Anti-ATP6V1H antibody [HL1316]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

ATP6V1H also known as VMA13 or V1H is a subunit of the V1 domain in vacuolar ATPases (V-ATPases). It plays a role in the formation of proton channels important for acidifying vesicular environments. The protein has a mass of approximately 54 kDa. The gene encoding ATP6V1H is expressed in various tissues with higher levels observed in the kidney and brain indicating a more demanding need for ion transport and homeostasis in these tissues.

Biological function summary

ATP6V1H functions within the V-ATPase complex which is essential for acidifying intracellular organelles such as lysosomes and endosomes. This subunit contributes to energy-dependent proton transport affecting pH regulation within cells and intracellular processes like protein degradation and receptor-mediated endocytosis. It often cooperates with other subunits within the V-ATPase complex to maintain proper cell function and homeostasis.

Pathways

ATP6V1H participates in critical processes such as endocytosis and protein sorting pathways. These pathways influence cellular environment and nutrient sensing. The ATP6V1H subunit interacts with proteins like ATP6V1A and ATP6V0C which are other components of the V-ATPase complex. Together they form a complex vital for membrane-mediated transport and cellular signaling pathways.

Associated diseases and disorders

ATP6V1H has been linked to conditions like osteoporosis and neurodegenerative diseases. The protein's malfunction can lead to improper acidification within the cell affecting bone resorption and neural activity. Disorders related to ATP6V1H often involve mutations in the associated V-ATPase complex subunits such as ATP6V1B1. These dysfunctional pathways highlight the importance of ATP6V1H in maintaining normal cellular and physiological functions.