Recombinant Human ATP6V1B1 protein (ab157940)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGP LVVLDRVKFAQYAEIVHFTLPDGTQ
    • Amino acids
      1 to 75
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab157940 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 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
    see all
  • 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.
  • Tissue specificity
    Expressed in the cochlea and endolymphatic sac.
  • Involvement in disease
    Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur.
  • Sequence similarities
    Belongs to the ATPase alpha/beta chains family.
  • Domain
    The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.
  • Cellular localization
    Endomembrane system. Endomembrane.
  • Information by UniProt

Images

  • ab157940 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab157940 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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