Property Summary

NCBI Gene PubMed Count 140
Grant Count 171
R01 Count 99
Funding $13,807,159.34
PubMed Score 521.18
PubTator Score 346.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
urothelial carcinoma -1.200 0.004
psoriasis -3.000 0.000
osteosarcoma -2.773 0.000
glioblastoma 1.200 0.000
medulloblastoma 1.400 0.000
atypical teratoid / rhabdoid tumor 1.300 0.000
primitive neuroectodermal tumor 1.300 0.002
tuberculosis -1.300 0.000
intraductal papillary-mucinous adenoma (... 1.800 0.002
intraductal papillary-mucinous carcinoma... 1.300 0.019
lung cancer -1.800 0.000
interstitial cystitis -1.100 0.000
pilocytic astrocytoma 1.500 0.000
subependymal giant cell astrocytoma 2.334 0.010
Pick disease 1.200 0.002
Breast cancer -1.200 0.000
acute myeloid leukemia -1.600 0.027
ovarian cancer -2.200 0.000
pituitary cancer -1.100 0.031

Synonym

Accession Q04656 B1AT72 O00227 O00745 Q9BYY8
Symbols MK
MNK
DSMAX
SMAX3

Gene

PANTHER Protein Class (2)

PDB

2K1R   3CJK   1AW0   1KVI   1KVJ   1Q8L   1S6O   1S6U   1Y3J   1Y3K   1YJR   1YJT   1YJU   1YJV   2AW0   2G9O   2GA7   2KIJ   2KMV   2KMX  

Gene RIF (85)

PMID Text
26879543 Upon neuronal differentiation, transitions in redox states upregulates expression of ATOX1 and its partner ATP7A, producing higher flux of copper through the secretory pathway.
26437801 Cu chaperone function of Atox1 mediated through Cu transporter ATP7A is required for VEGF-induced angiogenesis via activation of Cu enzyme lysyl oxidase.
25574028 we demonstrate here that (1) AP complexes 1 and 2 of the CCV traffic machinery physically interact with ATP7A.
25355947 Depletion of CCC complex components leads to lack of copper-dependent movement of the copper transporter ATP7A from endosomes, resulting in intracellular copper accumulation and modest alterations in copper homeostasis in humans with CCDC22 mutations.
25172213 Data suggest that even small amounts of functional ATP7A in subjects with genetic diseases associated with mutant ATP7A result in milder phenotypes; this includes Menkes disease, occipital horn syndrome, and X-linked distal motor neuropathy. [REVIEW]
24927440 Normal male karyotypes without c.3914A>G mutation on ATP7A gene was showed. Postnatal genetic analysis and normal development confirmed the prenatal diagnosis.
24919650 A total of 11 different ATP7A mutations were identified in the 11 Korean families tested: 3 frameshift, 2 nonsense, 3 large deletions, 2 splice-site, and 1 missense mutation.
24882692 This study demonstrated that G727R missense mutation may be relatively common in Korea.
24754450 Two mutations in the copper transporter ATP7A (ATP7A-T994I and ATP7A P1386S-) lead to isolated distal motor neuropathy
24735419 this article reviews the history and evolution of our understanding of disorders caused by impaired ATP7A function, and outline future challenges. [review]
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AA Sequence

MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMG      1 - 70
FDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIK     71 - 140
ELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQE    141 - 210
ATIVYQPHLISVEEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTAT    211 - 280
FIIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSE    281 - 350
VESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE    351 - 420
YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKC    421 - 490
YIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENAD    491 - 560
EGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEAS    561 - 630
LVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMF    631 - 700
LERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMY    701 - 770
ERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE    771 - 840
LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGAD    841 - 910
TTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISR    911 - 980
TETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTIT    981 - 1050
HGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGIS   1051 - 1120
CKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIR   1121 - 1190
NGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT   1191 - 1260
ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAAD   1261 - 1330
VVLIRNDLLDVVASIDLSRETVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSV   1331 - 1400
VLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSD   1401 - 1470
KRSLNSVVTSEPDKHSLLVGDFREDDDTAL                                           1471 - 1500
//

Text Mined References (143)

PMID Year Title
26879543 2016 Neuronal differentiation is associated with a redox-regulated increase of copper flow to the secretory pathway.
26437801 2015 Copper Transport Protein Antioxidant-1 Promotes Inflammatory Neovascularization via Chaperone and Transcription Factor Function.
25574028 2015 Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
25355947 2015 COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.
25172213 2015 Small amounts of functional ATP7A protein permit mild phenotype.
24927440 2014 [Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
24919650 2015 Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
24882692 2015 Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
24754450 2014 ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
24735419 2014 Translational research investigations on ATP7A: an important human copper ATPase.
More...