ATP6AP1

The human gene ATP6AP1 encodes the S1 subunit of the enzyme V-type proton ATPase.^[5][6][7]

AliasesATP6AP1, 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3, ATPase H+ transporting accessory protein 1

External IDsOMIM: 300197; MGI: 109629; HomoloGene: 914; GeneCards: ATP6AP1; OMA:ATP6AP1 - orthologs

Chr.X chromosome (human)^[1]

End154,436,516 bp^[1]

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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)[1] Band Xq28 Start 154,428,633 bp[1] End 154,436,516 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.96 cM Start 73,340,703 bp[2] End 73,348,327 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 537 54411 Ensembl ENSG00000071553 ENSMUSG00000019087 UniProt Q15904 Q9R1Q9 RefSeq (mRNA) NM_001183 NM_018794 NM_001358375 NM_001358380 RefSeq (protein) NP_001174 NP_061264 NP_001345304 NP_001345309 Location (UCSC) Chr X: 154.43 – 154.44 Mb Chr X: 73.34 – 73.35 Mb PubMed search [3] [4]
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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.^[7]