ATP6V1H Back

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of ATP6V1H
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Community Annotation of ATP6V1H Add / Edit ATP6V1H: Annotations

No community annotations yet for ATP6V1H.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ATP6V1H is highly significantly mutated in
(none)
ATP6V1H is significantly mutated in
(none)
ATP6V1H is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ATP6V1H