1 | ATP6V0A1, DEE104
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| Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms
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| Indrawinata K, Argiropoulos P, Sugita S.
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| Front Mol Neurosci. Jul 3;16:1135015. doi: 10.3389/fnmol.2023.1135015. 2023
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2 | ATP6V0A1, CALCA, NGF
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| NGF-Induced Upregulation of CGRP in Orofacial Pain Induced by Tooth Movement Is Dependent on Atp6v0a1 and Vesicle Release.
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| Tao T, Liu Y, Zhang J, Lai W, Long H.
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| Int J Mol Sci. Sep 28;23(19):11440. doi: 10.3390/ijms231911440. 2022
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3 | ATP6V0A1
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| Adipocytes control food intake and weight regain via Vacuolar-type H+ ATPase.
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| J, Zhang D, Sasik R, Ciaraldi T, Petrascheck M, Osborn O.
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| Nat Commun. Aug 30;13(1):5092. doi: 10.1038/s41467-022-32764-5. 2022
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4 | ATP6V0A1
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| ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
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| Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H.
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| Nat Commun. Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5. 2021
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5 | ATP6V0A1, DEE104, NEDEBA
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| Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
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| Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C.
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| Brain Commun. Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. 2021
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6 | ATP6V0A1, SNX10
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| A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo.
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| Chen Y, Wu B, Xu L, Li H, Xia J, Yin W, Li Z, Shi D, Li S, Lin S, Shu X, Pei D.
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| Cell Res 22(2):333-45. doi: 10.1038/cr.2011.134. Epub 2011 Aug 16.
2012
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7 | ATP6V0A1, ATP6V0A2
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| Vacuolar H(+)-ATPase subunits Voa1 and Voa2 cooperatively regulate secretory vesicle acidification, transmitter uptake, and storage.
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| Saw NM, Kang SY, Parsaud L, Han GA, Jiang T, Grzegorczyk K, Surkont M, Sun-Wada GH, Wada Y, Li L, Sugita S.
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| Mol Biol Cell 22(18):3394-409. Epub 2011 Jul 27.
2011
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8 | ATP6V0A1, ATP6V0A2, ATP6V0A4, TCIRG1
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| Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.
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| Schulz N, Dave MH, Stehberger PA, Chau T, Wagner CA.
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| Cell Physiol Biochem 20(1-4):109-20.
2007
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9 | ATP6V0A1
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| V1 and V0 domains of the human H+-ATPase are linked by an interaction between the G and a subunits.
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| Norgett EE, Borthwick KJ, Al-Lamki RS, Su Y, Smith AN, Karet FE.
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| J Biol Chem 282(19):14421-7. Epub 2007 Mar 14.
2007
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10 | AT P6V0D1, ATP6V0A1, ATP6V0A4, ATP6V0D2, ATP6V1A, ATP6V1C1, ATP6V1C2, ATP6V1G1, ATP6V1G3
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| Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis.
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| Pietrement C, Sun-Wada GH, Silva ND, McKee M, Marshansky V, Brown D, Futai M, Breton S.
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| Biol Reprod 74(1):185-94. Epub 2005 Sep 28.PMID: 16192400 2006
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11 | ATP6V0A1, ATP6V0A4, ATP6V1F
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| Neurotransmitter release: the dark side of the vacuolar-H+ATPase.
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| Morel N.
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| Biol Cell 95(7):453-7. Review. 2003
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12 | ATP6V0A1
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| Structure and properties of the vacuolar (H+)-ATPases.
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| Forgac M.
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| J Biol Chem 274(19):12951-4. Review. No abstract available.
1999
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13 | ATP6V0A1, GIP, GNGT2, B4GALNT2, CALCOCO2, PDK2, PHB, SLC35B1, IGFBP2
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| Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level.
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| Mohlke KL, et al.
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| Genomics 54 : 19-30. 1998
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14 | BRCA1, HSD17B1, NRXN3, TUBG1, ATP6V0A1, PSME3
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| Molecular cloning and expression pattern of genes from a 470 Kb region near BRCA1 locus on chromosome 17q21.
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| Jacob ANK, et al.
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| Oncogene 11 : 981-986. 1995
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15 | AOC3P,ATP6V0A1,BRCA1,DDX5,ETV4,EZH1,FLT4R,GSD1A,HMG17P1,HSD17B1,NRXN3,RPL27,TUBG1
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| Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.
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| Brody LC, et al.
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| Genomics 25 : 238-247. 1995
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16 | NBR1, BRCA1, EZH1, HERVK, HMG17P1, PSME3, NAGLU, DUSP3, RAB5C, TUBG1, AOC3P, ATP6V0A1, VAT1
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| 22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors.
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| Friedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CI, Meza JE, Anderson LA, Dowd P, Lee MK, Rowell SE, et al.
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| Genomics 25(1):256-63. 1995
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17 | ATP6V0A1
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| Alternative mRNA splicing generates tissue-specific isoforms of 116-kDa polypeptide of vacuolar proton pump.
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| Peng SB, et al.
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| J Biol Chem 269 : 17262-17266. 1994
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18 | ATP6V0A1
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| Sequence of a mouse embryo cDNA clone encoding proteolipid subunit 9 (P1) of the mitochondrial H(+)-ATP synthase.
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| Piko L, et al.
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| Biochim Biophys Acta 1184 : 139-141. 1994
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19 | ATP6V0A1, ATP6V1B2
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| Chromosomal assignments of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1 (116 kDa) in human and mouse.
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| …z¨elik T, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2008-2009. 1991
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