ATP6AP1

ATP6AP1
Identifiers
Aliases	ATP6AP1, 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATPase H+ transporting accessory protein 1
External IDs	OMIM: 300197; MGI: 109629; HomoloGene: 914; GeneCards: ATP6AP1; OMA:ATP6AP1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	154,436,516 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	73,348,327 bp
RNA expression pattern
	Top expressed in
	Brodmann area 10; ; paraflocculus of cerebellum; ; islet of Langerhans; ; stromal cell of endometrium; ; right hemisphere of cerebellum; ; right frontal lobe; ; anterior pituitary; ; frontal pole; ; middle frontal gyrus; ; cingulate gyrus;
	Top expressed in
	stroma of bone marrow; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus; ; primary visual cortex; ; calvaria; ; granulocyte; ; epithelium of stomach; ; cerebellar cortex; ; anterior horn of spinal cord; ; hippocampus proper;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; proton-transporting ATP synthase activity, rotational mechanism; transporter activity; proton-transporting ATPase activity, rotational mechanism; ATP binding;
Cellular component	integral component of membrane; proton-transporting V-type ATPase, V1 domain; membrane; proton-transporting two-sector ATPase complex; endosome membrane; extracellular exosome; endoplasmic reticulum; endoplasmic reticulum membrane; endoplasmic reticulum-Golgi intermediate compartment membrane; plasma membrane proton-transporting V-type ATPase complex;
Biological process	insulin receptor signaling pathway; transferrin transport; pH reduction; ion transport; positive regulation of bone resorption; positive regulation of osteoclast development; establishment of organelle localization; ion transmembrane transport; positive regulation of osteoblast differentiation; positive regulation of ERK1 and ERK2 cascade; positive regulation of exocytosis; cellular iron ion homeostasis; cellular response to increased oxygen levels; transport; regulation of cellular pH; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	537
	54411
	ENSG00000071553
	ENSMUSG00000019087
	Q15904
	Q9R1Q9
	NM_001183
	NM_018794; NM_001358375; NM_001358380
	NP_001174
	NP_061264; NP_001345304; NP_001345309
	Wikidata
View/Edit Human	View/Edit Mouse

The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-type proton ATPase.

This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is composed 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 is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules.