Details for: ATP7A
Associated with
Other Information
Genular Protein ID: 715975783
Symbol: ATP7A_HUMAN
Name: Copper-transporting ATPase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8490659
Title: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
PubMed ID: 8490659
DOI: 10.1038/ng0193-7
PubMed ID: 7607665
Title: Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
PubMed ID: 7607665
PubMed ID: 9693104
Title: Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.
PubMed ID: 9693104
DOI: 10.1042/bj3340071
PubMed ID: 10079814
PubMed ID: 15772651
PubMed ID: 7490081
Title: Molecular structure of the Menkes disease gene (ATP7A).
PubMed ID: 7490081
PubMed ID: 8490646
Title: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
PubMed ID: 8490646
DOI: 10.1038/ng0193-14
PubMed ID: 8490647
Title: Isolation of a partial candidate gene for Menkes disease by positional cloning.
PubMed ID: 8490647
DOI: 10.1038/ng0193-20
PubMed ID: 11214319
Title: Molecular phylogenetics and the origins of placental mammals.
PubMed ID: 11214319
DOI: 10.1038/35054550
PubMed ID: 9467005
Title: Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
PubMed ID: 9467005
DOI: 10.1093/hmg/7.3.465
PubMed ID: 10970802
Title: Evidence for a Menkes-like protein with a nuclear targeting sequence.
PubMed ID: 10970802
DOI: 10.1042/bj3500855
PubMed ID: 9147644
Title: Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.
PubMed ID: 9147644
DOI: 10.1093/hmg/6.3.409
PubMed ID: 10484781
Title: 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.
PubMed ID: 10484781
PubMed ID: 10419525
Title: Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells.
PubMed ID: 10419525
PubMed ID: 11092760
Title: The Menkes copper transporter is required for the activation of tyrosinase.
PubMed ID: 11092760
PubMed ID: 16051599
Title: A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.
PubMed ID: 16051599
PubMed ID: 16371425
Title: Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress.
PubMed ID: 16371425
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21667063
Title: The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
PubMed ID: 21667063
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 9437429
Title: Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.
PubMed ID: 9437429
DOI: 10.1038/nsb0198-47
PubMed ID: 19453293
Title: Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces.
PubMed ID: 19453293
DOI: 10.1042/bj20090422
PubMed ID: 19917612
Title: The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A.
PubMed ID: 19917612
PubMed ID: 31283225
Title: Mechanistic and Structural Basis for Inhibition of Copper Trafficking by Platinum Anticancer Drugs.
PubMed ID: 31283225
DOI: 10.1021/jacs.9b05550
PubMed ID: 10079817
Title: Mutation spectrum of ATP7A, the gene defective in Menkes disease.
PubMed ID: 10079817
PubMed ID: 7977350
Title: Diverse mutations in patients with Menkes disease often lead to exon skipping.
PubMed ID: 7977350
PubMed ID: 8981948
Title: Identification of point mutations in 41 unrelated patients affected with Menkes disease.
PubMed ID: 8981948
PubMed ID: 9246006
Title: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
PubMed ID: 9246006
PubMed ID: 10401004
Title: Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
PubMed ID: 10401004
DOI: 10.1093/hmg/8.8.1547
PubMed ID: 10319589
Title: Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.
PubMed ID: 10319589
PubMed ID: 11431706
Title: A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
PubMed ID: 11431706
DOI: 10.1086/321290
PubMed ID: 11241493
Title: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
PubMed ID: 11241493
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r
PubMed ID: 11350187
Title: Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
PubMed ID: 11350187
PubMed ID: 15981243
Title: Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
PubMed ID: 15981243
DOI: 10.1002/humu.20190
PubMed ID: 17108763
Title: Functional copper transport explains neurologic sparing in occipital horn syndrome.
