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ATP6V1E1
Identifiers
Aliases	ATP6V1E1, ATP6E, ATP6E2, ATP6V1E, P31, Vma4, ATPase H+ transporting V1 subunit E1, ARCL2C
External IDs	OMIM: 108746; MGI: 894326; HomoloGene: 1282; GeneCards: ATP6V1E1; OMA:ATP6V1E1 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	17,628,749 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	120,799,754 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; prefrontal cortex; ; Pons; ; right frontal lobe; ; Brodmann area 9; ; C1 segment; ; cingulate gyrus; ; anterior cingulate cortex; ; Brodmann area 46; ; nucleus accumbens;
	Top expressed in
	facial motor nucleus; ; dentate gyrus of hippocampal formation granule cell; ; anterior horn of spinal cord; ; superior frontal gyrus; ; primary visual cortex; ; right kidney; ; Epithelium of choroid plexus; ; barrel cortex; ; pontine nuclei; ; retinal pigment epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATPase binding; proton-transporting ATPase activity, rotational mechanism; P-type proton-exporting transporter activity; protein binding; hydrolase activity;
Cellular component	cytoplasm; cytosol; endosome; proton-transporting two-sector ATPase complex; microvillus; lysosomal membrane; apical plasma membrane; mitochondrion; proton-transporting two-sector ATPase complex, catalytic domain; extracellular exosome;
Biological process	insulin receptor signaling pathway; transferrin transport; ion transport; ion transmembrane transport; regulation of macroautophagy; phagosome acidification; transport; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	529
	11973
	ENSG00000131100
	ENSMUSG00000019210
	P36543; Q53Y06
	P50518
	NM_001696; NM_001039366; NM_001039367
	NM_007510
	NP_001034455; NP_001034456; NP_001687; NP_001687.1
	NP_031536
	Wikidata
View/Edit Human	View/Edit Mouse

V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.^[5]^[6]^[7]

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131100 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019210 – 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.
^ Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M (Jul 1994). "The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22". Hum Mol Genet. 3 (2): 335–9. doi:10.1093/hmg/3.2.335. PMID 8004105.
^ van Hille B, Vanek M, Richener H, Green JR, Bilbe G (Jan 1994). "Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase". Biochem Biophys Res Commun. 197 (1): 15–21. doi:10.1006/bbrc.1993.2434. PMID 8250920.
^ ^a ^b "Entrez Gene: ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1".