V-type proton ATPase 116 kDa subunit a isoform 4

Details

Name
V-type proton ATPase 116 kDa subunit a isoform 4
Synonyms
  • ATP6N1B
  • ATP6N2
  • V-ATPase 116 kDa isoform a4
  • Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4
  • Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
Gene Name
ATP6V0A4
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052443|V-type proton ATPase 116 kDa subunit a isoform 4
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCES
LERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQS
FLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRE
RMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICD
GFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQ
KMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSK
TAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLL
AALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSS
WSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYK
MKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCC
FDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPF
ILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVF
VHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFI
IFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE
Number of residues
840
Molecular Weight
96385.025
Theoretical pI
Not Available
GO Classification
Functions
ATPase binding / proton-transporting ATPase activity, rotational mechanism
Processes
excretion / insulin receptor signaling pathway / ion transmembrane transport / ossification / phagosome acidification / proton transmembrane transport / regulation of pH / sensory perception of sound / transferrin transport / vacuolar acidification
Components
apical part of cell / apical plasma membrane / brush border membrane / cell / endosome / endosome membrane / extracellular exosome / integral component of membrane / lysosomal membrane / phagocytic vesicle membrane / plasma membrane / vacuolar proton-transporting V-type ATPase complex / vacuolar proton-transporting V-type ATPase, V0 domain
General Function
Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.
Specific Function
Atpase binding
Pfam Domain Function
Transmembrane Regions
391-409 412-428 444-473 539-558 577-597 643-662 728-752 774-812
Cellular Location
Apical cell membrane
Gene sequence
>lcl|BSEQ0052444|V-type proton ATPase 116 kDa subunit a isoform 4 (ATP6V0A4)
ATGGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAA
GCTGCATATTGCTGTGTGGCTGAGCTCGGAGAGCTCGGATTGGTTCAGTTCAAAGATTTA
AATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCA
CTGGAGAGAATCCTCCGTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTG
CTCGAGAAAAGCCCACTGACCCCGCTCCCACGGGAAATGATTACCCTGGAGACTGTTCTA
GAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGC
TTCCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAGACG
GAAACCAATTTAGCTGATGATTTCTTTACTGAGGACACTTCTGGCCTCCTGGAGTTGAAA
GCAGTGCCTGCATATATGACCGGAAAGTTGGGGTTCATAGCCGGTGTGATCAACAGGGAG
AGGATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAG
TTCAGTGAGATGGACGCCCCTCTGGAGGATCCTGTGACGAAAGAAGAAATTCAGAAGAAC
ATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGAT
GGGTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTG
GAGAGCGTCAATGTGAGGCTGGAAGATTTAATCACCGTCATAACACAAACAGAGTCTCAC
CGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAG
AAGATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGT
GTCATCGCCGAGATCTGGTTCCCGGTGGCAGATGCCACACGTATCAAGAGGGCACTGGAG
CAAGGCATGGAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAA
ACAGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTT
GATGCCTATGGTGTCGGCAGCTACCGGGAGATAAACCCAGCCCCCTACACCATCATCACT
TTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTG
GCTGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAG
ATTTGGAACACCTTCTTCCACGGGCGCTATCTGATCCTACTTATGGGCATCTTCTCCATC
TACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCT
TGGAGTGTCCAACCCATGTTCAGAAACGGCACATGGAATACTCATGTAATGGAGGAAAGT
CTATATCTGCAGCTGGACCCAGCCATACCAGGAGTGTATTTTGGAAATCCATACCCGTTT
GGGATTGATCCGATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAA
ATGAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTT
TTCAATCACATATACTTCAGAAGAACTCTCAACATCATTCTGCAATTTATCCCTGAGATG
ATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGC
TTTGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTT
CTGTTTAACTACAGTGACTCTTCCAACGCACCCCTCTACAAACATCAGCAAGAAGTCCAA
AGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTT
ATTCTTAGAGCCAGTCATCGGAAATCCCAGCTGCAGGCATCCAGGATCCAAGAAGATGCC
ACTGAGAACATTGAAGGTGATAGCTCCAGCCCTTCTAGCCGTTCTGGCCAGAGGACTTCT
GCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAGTTCAACTTTGGAGACGTCTTT
GTCCACCAAGCCATCCACACCATCGAGTACTGCCTGGGCTGCATTTCAAACACAGCCTCC
TACCTGCGGCTCTGGGCCCTCAGCCTGGCTCATGCACAACTGTCTGAAGTGCTCTGGACT
ATGGTGATGAACAGCGGCCTTCAGACGCGAGGCTGGGGAGGAATCGTCGGGGTTTTTATT
ATTTTTGCCGTATTTGCTGTCCTGACAGTAGCCATCCTTCTGATCATGGAGGGCCTCTCT
GCTTTCCTGCACGCCCTGCGACTGCACTGGGTTGAGTTCCAGAACAAGTTCTATGTCGGG
GATGGTTACAAGTTTTCTCCATTCTCCTTTAAACACATCCTGGATGGCACAGCCGAGGAG
TAG
Chromosome Location
7
Locus
7q34
External Identifiers
ResourceLink
UniProtKB IDQ9HBG4
UniProtKB Entry NameVPP4_HUMAN
HGNC IDHGNC:866
General References
  1. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet. 2000 Sep;26(1):71-5. doi: 10.1038/79208. [Article]
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  3. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [Article]
  4. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [Article]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  6. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. [Article]
  7. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [Article]
  8. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01133Tiludronic acidapproved, investigational, vet_approvedunknowninhibitorDetails