V-type proton ATPase subunit B, brain isoform

Details

Name
V-type proton ATPase subunit B, brain isoform
Synonyms
  • ATP6B2
  • Endomembrane proton pump 58 kDa subunit
  • HO57
  • V-ATPase subunit B 2
  • Vacuolar proton pump subunit B 2
  • VPP3
Gene Name
ATP6V1B2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0017231|V-type proton ATPase subunit B, brain isoform
MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVIL
DHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILR
TPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGM
NSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKDVVDYSEENFAIVFAAMGVNMET
ARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDM
SSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDD
ITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIG
WQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
Number of residues
511
Molecular Weight
56500.21
Theoretical pI
5.55
GO Classification
Functions
ATP binding / hydrogen ion transmembrane transporter activity / proton-transporting ATPase activity, rotational mechanism
Processes
ATP hydrolysis coupled proton transport / ATP metabolic process / cellular iron ion homeostasis / insulin receptor signaling pathway / ion transmembrane transport / phagosome maturation / proton transport / transferrin transport / transmembrane transport
Components
cytosol / endomembrane system / extracellular exosome / integral component of membrane / intracellular membrane-bounded organelle / lysosomal membrane / melanosome / microvillus / myelin sheath / plasma membrane / proton-transporting V-type ATPase, V1 domain / ruffle
General Function
Proton-transporting atpase activity, rotational mechanism
Specific 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.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Endomembrane system
Gene sequence
>lcl|BSEQ0017232|V-type proton ATPase subunit B, brain isoform (ATP6V1B2)
ATGGCGCTGCGGGCGATGCGGGGGATTGTCAACGGGGCCGCACCCGAGCTACCCGTGCCC
ACCGGTGGGCCGGCGGTGGGAGCTCGGGAGCAGGCGCTGGCAGTCAGTCGGAACTACCTC
TCCCAGCCTCGCCTCACATACAAGACAGTATCTGGAGTCAATGGTCCACTAGTGATCTTA
GATCATGTTAAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACA
AAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTATTTGAA
GGGACTTCAGGTATAGATGCTAAGAAAACGTCCTGTGAGTTTACTGGGGATATTCTCCGA
ACACCGGTGTCTGAGGATATGCTTGGTCGGGTATTCAATGGATCGGGAAAACCCATTGAC
AGAGGTCCTGTTGTACTGGCCGAAGACTTCCTTGATATCATGGGTCAGCCAATCAACCCT
CAATGTCGAATCTACCCAGAGGAAATGATTCAGACTGGCATTTCGGCCATCGATGGGATG
AACAGTATTGCTAGGGGGCAGAAAATTCCTATCTTCTCTGCTGCTGGGCTACCACACAAT
GAGATTGCAGCTCAGATCTGTCGCCAGGCTGGTTTGGTAAAGAAATCCAAAGATGTAGTA
GACTACAGTGAGGAAAATTTTGCAATTGTATTTGCTGCTATGGGTGTAAACATGGAAACT
GCCCGGTTCTTCAAATCTGACTTTGAAGAAAATGGCTCAATGGACAATGTCTGCCTCTTT
TTGAACTTGGCTAATGACCCAACCATTGAGCGAATTATCACTCCTCGCCTGGCTCTAACC
ACAGCTGAATTTCTGGCGTACCAATGTGAGAAACATGTATTGGTTATTCTAACAGACATG
AGTTCTTATGCTGAAGCACTTCGAGAGGTTTCAGCAGCCAGGGAAGAGGTACCTGGTCGA
CGAGGTTTTCCAGGTTACATGTATACAGATTTAGCCACGATATATGAACGCGCTGGGCGA
GTGGAAGGGAGAAACGGCTCGATTACTCAAATCCCTATTCTAACCATGCCTAATGATGAT
ATCACTCACCCCATCCCAGACTTGACTGGCTACATTACAGAGGGGCAGATCTATGTGGAC
AGACAGCTGCACAACAGACAGATTTATCCACCTATCAATGTGCTGCCCTCACTATCACGG
TTAATGAAGTCTGCTATTGGAGAAGGGATGACCAGGAAGGATCATGCCGATGTATCTAAC
CAGCTATATGCGTGCTATGCTATTGGAAAGGATGTGCAAGCCATGAAAGCTGTCGTTGGA
GAAGAAGCCCTTACCTCAGATGATCTTCTCTACTTGGAATTTCTGCAGAAGTTTGAGAGG
AACTTCATTGCTCAGGGTCCTTACGAAAATCGCACTGTCTTTGAGACTTTGGACATTGGC
TGGCAGCTACTCCGAATCTTCCCCAAAGAAATGCTGAAGAGAATCCCTCAGAGCACCCTC
AGCGAATTTTACCCTCGAGACTCTGCAAAGCATTAG
Chromosome Location
8
Locus
8p22-p21
External Identifiers
ResourceLink
UniProtKB IDP21281
UniProtKB Entry NameVATB2_HUMAN
GenBank Protein ID179563
GenBank Gene IDM60346
HGNC IDHGNC:854
General References
  1. Nelson RD, Guo XL, Masood K, Brown D, Kalkbrenner M, Gluck S: Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3541-5. [PubMed:1373501]
  2. van Hille B, Richener H, Schmid P, Puettner I, Green JR, Bilbe G: Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. Biochem J. 1994 Oct 1;303 ( Pt 1):191-8. [PubMed:7945239]
  3. 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. [PubMed:14702039]
  4. 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. [PubMed:15489334]
  5. Lee BS, Underhill DM, Crane MK, Gluck SL: Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells. J Biol Chem. 1995 Mar 31;270(13):7320-9. [PubMed:7706273]
  6. Bernasconi P, Rausch T, Struve I, Morgan L, Taiz L: An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase. J Biol Chem. 1990 Oct 15;265(29):17428-31. [PubMed:2145275]
  7. Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. J Proteome Res. 2003 Jan-Feb;2(1):69-79. [PubMed:12643545]
  8. Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed:17081065]
  9. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  10. Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P: De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10. [PubMed:24913193]
  11. Kortum F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. [PubMed:25915598]
  12. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [PubMed:25944712]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB073474-(2-Aminoethyl)Benzenesulfonyl FluorideexperimentalunknownDetails
DB05260Gallium nitrateapproved, investigationalyesinhibitorDetails