ATP6V1A
Function
Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). 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 neurite development and synaptic connectivity (PubMed:29668857).
(Microbial infection) Plays an important role in virion uncoating during Rabies virus replication after membrane fusion. Specifically, participates in the dissociation of incoming viral matrix M proteins uncoating through direct interaction.
Involvement in disease
Cutis laxa, autosomal recessive, 2D
ARCL2D
A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
None
The disease is caused by variants affecting the gene represented in this entry.
Epileptic encephalopathy, infantile or early childhood, 3
IECEE3
A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation at Ser-384 by AMPK down-regulates its enzyme activity.
Sequence Similarities
Belongs to the ATPase alpha/beta chains family.
Tissue Specificity
High expression in the skin.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytosol
- Cytoplasmic vesicle
- Secretory vesicle
- Cytoplasmic vesicle
- Clathrin-coated vesicle membrane
- Peripheral membrane protein
- Lysosome
- Co-localizes with WFS1 in the secretory granules in neuroblastoma cell lines.
Alternative names
ATP6A1, ATP6V1A1, VPP2, ATP6V1A, V-type proton ATPase catalytic subunit A, V-ATPase subunit A, V-ATPase 69 kDa subunit, Vacuolar ATPase isoform VA68, Vacuolar proton pump subunit alpha