ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a)

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MK; MNK; MC1; Menkes Syndrome; Copper pump 1; Copper-transporting ATPase 1; Menkes disease-associated protein

ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a)
ATP7A provides instructions to make a protein that is important for regulating copper levels in the body. This protein is found in most tissues, but it is absent from the liver. In the small intestine, the ATP7A protein helps control the absorption of copper from food. In other organs and tissues, the ATP7A protein has a dual role and shuttles between two locations within the cell. The protein normally resides in a cell structure called the Golgi apparatus, which modifies and transports newly produced enzymes and other proteins. Here, the ATP7A protein supplies copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. If copper levels in the cell environment are elevated, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG385Hu01 Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG385Mu01 Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) ELISA Kit Customized Service Offer
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  2. ErratumNat. Genet. 3:273-273(1993)
  3. "Characterization of the exon structure of the Menkes disease gene using vectorette PCR."Genomics 26:437-442(1995) [PubMed] [Europe PMC] [Abstract]
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  5. "Multiple forms of the Menkes Cu-ATPase."Adv. Exp. Med. Biol. 448:39-51(1999) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
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  8. "Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein."Nat. Genet. 3:14-19(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Isolation of a partial candidate gene for Menkes disease by positional cloning."Nat. Genet. 3:20-25(1993) [PubMed] [Europe PMC] [Abstract]
  10. "Molecular phylogenetics and the origins of placental mammals."Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
  11. "Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome."Hum. Mol. Genet. 7:465-469(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Evidence for a Menkes-like protein with a nuclear targeting sequence."Biochem. J. 350:855-863(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network."Hum. Mol. Genet. 6:409-416(1997) [PubMed] [Europe PMC] [Abstract]
  14. "The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal."Hum. Mol. Genet. 8:2107-2115(1999) [PubMed] [Europe PMC] [Abstract]
  15. "A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis."J. Biol. Chem. 280:33270-33279(2005) [PubMed] [Europe PMC] [Abstract]
  16. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  18. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  19. "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase."Nat. Struct. Biol. 5:47-54(1998) [PubMed] [Europe PMC] [Abstract]
  20. "Mutation spectrum of ATP7A, the gene defective in Menkes disease."Adv. Exp. Med. Biol. 448:83-95(1999) [PubMed] [Europe PMC] [Abstract]
  21. "Diverse mutations in patients with Menkes disease often lead to exon skipping."Am. J. Hum. Genet. 55:883-889(1994) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of point mutations in 41 unrelated patients affected with Menkes disease."Am. J. Hum. Genet. 60:63-71(1997) [PubMed] [Europe PMC] [Abstract]
  23. "A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family."Am. J. Hum. Genet. 61:233-238(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease."Hum. Mol. Genet. 8:1547-1555(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease."J. Hum. Genet. 44:206-209(1999) [PubMed] [Europe PMC] [Abstract]
  26. "A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease."Am. J. Hum. Genet. 69:420-427(2001) [PubMed] [Europe PMC] [Abstract]
  27. "ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome."Am. J. Med. Genet. 99:217-222(2001) [PubMed] [Europe PMC] [Abstract]
  28. "Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis."Mol. Genet. Metab. 73:86-90(2001) [PubMed] [Europe PMC] [Abstract]
  29. "Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A."Hum. Mutat. 26:84-93(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Functional copper transport explains neurologic sparing in occipital horn syndrome."Genet. Med. 8:711-718(2006) [PubMed] [Europe PMC] [Abstract]
  31. "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy." Am. J. Hum. Genet. 86:343-352(2010) [PubMed] [Europe PMC] [Abstract]
  32. "The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation."BMC Pediatr. 12:150-150(2012) [PubMed] [Europe PMC] [Abstract]