for blood cell maturation and function.
Pathways
GATA1 participates in the erythropoiesis and megakaryopoiesis pathways. It directly regulates several genes and coordinates signals with factors like GATA2 and RUNX1 which are other key proteins involved in these pathways. Through these interactions GATA1 ensures the correct development of red blood cells and platelets maintaining hematopoietic homeostasis in the organism.
Abnormal GATA1 function is linked to blood-related disorders. Mutations or dysregulations of GATA1 can lead to diseases such as X-linked thrombocytopenia with dyserythropoietic anemia which involves low platelet count and ineffective red blood cell production. Moreover GATA1 mutations are associated with certain leukemias particularly acute megakaryoblastic leukemia. GATA1's dysfunction in these diseases often occurs in conjunction with abnormalities in related proteins like GATA2 influencing disease progression and phenotype.
