Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp deletion in exon 2,
Disease:Adenocarcinoma
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-ATP13A3, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, 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.
ATP13A3 also known as P5B-type ATPase is a member of the P5-type ATPase family. This protein has an approximate mass of 146 kDa. It is believed to function as a transporter moving cations across the membrane although the exact substrates are not clearly defined yet. ATP13A3 is expressed in various tissues with notable expression in the lung and immune cells. This widespread expression suggests its important role in cellular homeostasis and signaling processes.
Biological function summary
ATP13A3 plays a significant role in maintaining ionic balance and cellular homeostasis. It does not appear to form part of a larger protein complex operating instead as an independent entity. Through its transport activity ATP13A3 supports cellular functions by regulating the concentration of metal ions inside the cell which is important for enzyme function and signal transduction.
Pathways
ATP13A3 takes part in ion transport and homeostasis pathways. These pathways are important for maintaining the concentration gradients necessary for several cellular processes. One significant protein related to these pathways is ATP1A1 which is another ATPase involved in sodium and potassium transport. Together these ATPases contribute to normal cellular function by managing ion transport balance and indirectly supporting processes like neurotransmission and muscle contraction.
ATP13A3 has been linked to pulmonary arterial hypertension (PAH). Mutations in this protein may lead to disruptions in ion homeostasis contributing to the development of PAH. Another associated disorder is neurodegeneration where abnormal ion balances influence neuronal survival. Interactions with proteins like BMPR2 which also plays a role in vascular smooth muscle function highlight ATP13A3's involvement in these conditions. This connection demonstrates the importance of ATP13A3 in cellular and system-wide health.
