DISEASES

Disease-gene associations mined from literature

Literature on ATP6V0D1

ATP6V0D1 [ENSP00000290949]

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar 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. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (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; Belongs to the V-ATPase V0D/AC39 subunit family.

Synonyms:  ATP6V0D1,  C6SUN6,  F5GYQ1,  H3BQB4,  H3BSG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM