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Index > Protein center > ATP7A(Gene name) > Human
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  • ATP7A (Gene name),
  • Copper-transporting ATPase 1 (Protein name ),  ATP7A_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    ATP7A(MC1;MNK);
    Protein name:
    Copper-transporting ATPase 1;
    Alternative:
    Copper pump 1;Menkes disease-associated protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Monomer.
    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.
    Subcellular Location:
    Isoform 5 Endoplasmic reticulum
    Protein Attributes:
    Sequence length:
    1500
    Sequence:
    50:
    MDPSMGVNSV | TISVEGMTCN | SCVWTIEQQI | GKVNGVHHIK | VSLEEKNATI | 
    100:
    IYDPKLQTPK | TLQEAIDDMG | FDAVIHNPDP | LPVLTDTLFL | TVTASLTLPW | 
    150:
    DHIQSTLLKT | KGVTDIKIYP | QKRTVAVTII | PSIVNANQIK | ELVPELSLDT | 
    200:
    GTLEKKSGAC | EDHSMAQAGE | VVLKMKVEGM | TCHSCTSTIE | GKIGKLQGVQ | 
    250:
    RIKVSLDNQE | ATIVYQPHLI | SVEEMKKQIE | AMGFPAFVKK | QPKYLKLGAI | 
    300:
    DVERLKNTPV | KSSEGSQQRS | PSYTNDSTAT | FIIDGMHCKS | CVSNIESTLS | 
    350:
    ALQYVSSIVV | SLENRSAIVK | YNASSVTPES | LRKAIEAVSP | GLYRVSITSE | 
    400:
    VESTSNSPSS | SSLQKIPLNV | VSQPLTQETV | INIDGMTCNS | CVQSIEGVIS | 
    450:
    KKPGVKSIRV | SLANSNGTVE | YDPLLTSPET | LRGAIEDMGF | DATLSDTNEP | 
    500:
    LVVIAQPSSE | MPLLTSTNEF | YTKGMTPVQD | KEEGKNSSKC | YIQVTGMTCA | 
    550:
    SCVANIERNL | RREEGIYSIL | VALMAGKAEV | RYNPAVIQPP | MIAEFIRELG | 
    600:
    FGATVIENAD | EGDGVLELVV | RGMTCASCVH | KIESSLTKHR | GILYCSVALA | 
    650:
    TNKAHIKYDP | EIIGPRDIIH | TIESLGFEAS | LVKKDRSASH | LDHKREIRQW | 
    700:
    RRSFLVSLFF | CIPVMGLMIY | MMVMDHHFAT | LHHNQNMSKE | EMINLHSSMF | 
    750:
    LERQILPGLS | VMNLLSFLLC | VPVQFFGGWY | FYIQAYKALK | HKTANMDVLI | 
    800:
    VLATTIAFAY | SLIILLVAMY | ERAKVNPITF | FDTPPMLFVF | IALGRWLEHI | 
    850:
    AKGKTSEALA | KLISLQATEA | TIVTLDSDNI | LLSEEQVDVE | LVQRGDIIKV | 
    900:
    VPGGKFPVDG | RVIEGHSMVD | ESLITGEAMP | VAKKPGSTVI | AGSINQNGSL | 
    950:
    LICATHVGAD | TTLSQIVKLV | EEAQTSKAPI | QQFADKLSGY | FVPFIVFVSI | 
    1000:
    ATLLVWIVIG | FLNFEIVETY | FPGYNRSISR | TETIIRFAFQ | ASITVLCIAC | 
    1050:
    PCSLGLATPT | AVMVGTGVGA | QNGILIKGGE | PLEMAHKVKV | VVFDKTGTIT | 
    1100:
    HGTPVVNQVK | VLTESNRISH | HKILAIVGTA | ESNSEHPLGT | AITKYCKQEL | 
    1150:
    DTETLGTCID | FQVVPGCGIS | CKVTNIEGLL | HKNNWNIEDN | NIKNASLVQI | 
    1200:
    DASNEQSSTS | SSMIIDAQIS | NALNAQQYKV | LIGNREWMIR | NGLVINNDVN | 
    1250:
    DFMTEHERKG | RTAVLVAVDD | ELCGLIAIAD | TVKPEAELAI | HILKSMGLEV | 
    1300:
    VLMTGDNSKT | ARSIASQVGI | TKVFAEVLPS | HKVAKVKQLQ | EEGKRVAMVG | 
    1350:
    DGINDSPALA | MANVGIAIGT | GTDVAIEAAD | VVLIRNDLLD | VVASIDLSRE | 
    1400:
    TVKRIRINFV | FALIYNLVGI | PIAAGVFMPI | GLVLQPWMGS | AAMAASSVSV | 
    1450:
    VLSSLFLKLY | RKPTYESYEL | PARSQIGQKS | PSEISVHVGI | DDTSRNSPKL | 
    1500:
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    Pfam:
    SMR:
    UniGene:
    KEGG:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human Copper-transporting ATPase 1
    Cat.:
    E15035h
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    Packing:
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    ELISA Kit for Human Copper-transporting ATPase 1
    MSDS:
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    ELISA Kit for Human Copper-transporting ATPase 1
    MSDS:
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    CLIA Kit for Human Copper-transporting ATPase 1
    MSDS:
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    CLIA Kit for Human Copper-transporting ATPase 1
    MSDS:
    Please sign in first.
    CLIA Kit for Human Copper-transporting ATPase 1
    Cat.:
    U15035h
    Price:
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Copper-transporting ATPase 1
    Polyclonal Antibody for Human Copper-transporting ATPase 1
    Polyclonal Antibody for Human Copper-transporting ATPase 1
    Monoclonal Antibody for Human Copper-transporting ATPase 1
    Monoclonal Antibody for Human Copper-transporting ATPase 1
    Monoclonal Antibody for Human Copper-transporting ATPase 1
    Protein for Human Copper-transporting ATPase 1
    Protein for Human Copper-transporting ATPase 1
    Protein for Human Copper-transporting ATPase 1

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase."
      Vulpe C.D. , Levinson B. , Whitney S. , Packman S. , Gitschier J.
      Nat. Genet.3:7-13(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);VARIANT THR-669
      tissue: Fibroblast.
    2. 2.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    3. 3.
      "Characterization of the exon structure of the Menkes disease gene using vectorette PCR."
      Tuemer Z. , Vural B. , Toennesen T. , Chelly J. , Monaco A.P. , Horn N.
      Genomics26:437-442(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 4);VARIANT THR-669
    4. 4.
      "Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA."
      Reddy M.C. , Harris E.D.
      Biochem. J.334:71-77(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)
      tissue: Fibroblast.
    5. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3)
      tissue: Colon carcinoma.
      tissue: Fibroblast.
    6. 6.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    7. 7.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    8. 8.
      "Molecular structure of the Menkes disease gene (ATP7A)."
      Dierick H.A. , Ambrosini L. , Spencer J. , Glover T.W. , Mercer J.F.B.
      Genomics28:462-469(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-1447 (ISOFORM 4)
    9. 9.
      "Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein."
      Chelly J. , Tuemer Z. , Toennesen T. , Petterson A. , Ishikawa-Brush Y. , Tommerup N. , Horn N. , Monaco A.P.
      Nat. Genet.3:14-19(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-626 (ISOFORM 4)
      tissue: Kidney.
    10. 10.
      "Isolation of a partial candidate gene for Menkes disease by positional cloning."
      Mercer J.F.B. , Livingston J. , Hall B. , Paynter J.A. , Begy C. , Chandrasekharappa S. , Lockhart P. , Grimes A. , Bhave M. , Siemieniak D. , Glover T.W.
      Nat. Genet.3:20-25(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 12-529 (ISOFORM 4)
      tissue: Endothelial cell.
    11. 11.
      "Molecular phylogenetics and the origins of placental mammals."
      Murphy W.J. , Eizirik E. , Johnson W.E. , Zhang Y.-P. , Ryder O.A. , O'Brien S.J.
      Nature409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 213-437
    12. 12.
      "Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome."
      Qi M. , Byers P.H.
      Hum. Mol. Genet.7:465-469(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORM 5);SUBCELLULAR LOCATION
    13. 13.
      "Evidence for a Menkes-like protein with a nuclear targeting sequence."
      Reddy M.C. , Majumdar S. , Harris E.D.
      Biochem. J.350:855-863(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORM 6)
      tissue: Neuroblastoma.
    14. 14.
      "Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network."
      Dierick H.A. , Adam A.N. , Escara-Wilke J.F. , Glover T.W.
      Hum. Mol. Genet.6:409-416(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    15. 15.
      "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."
      Petris M.J. , Mercer J.F.B.
      Hum. Mol. Genet.8:2107-2115(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;MUTAGENESIS OF LEUCINE RESIDUES
    16. 16.
      "A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis."
      Stephenson S.E. , Dubach D. , Lim C.M. , Mercer J.F. , La Fontaine S.
      J. Biol. Chem.280:33270-33279(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PDZD11
    17. 17.
      "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
      Sci. Signal.2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Leukemic T-cell.
    18. 18.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-339;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    19. 19.
      "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase."
      Gitschier J. , Moffat B. , Reilly D. , Wood W.I. , Fairbrother W.J.
      Nat. Struct. Biol.5:47-54(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 375-446
    20. 20.
      "Mutation spectrum of ATP7A, the gene defective in Menkes disease."
      Tuemer Z. , Moeller L.B. , Horn N.
      Adv. Exp. Med. Biol.448:83-95(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW;VARIANTS MNKD
    21. 21.
      "Diverse mutations in patients with Menkes disease often lead to exon skipping."
      Das S. , Levinson B. , Whitney S. , Vulpe C. , Packman S. , Gitschier J.
      Am. J. Hum. Genet.55:883-889(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LEU-767;VARIANT MNKD ARG-1302
    22. 22.
      "Identification of point mutations in 41 unrelated patients affected with Menkes disease."
      Tuemer Z. , Lund C. , Tolshave J. , Vural B. , Toennesen T. , Horn N.
      Am. J. Hum. Genet.60:63-71(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MNKD PRO-629; ARG-727; PRO-1006 AND ASP-1019
    23. 23.
      "A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family."
      Ronce N. , Moizard M.P. , Robb L. , Toutain A. , Villard L. , Moraine C.
      Am. J. Hum. Genet.61:233-238(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OHS LEU-637
    24. 24.
      "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease."
      Ambrosini L. , Mercer J.F.B.
      Hum. Mol. Genet.8:1547-1555(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MNKD VAL-1362
    25. 25.
      "Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease."
      Ogawa A. , Yamamoto S. , Takayanagi M. , Kogo T. , Kanazawa M. , Kohno Y.
      J. Hum. Genet.44:206-209(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MNKD ARG-873
    26. 26.
      "A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease."
      Dagenais S.L. , Adam A.N. , Innis J.W. , Glover T.W.
      Am. J. Hum. Genet.69:420-427(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN OCCIPITAL HORN SYNDROME
    27. 27.
      "ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome."
      Gu Y.-H. , Kodama H. , Murata Y. , Mochizuki D. , Yanagawa Y. , Ushijima H. , Shiba T. , Lee C.-C.
      Am. J. Med. Genet.99:217-222(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MNKD ARG-1344 AND PHE-1345
    28. 28.
      "Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis."
      Hahn S. , Cho K. , Ryu K. , Kim J. , Pai K. , Kim M. , Park H. , Yoo O.
      Mol. Genet. Metab.73:86-90(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MNKD ARG-706; ASP-1118 AND ARG-1255
    29. 29.
      "Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A."
      Moeller L.B. , Bukrinsky J.T. , Moelgaard A. , Paulsen M. , Lund C. , Tuemer Z. , Larsen S. , Horn N.
      Hum. Mutat.26:84-93(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MNKD HIS-844; ARG-853; VAL-860; ARG-876; GLU-876; ARG-924; ARG-1000; VAL-1007; ASP-1015; GLY-1044; PRO-1100; GLU-1282; GLU-1300; VAL-1302; LYS-1304; ALA-1305; ARG-1315; VAL-1325; ARG-1369 AND PHE-1397
    30. 30.
      "Functional copper transport explains neurologic sparing in occipital horn syndrome."
      Tang J. , Robertson S. , Lem K.E. , Godwin S.C. , Kaler S.G.
      Genet. Med.8:711-718(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OHS SER-1304;CHARACTERIZATION OF VARIANT OHS SER-1304
    31. 31.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSMAX3 ILE-994 AND SER-1386;CHARACTERIZATION OF VARIANTS DSMAX3 ILE-994 AND SER-1386
    32. 32.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MNKD ILE-1048
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