PubMed ID: 17108763
PubMed ID: 20170900
Title: Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
PubMed ID: 20170900
PubMed ID: 22992316
Title: The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
PubMed ID: 22992316
PubMed ID: 28389643
Title: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
PubMed ID: 28389643
Sequence Information:
- Length: 1500
- Mass: 163373
- Checksum: A54F17EA08FDACDB
- Sequence:
MDPSMGVNSV TISVEGMTCN SCVWTIEQQI GKVNGVHHIK VSLEEKNATI IYDPKLQTPK TLQEAIDDMG FDAVIHNPDP LPVLTDTLFL TVTASLTLPW DHIQSTLLKT KGVTDIKIYP QKRTVAVTII PSIVNANQIK ELVPELSLDT GTLEKKSGAC EDHSMAQAGE VVLKMKVEGM TCHSCTSTIE GKIGKLQGVQ RIKVSLDNQE ATIVYQPHLI SVEEMKKQIE AMGFPAFVKK QPKYLKLGAI DVERLKNTPV KSSEGSQQRS PSYTNDSTAT FIIDGMHCKS CVSNIESTLS ALQYVSSIVV SLENRSAIVK YNASSVTPES LRKAIEAVSP GLYRVSITSE VESTSNSPSS SSLQKIPLNV VSQPLTQETV INIDGMTCNS CVQSIEGVIS KKPGVKSIRV SLANSNGTVE YDPLLTSPET LRGAIEDMGF DATLSDTNEP LVVIAQPSSE MPLLTSTNEF YTKGMTPVQD KEEGKNSSKC YIQVTGMTCA SCVANIERNL RREEGIYSIL VALMAGKAEV RYNPAVIQPP MIAEFIRELG FGATVIENAD EGDGVLELVV RGMTCASCVH KIESSLTKHR GILYCSVALA TNKAHIKYDP EIIGPRDIIH TIESLGFEAS LVKKDRSASH LDHKREIRQW RRSFLVSLFF CIPVMGLMIY MMVMDHHFAT LHHNQNMSKE EMINLHSSMF LERQILPGLS VMNLLSFLLC VPVQFFGGWY FYIQAYKALK HKTANMDVLI VLATTIAFAY SLIILLVAMY ERAKVNPITF FDTPPMLFVF IALGRWLEHI AKGKTSEALA KLISLQATEA TIVTLDSDNI LLSEEQVDVE LVQRGDIIKV VPGGKFPVDG RVIEGHSMVD ESLITGEAMP VAKKPGSTVI AGSINQNGSL LICATHVGAD TTLSQIVKLV EEAQTSKAPI QQFADKLSGY FVPFIVFVSI ATLLVWIVIG FLNFEIVETY FPGYNRSISR TETIIRFAFQ ASITVLCIAC PCSLGLATPT AVMVGTGVGA QNGILIKGGE PLEMAHKVKV VVFDKTGTIT HGTPVVNQVK VLTESNRISH HKILAIVGTA ESNSEHPLGT AITKYCKQEL DTETLGTCID FQVVPGCGIS CKVTNIEGLL HKNNWNIEDN NIKNASLVQI DASNEQSSTS SSMIIDAQIS NALNAQQYKV LIGNREWMIR NGLVINNDVN DFMTEHERKG RTAVLVAVDD ELCGLIAIAD TVKPEAELAI HILKSMGLEV VLMTGDNSKT ARSIASQVGI TKVFAEVLPS HKVAKVKQLQ EEGKRVAMVG DGINDSPALA MANVGIAIGT GTDVAIEAAD VVLIRNDLLD VVASIDLSRK TVKRIRINFV FALIYNLVGI PIAAGVFMPI GLVLQPWMGS AAMAASSVSV VLSSLFLKLY RKPTYESYEL PARSQIGQKS PSEISVHVGI DDTSRNSPKL GLLDRIVNYS RASINSLLSD KRSLNSVVTS EPDKHSLLVG DFREDDDTAL
Genular Protein ID: 3897435048
Symbol: B4DRW0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 488
- Mass: 52494
- Checksum: 372107CF0324AE75
- Sequence:
MVGTGVGAQN GILIKGGEPL EMAHKVKVVV FDKTGTITHG TPVVNQVKVL TESNRISHHK ILAIVGTAES NSEHPLGTAI TKYCKQELDT ETLGTCIDFQ VVPGCGISCK VTNIEGLLHK NNWNIEDNNI KNASLVQIDA SNEQSSTSSS MIIDAQISNA LNAQQYKVLI GNREWMIRNG LVINNDVNDF MTEHERKGRT AVLVAVDDEL CGLIAIADTV KPEAELAIHI LKSMGLEVVL MTGDNSKTAR SIASQVGITK VFAEVLPSHK VAKVKQLQEE GKRVAMVGDG INDSPALAMA NVGIAIGTGT DVAIEAADVV LIRNDLLDVV ASIDLSRKTV KRIRINFVFA LIYNLVGIPI AAGVFMPIGL VLQPWMGSAA MAASSVSVVL SSLFLKLYRK PTYESYELPA RSQIGQKSPS EISVHVGIDD TSRNSPKLGL LDRIVNYSRA SINSLLSDKR SLNSVVTSEP DKHSLLVGDF REDDDTAL
Genular Protein ID: 1221986320
Symbol: Q762B6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 274
- Mass: 30124
- Checksum: 1233AE33CD302122
- Sequence:
MDPSMGVNSV TISVEGMTCN SCVWTIEQQI GKVNGVHHIK VSLEEKNATI IYDPKLQTPK TLQEAIDDMG FDAVIHNPDP LPVLTDTLFL TVTASLTLPW DHIQSTLLKT KGVTDIKIYP QKRTVAVTII PSIVNANQIK ELVPELSLDT GTLEKKSGAC EDHSMAQAGE VVLKMKVEGM TCHSCTSTIE GKIGKLQGVQ RIKVSLDNQE ATIVYQPHLI SVEEMKKQIE AMGFPAFVKK QPKYLKLGAI DVERLKNTPV KSSEGSQQRS PSYQ
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.