ATP6AP1

This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

ATPase H+ Transporting Accessory Protein 1

Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca2+-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe2+ prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Cellular iron ion homeostasis Source: UniProtKB
Cellular response to increased oxygen levels Source: UniProtKB
Establishment of organelle localization Source: UniProtKB
Insulin receptor signaling pathway Source: Reactome
Ion transmembrane transport Source: Reactome
pH reduction Source: UniProtKB
Positive regulation of bone resorption Source: UniProtKB
Positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
Positive regulation of exocytosis Source: UniProtKB
Positive regulation of osteoblast differentiation Source: UniProtKB
Positive regulation of osteoclast development Source: UniProtKB
Proton transmembrane transport Source: ProtInc
Regulation of cellular pH Source: GO_Central
Transferrin transport Source: Reactome

Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane. Not detected in trans-Golgi network.

Immunodeficiency 47 (IMD47): A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive.

Vacuolar: 42-419 aa
Helical: 420-440 aa
Cytoplasmic: 441-470 aa

N-glycosylated.