Aliases for ATP6V0E1 Gene
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 9kD 2
- ATPase, H+ Transporting, Lysosomal 9kDa, V0 Subunit E 2
- H(+)-Transporting Two-Sector ATPase, Subunit H 3
- Vacuolar Proton-ATPase Subunit M9.2 3
- Vacuolar ATP Synthase Subunit H 3
- Vacuolar Proton Pump H Subunit 3
- V-ATPase H Subunit 3
- Vma21p 3
- Vma21 3
- M9.2 3
External Ids for ATP6V0E1 Gene
Previous HGNC Symbols for ATP6V0E1 Gene
Previous GeneCards Identifiers for ATP6V0E1 Gene
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V0E1 Gene
ATP6V0E1 (ATPase H+ Transporting V0 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V0E1 include Episodic Ataxia, Type 4 and Episodic Ataxia, Type 3. Among its related pathways are Insulin receptor recycling and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0E2.
UniProtKB/Swiss-Prot Summary for ATP6V0E1 Gene
Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.