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Signal Transduction Metabolism Plasma Membrane ATPases
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Recombinant Human ATP7A protein (ab114343)

  • Datasheet
  • SDS
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SDS-PAGE - Recombinant Human ATP7A protein (ab114343)

    Key features and details

    • Expression system: Wheat germ
    • Suitable for: ELISA, SDS-PAGE, WB

    Description

    • Product name

      Recombinant Human ATP7A protein
    • Expression system

      Wheat germ
    • Accession

      Q04656
    • Protein length

      Protein fragment
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        FLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDR IVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL
      • Predicted molecular weight

        36 kDa including tags
      • Amino acids

        1406 to 1500

    Associated products

    • Related Products

      • Anti-ATP7A antibody (ab13995)

    Specifications

    Our Abpromise guarantee covers the use of ab114343 in the following tested applications.

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

    • Applications

      ELISA

      SDS-PAGE

      Western blot

    • Form

      Liquid
    • 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: 0.3% Glutathione, 0.79% Tris HCl

    General Info

    • Alternative names

      • ATP 7A
      • ATP7A
      • ATP7A_HUMAN
      • ATPase copper transporting alpha polypeptide
      • ATPase Cu++ transporting alpha polypeptide
      • ATPase Cu++ transporting alpha polypeptide (Menkes syndrome)
      • Copper pump 1
      • Copper transporting ATPase 1
      • Copper-transporting ATPase 1
      • Cu++ transporting P type ATPase
      • DSMAX
      • FLJ17790
      • MC 1
      • MC1
      • Menkes disease associated protein
      • Menkes disease-associated protein
      • Menkes syndrome
      • MK
      • MNK
      • OHS
      • OTTHUMP00000062077
      • SMAX3
      see all
    • Function

      May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.
    • Tissue specificity

      Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.
    • Involvement in disease

      Defects in ATP7A are the cause of Menkes disease (MNKD) [MIM:309400]; also known as kinky hair disease. MNKD is an X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes.
      Defects in ATP7A are the cause of occipital horn syndrome (OHS) [MIM:304150]; also known as X-linked cutis laxa. OHS is an X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.
      Defects in ATP7A are a cause of distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]. DSMAX3 is a neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
    • Sequence similarities

      Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
      Contains 6 HMA domains.
    • Domain

      The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
    • Cellular localization

      Endoplasmic reticulum; Cytoplasm > cytosol and Golgi apparatus > trans-Golgi network membrane. Cell membrane. Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.
    • Target information above from: UniProt accession Q04656 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human ATP7A protein (ab114343)
      SDS-PAGE - Recombinant Human ATP7A protein (ab114343)
      ab114343 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • SDS download

    • Datasheet download

      Download

    References (0)

    Publishing research using ab114343? Please let us know so that we can cite the reference in this datasheet.

    ab114343 has not yet been referenced specifically in any publications.

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