ATP6V1F Human
Description
ATP6V1F is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
ATPase Transporting, Lysosomal V1 Subunit F, also known as ATP6V1F, is a crucial component of the vacuolar ATPase (V-ATPase) complex. This enzyme complex is responsible for the acidification of intracellular organelles in eukaryotic cells, which is essential for various cellular processes such as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation .
The V-ATPase complex is composed of two main domains: the cytosolic V1 domain and the transmembrane V0 domain. The V1 domain, where ATP6V1F is located, consists of multiple subunits including three A and three B subunits, two G subunits, and the C, D, E, F, and H subunits. The V1 domain is responsible for ATP hydrolysis, which provides the energy required for proton translocation .
ATP6V1F specifically is a 14 kDa subunit within the V1 domain. It plays a critical role in the assembly and stability of the V-ATPase complex. The V0 domain, on the other hand, is responsible for proton translocation across the membrane and consists of five different subunits: a, c, c’, c", and d .
The ATP6V1F gene is located on chromosome 7q32.1 and encodes a protein that is predominantly hydrophilic. The gene has been identified through large-scale sequencing of a human fetal brain cDNA library. The encoded protein shares significant sequence identity with homologs in other species, such as Manduca sexta and Drosophila .
The acidification of intracellular organelles mediated by V-ATPase is vital for numerous cellular functions. For instance, it is involved in the degradation of macromolecules within lysosomes, the maturation of endosomes, and the generation of synaptic vesicle proton gradients necessary for neurotransmitter loading. Dysregulation of V-ATPase activity can lead to various diseases, including neurodegenerative disorders and cancer .
Mutations in the ATP6V1F gene have been associated with several genetic disorders. Notably, it has been linked to Spastic Paraplegia 2, X-Linked, and Myotonia Congenita, Autosomal Dominant. These conditions highlight the importance of ATP6V1F in maintaining normal cellular function and the potential consequences of its dysfunction .
