V-type proton ATPase subunit B, kidney isoform
Details
- Name
- V-type proton ATPase subunit B, kidney isoform
- Synonyms
- ATP6B1
- Endomembrane proton pump 58 kDa subunit
- V-ATPase subunit B 1
- Vacuolar proton pump subunit B 1
- VATB
- VPP3
- Gene Name
- ATP6V1B1
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0052447|V-type proton ATPase subunit B, kidney isoform MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFA QYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSED MLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARG QKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKS DFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIP DLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACY AIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRI FPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL
- Number of residues
- 513
- Molecular Weight
- 56832.54
- Theoretical pI
- Not Available
- GO Classification
- FunctionsATP binding / hydrolase activity / protein-containing complex binding / proton transmembrane transporter activityProcessesadult behavior / ATP metabolic process / calcium ion homeostasis / chloride ion homeostasis / excretion / inner ear morphogenesis / insulin receptor signaling pathway / ion transmembrane transport / olfactory behavior / ossification / pH reduction / phagosome acidification / potassium ion homeostasis / prostaglandin metabolic process / proton transmembrane transport / regulation of gene expression / regulation of macroautophagy / regulation of pH / renal sodium excretion / renal sodium ion transport / renal water homeostasis / sensory perception of sound / transferrin transportComponentsapical plasma membrane / basolateral plasma membrane / cell / cytoplasm / cytosol / extracellular exosome / extrinsic component of synaptic vesicle membrane / lateral plasma membrane / microvillus / proton-transporting V-type ATPase, V1 domain / vacuolar proton-transporting V-type ATPase complex
- General Function
- Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
- Specific Function
- Atp binding
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Endomembrane system
- Gene sequence
>lcl|BSEQ0052448|V-type proton ATPase subunit B, kidney isoform (ATP6V1B1) ATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGTAGCTGCAACCTAGGT GCAGCCCGAGAACACATGCAGGCGGTCACCCGAAACTACATCACCCACCCCCGTGTCACC TACAGGACTGTGTGCAGCGTGAACGGGCCCCTGGTGGTGCTGGACCGGGTCAAGTTTGCC CAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTG CTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGTTTGAAGGGACATCAGGGATCGAT GCCAGGAAGACCACTTGCGAATTTACAGGGGACATCCTACGAACTCCGGTGTCAGAGGAC ATGCTGGGTCGGGTTTTCAATGGCTCCGGCAAGCCCATTGACAAGGGGCCAGTGGTCATG GCGGAGGACTTTCTGGATATCAATGGCCAGCCCATCAACCCGCACTCCCGCATCTACCCC GAGGAGATGATTCAGACGGGCATTTCTCCTATTGACGTCATGAACAGCATTGCCCGCGGC CAGAAGATCCCCATCTTCTCAGCAGCCGGGCTCCCCCACAATGAGATTGCCGCTCAGATC TGCCGCCAGGCGGGGCTGGTGAAGAAGTCCAAGGCTGTGCTGGATTACCATGACGACAAC TTCGCCATCGTCTTTGCAGCCATGGGGGTGAACATGGAGACAGCCAGATTCTTCAAGTCT GACTTTGAGCAGAATGGAACCATGGGGAACGTCTGCCTCTTCCTGAACTTGGCCAATGAC CCCACGATCGAGCGGATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCC TACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCC TTGCGGGAGGTCTCTGCTGCTAGAGAGGAGGTGCCTGGGCGCCGAGGGTTTCCTGGATAT ATGTACACAGACCTGGCCACCATCTACGAGCGGGCGGGCCGCGTGGAGGGTCGGGGAGGA TCCATCACACAGATCCCCATCCTCACCATGCCCAACGACGATATCACCCACCCTATCCCA GACTTGACGGGCTTCATCACAGAGGGACAGATCTACGTGGACAGACAGCTTCACAACAGA CAGATCTACCCCCCCATCAACGTGCTCCCTTCCCTGTCGCGGCTGATGAAGTCAGCCATT GGGGAAGGCATGACAAGAAAGGACCATGGAGATGTCTCCAACCAGCTGTACGCCTGCTAT GCCATCGGGAAGGACGTGCAGGCCATGAAGGCAGTAGTTGGGGAGGAGGCGCTCACCTCT GAGGACCTGCTCTACCTGGAATTCCTGCAGAAGTTTGAGAAGAACTTCATCAATCAGGGC CCCTACGAGAACCGCTCGGTGTTCGAGTCGCTGGACCTGGGCTGGAAGCTGCTGCGCATC TTCCCCAAGGAGATGCTGAAGCGCATTCCGCAGGCCGTGATCGACGAGTTCTATTCCCGC GAGGGGGCGCTGCAGGACCTCGCGCCTGACACTGCGCTCTAG
- Chromosome Location
- 2
- Locus
- 2p13.3
- External Identifiers
Resource Link UniProtKB ID P15313 UniProtKB Entry Name VATB1_HUMAN HGNC ID HGNC:853 - General References
- Sudhof TC, Fried VA, Stone DK, Johnston PA, Xie XS: Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. Proc Natl Acad Sci U S A. 1989 Aug;86(16):6067-71. doi: 10.1073/pnas.86.16.6067. [Article]
- 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]
- 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]
- Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev S, Kurtz I: The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction. Am J Physiol Cell Physiol. 2003 Mar;284(3):C667-73. Epub 2002 Nov 20. [Article]
- Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP: Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999 Jan;21(1):84-90. doi: 10.1038/5022. [Article]
- 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]
- Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F: Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol. 2003 Feb;18(2):105-9. doi: 10.1007/s00467-002-1018-8. Epub 2002 Dec 18. [Article]
- Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG: Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. [Article]