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  4. Recombinant Human V-type proton ATPase subunit B, kidney isoform (ATP6V1B1)

Recombinant Human V-type proton ATPase subunit B, kidney isoform (ATP6V1B1)

  • 中文名稱：
    Recombinant Human V-type proton ATPase subunit B, kidney isoform(ATP6V1B1)
  • 貨號：
    CSB-YP002397HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human V-type proton ATPase subunit B, kidney isoform(ATP6V1B1)
  • 貨號：
    CSB-EP002397HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human V-type proton ATPase subunit B, kidney isoform(ATP6V1B1)
  • 貨號：
    CSB-EP002397HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    Recombinant Human V-type proton ATPase subunit B, kidney isoform(ATP6V1B1)
  • 貨號：
    CSB-BP002397HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human V-type proton ATPase subunit B, kidney isoform(ATP6V1B1)
  • 貨號：
    CSB-MP002397HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    Atp6b1; ATP6V1B1; ATPase; H+ transporting; lysosomal (vacuolar proton pump); beta 56/58 kDa; isoform 1; ATPase; H+ transporting; lysosomal 56/58kDa; V1 subunit B; isoform 1; ATPase; H+ transporting; V1 subunit B; isoform 1; Endomembrane proton pump 58 kDa subunit; H(+) transporting two sector ATPase 58kD subunit; H+ ATPase beta 1 subunit; kidney isoform; Lysosomal 56/58kDa; MGC32642; RTA1B; V ATPase B1 subunit; V type proton ATPase subunit B kidney isoform; V type proton ATPase subunit B; kidney isoform; V-ATPase subunit B 1; V-type proton ATPase subunit B; Vacuolar proton pump 3; Vacuolar proton pump subunit 3; Vacuolar proton pump subunit B 1; VATB; VATB1_HUMAN; VMA2; Vpp 3; Vpp3
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full length protein
  • 表達區域：
    1-513
  • 氨基酸序列
    MAMEIDSRPG GLPGSSCNLG AAREHMQAVT RNYITHPRVT YRTVCSVNGP LVVLDRVKFA QYAEIVHFTL PDGTQRSGQV LEVAGTKAIV QVFEGTSGID ARKTTCEFTG DILRTPVSED MLGRVFNGSG KPIDKGPVVM AEDFLDINGQ PINPHSRIYP EEMIQTGISP IDVMNSIARG QKIPIFSAAG LPHNEIAAQI CRQAGLVKKS KAVLDYHDDN FAIVFAAMGV NMETARFFKS DFEQNGTMGN VCLFLNLAND PTIERIITPR LALTTAEFLA YQCEKHVLVI LTDMSSYAEA LREVSAAREE VPGRRGFPGY MYTDLATIYE RAGRVEGRGG SITQIPILTM PNDDITHPIP DLTGFITEGQ IYVDRQLHNR QIYPPINVLP SLSRLMKSAI GEGMTRKDHG DVSNQLYACY AIGKDVQAMK AVVGEEALTS EDLLYLEFLQ KFEKNFINQG PYENRSVFES LDLGWKLLRI FPKEMLKRIP QAVIDEFYSR EGALQDLAPD TAL
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. Essential for the proper assembly and activity of V-ATPase. In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification. Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium.
  • 基因功能參考文獻：
    1. RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+. PMID: 29054531
    2. The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. PMID: 30230413
    3. Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. PMID: 29024829
    4. A novel c.1169dupC frameshift mutation of ATP6V1B1 gene was identified in one family and the c.1155dupC North African mutation in 2 other families. Both mutations are located in exon 12 of ATP6V1B1 gene in Moroccan patients with recessive form of distal renal tubular acidosis associated with precocious hearing loss. PMID: 27140593
    5. The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. PMID: 28233610
    6. Our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones PMID: 26453614
    7. ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families. PMID: 25498251
    8. Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. PMID: 25285676
    9. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss PMID: 24975934
    10. demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance; propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency PMID: 25164082
    11. Rare and family-specific variants in ATP6V1B1 are responsible for distal renal tubular acidosis and sensorineural hearing loss syndrome in Turkey. PMID: 23923981
    12. Mutations of the ATP6V1B1 gene is associated with primary distal renal tubular acidosis. PMID: 23729491
    13. Three ATP6V1B1 mutations were observed: one frameshift mutation in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site in intron 2, and one novel missense mutation in exon 11. PMID: 24252324
    14. Data indicate that direct sequencing of the ATP6V1B1 gene showed one patient harbors two homozygous mutations and the other one is a compound heterozygous. PMID: 22509993
    15. Only two ATP6V1B1 mutations are found in a Cypriot population with distal renal tubular acidosis. PMID: 20805693
    16. This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. PMID: 20622307
    17. two novel mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 in distal renal tubular acidosis and hearing loss PMID: 20233014
    18. Two siblings with distal renal tubular acidosis and sensorineural deafness having mutation in the first coding exon of the ATP6V1B1 gene , resulting in a non functional protein, are reported. The parents were found to be carriers for the mutation. PMID: 19478356
    19. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. PMID: 16433694
    20. This report describes a new mutation in the ATP6V1B1 gene responsible for distal renal tubular acidosis. PMID: 17216496
    21. A mutation in ATP6V1B1 is associated with enlarged vestibular aqueduct and early onset of sensorial hearing loss. PMID: 19639346

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  • 相關疾?。?/div>
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
  • 亞細胞定位：
    Apical cell membrane. Basolateral cell membrane.
  • 蛋白家族：
    ATPase alpha/beta chains family
  • 組織特異性：
    Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level). Expressed in the cochlea and endolymphatic sac.
  • 數據庫鏈接：

    HGNC: 853

    OMIM: 192132

    KEGG: hsa:525

    STRING: 9606.ENSP00000234396

    UniGene: Hs.64173



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