Description
Key facts
Cell type:HEK-293,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,
Mutation description:Knockout achieved by CRISPR/Cas9; X = 1 bp deletion; Frameshift: 100%
Product details:
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-DIAPH1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions--196°C, -80°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
DIAPH1 also known as Diaphanous-related formin 1 operates mainly in actin polymerization and is critical for filament formation. It weighs approximately 140 kDa. DIAPH1 expresses in a variety of tissues including heart liver and kidney making it a target of interest in multiple biological contexts. The protein plays a role in maintaining proper cytoskeletal dynamics by regulating the assembly of actin filaments.
Biological function summary
DIAPH1 functions as part of the formin family which are important in cytoskeletal organization. It interacts with other proteins to initiate and elongate actin filaments often acting within larger protein complexes that control cellular morphology and movement. DIAPH1 contributes to muscle contraction cell division and cell migration highlighting its importance in cellular structure and dynamics.
Pathways
DIAPH1 plays a significant role in the Rho GTPase signaling pathway. This pathway connects to cytoskeleton remodeling impacting cell shape and movement. DIAPH1 associates with proteins like RhoA which regulates its activity. Additionally DIAPH1 influences the Wnt signaling pathway known for its involvement in cell proliferation and differentiation.
DIAPH1 is connected to a form of sensorineural hearing loss and leukemia. Mutations in DIAPH1 can lead to autosomal dominant deafness as it affects the proper maintenance of actin structures in hair cells within the inner ear. The protein also interacts with genes linked to cancer development including those coding for p53 influencing tumorigenesis and cell cycle regulation.
