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
Functions
ATP binding / hydrolase activity / protein-containing complex binding / proton transmembrane transporter activity
Processes
adult 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 transport
Components
apical 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
ResourceLink
UniProtKB IDP15313
UniProtKB Entry NameVATB1_HUMAN
HGNC IDHGNC:853
General References
  1. 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]
  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]
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  4. 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]
  5. 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]
  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. 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]
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Drug Relations

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