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.^[5]^[6]^[7]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000071553 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019087 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M (Jun 1997). "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci". Hum Mol Genet. 5 (5): 659–68. doi:10.1093/hmg/5.5.659. PMID 8733135.
^ Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A (Feb 1994). "Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection". Hum Mol Genet. 2 (11): 1865–9. doi:10.1093/hmg/2.11.1865. PMID 8281148.
^ ^a ^b "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

External links

Human ATP6AP1 genome location and ATP6AP1 gene details page in the UCSC Genome Browser.

Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 (3): 697–712. doi:10.1042/bj3240697. PMC 1218484. PMID 9210392.
Stevens TH, Forgac M (1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID 9442887.
Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. doi:10.1152/physrev.1999.79.2.361. PMID 10221984. S2CID 1477911.
Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. doi:10.1074/jbc.274.19.12951. PMID 10224039.
Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. doi:10.1023/A:1001884227654. PMID 10340843.
Wieczorek H, Brown D, Grinstein S, et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID 10440860. S2CID 23505139.
Yokoi H, Hadano S, Kogi M, et al. (1994). "Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection". Genomics. 20 (3): 404–11. doi:10.1006/geno.1994.1194. PMID 8034313.
Holthuis JC, Jansen EJ, Schoonderwoert VT, et al. (1999). "Biosynthesis of the vacuolar H+-ATPase accessory subunit Ac45 in Xenopus pituitary". Eur. J. Biochem. 262 (2): 484–91. doi:10.1046/j.1432-1327.1999.00396.x. PMID 10336633.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Bagai S, Rubio E, Cheng JF, et al. (2002). "Fibroblast growth factor-10 is a mitogen for urothelial cells". J. Biol. Chem. 277 (26): 23828–37. doi:10.1074/jbc.M201658200. PMID 11923311.
Hodi FS, Schmollinger JC, Soiffer RJ, et al. (2002). "ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction". Proc. Natl. Acad. Sci. U.S.A. 99 (10): 6919–24. Bibcode:2002PNAS...99.6919H. doi:10.1073/pnas.102025999. PMC 124504. PMID 11983866.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000071553 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000019087 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8733135-5] Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M (Jun 1997). "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci". Hum Mol Genet. 5 (5): 659–68. doi:10.1093/hmg/5.5.659. PMID 8733135.

[pmid8281148-6] Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A (Feb 1994). "Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection". Hum Mol Genet. 2 (11): 1865–9. doi:10.1093/hmg/2.11.1865. PMID 8281148.

[entrez-7] "Entrez Gene: ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1".

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[4]

[5]

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[7]

References

External links

Further reading