Aliases for ATP6V0D1 Gene
- ATPase H+ Transporting V0 Subunit D1 2 3 5
- ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D1 2 2 3
- VPATPD 2 3 4
- P39 2 3 4
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member D 2 3
- V-ATPase 40 KDa Accessory Protein 3 4
- V-Type Proton ATPase Subunit D 1 3 4
- Vacuolar Proton Pump Subunit D 1 3 4
- 32 KDa Accessory Protein 3 4
- V-ATPase AC39 Subunit 3 4
External Ids for ATP6V0D1 Gene
Previous HGNC Symbols for ATP6V0D1 Gene
Previous GeneCards Identifiers for ATP6V0D1 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 known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V0D1 Gene
ATP6V0D1 (ATPase H+ Transporting V0 Subunit D1) is a Protein Coding gene. Diseases associated with ATP6V0D1 include Autosomal Recessive Distal Renal Tubular Acidosis and Tinea Nigra. Among its related pathways are Insulin receptor recycling and Lysosome. Gene Ontology (GO) annotations related to this gene include proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V0D2.
UniProtKB/Swiss-Prot Summary for ATP6V0D1 Gene
Subunit of the integral membrane V0 complex of the lysosomal proton-transporting V-type ATPase (v-ATPase) (PubMed:28296633, PubMed:30374053). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (PubMed:30374053). May play a role in coupling of proton transport and ATP hydrolysis (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity).
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.