Citations for
1ARCL4A, ATP6V1A, ATP6V1E1, CDG2S
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BH, Mak CC, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PK, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.
Am J Hum Genet 100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. 2017
2ATP6V1E1, CECR2, CES, SLC25A18
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7. 2012
3ATP6V1A, ATP6V1E1
V-ATPase expression in the mouse olfactory epithelium.
Paunescu TG, Jones AC, Tyszkowski R, Brown D.
Am J Physiol Cell Physiol 295(4):C923-30. doi: 10.1152/ajpcell.00237.2008. 2008
4ATP6V1E1
Defective assembly of a hybrid vacuolar H(+)-ATPase containing the mouse testis-specific E1 isoform and yeast subunits.
Hayashi K, Sun-Wada GH, Wada Y, Nakanishi-Matsui M, Futai M.
Biochim Biophys Acta 1777(10):1370-7. doi: 10.1016/j.bbabio.2008.06.011. 2008
5ATP6V1E2, ATP6V1E1
A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E.
Imai-Senga Y, Sun-Wada GH, Wada Y, Futai M.
Gene 289(1-2):7-12. 2002
6ATP6V1E1
The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function.
Lu M, Vergara S, Zhang L, Holliday LS, Aris J, Gluck SL.
J Biol Chem 277(41):38409-15. 2002
7ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
Genome Res 11(6):1053-70. 2001
8ADPRTL4, ADTB1L1, ADTB1L2, ALG12, APOL2, ARHGAP8, ATP6V1E1, BCRL2, BCRL3, BCRL4, BCRL5, BCRL6, BRD1, CBX6, CBY1, CSF2RB2, DRG1, FAM108A5, FAM115B, HMG17L1, HMG17L2, HMGB1L10, INPP5J, MAFF, MAPK11, MPPED1, OSBP2, P2RX6, PATZ1, PITPNB, PPIL2, PRAME, PTPNS1L, RBX1, RHBDD3, RPL32L2, SBF1, SDF2L1, SEZ6L, SFI1, SH3BP1, SNAP29, TBC1D22A, TMEM184B, TOP3B2, TSSK1A, YME1L2, ZNF280A, ZNF280B
The DNA sequence of human chromosome 22.
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.
Nature 402(6761):489-95. 1999
9ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Structure and properties of the vacuolar (H+)-ATPases.
Forgac M.
J Biol Chem 274(19):12951-4. Review. No abstract available. 1999
10ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Vacuolar and plasma membrane proton-adenosinetriphosphatases.
Nelson N, Harvey WR.
Physiol Rev 79(2):361-85. Review. 1999
11ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Structure, function and regulation of the vacuolar (H+)-ATPase.
Stevens TH, Forgac M.
Annu Rev Cell Dev Biol 13:779-808. Review. 1997
12ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
Finbow ME, Harrison MA.
Biochem J 324 ( Pt 3):697-712. Review. 1997
13ATP6V1E1
The E subunit of vacuolar H+ -ATPase localizes close to the centromere on human chromosome 22.
Baud V, et al.
Hum Mol Genet 3 : 335-339. 1994
14ATP6V0D1, ATP6V1C1, ATP6V1E1
Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase.
van Hille B, Vanek M, Richener H, Green JR, Bilbe G.
Biochem Biophys Res Commun 197(1):15-21. 1993