[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 4).
TISSUE=Fibroblast;
DOI=10.1038/ng0193-7; PubMed=8490659 [NCBI, ExPASy, EBI, Israel, Japan]
Vulpe C.D.,
Levinson B.,
Whitney S.,
Packman S.,
Gitschier J.;
"Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.";
Nat. Genet. 3:7-13(1993).
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[2]
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ERRATUM.
Vulpe C.D.,
Levinson B.,
Whitney S.,
Packman S.,
Gitschier J.;
Nat. Genet. 3:273-273(1993).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 4).
DOI=10.1016/0888-7543(95)80160-N; PubMed=7607665 [NCBI, ExPASy, EBI, Israel, Japan]
Tuemer Z.,
Vural B.,
Toennesen T.,
Chelly J.,
Monaco A.P.,
Horn N.;
"Characterization of the exon structure of the Menkes disease gene using vectorette PCR.";
Genomics 26:437-442(1995).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-669.
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
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.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-1447 (ISOFORM 4).
DOI=10.1006/geno.1995.1175; PubMed=7490081 [NCBI, ExPASy, EBI, Israel, Japan]
Dierick H.A.,
Ambrosini L.,
Spencer J.,
Glover T.W.,
Mercer J.F.B.;
"Molecular structure of the Menkes disease gene (ATP7A).";
Genomics 28:462-469(1995).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-626 (ISOFORM 4).
TISSUE=Kidney;
DOI=10.1038/ng0193-14; PubMed=8490646 [NCBI, ExPASy, EBI, Israel, Japan]
Chelly J.,
Tuemer Z.,
Toennesen T.,
Petterson A.,
Ishikawa-Brush Y.,
Tommerup N.,
Horn N.,
Monaco A.P.;
"Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.";
Nat. Genet. 3:14-19(1993).
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[7]
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NUCLEOTIDE SEQUENCE [MRNA] OF 12-529 (ISOFORM 4).
TISSUE=Endothelial cell;
DOI=10.1038/ng0193-20; PubMed=8490647 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Isolation of a partial candidate gene for Menkes disease by positional cloning.";
Nat. Genet. 3:20-25(1993).
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[8]
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NUCLEOTIDE SEQUENCE OF 213-437.
DOI=10.1038/35054550; PubMed=11214319 [NCBI, ExPASy, EBI, Israel, Japan]
Murphy W.J.,
Eizirik E.,
Johnson W.E.,
Zhang Y.-P.,
Ryder O.A.,
O'Brien S.J.;
"Molecular phylogenetics and the origins of placental mammals.";
Nature 409:614-618(2001).
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[9]
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NUCLEOTIDE SEQUENCE (ISOFORMS 1; 2 AND 3).
TISSUE=Colon carcinoma, and Fibroblast;
PubMed=10079814 [NCBI, ExPASy, EBI, Israel, Japan]
Harris E.D.,
Reddy M.C.,
Qian Y.,
Tiffany-Castiglioni E.,
Majumdar S.,
Nelson J.;
"Multiple forms of the Menkes Cu-ATPase.";
Adv. Exp. Med. Biol. 448:39-51(1999).
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[10]
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NUCLEOTIDE SEQUENCE (ISOFORM 3).
TISSUE=Fibroblast;
PubMed=9693104 [NCBI, ExPASy, EBI, Israel, Japan]
Reddy M.C.,
Harris E.D.;
"Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.";
Biochem. J. 334:71-77(1998).
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[11]
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ALTERNATIVE SPLICING (ISOFORM 5), AND SUBCELLULAR LOCATION.
DOI=10.1093/hmg/7.3.465; PubMed=9467005 [NCBI, ExPASy, EBI, Israel, Japan]
Qi M.,
Byers P.H.;
"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).
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[12]
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ALTERNATIVE SPLICING (ISOFORM 6).
TISSUE=Neuroblastoma;
DOI=10.1042/0264-6021:3500855; PubMed=10970802 [NCBI, ExPASy, EBI, Israel, Japan]
Reddy M.C.,
Majumdar S.,
Harris E.D.;
"Evidence for a Menkes-like protein with a nuclear targeting sequence.";
Biochem. J. 350:855-863(2000).
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[13]
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SUBCELLULAR LOCATION.
DOI=10.1093/hmg/6.3.409; PubMed=9147644 [NCBI, ExPASy, EBI, Israel, Japan]
Dierick H.A.,
Adam A.N.,
Escara-Wilke J.F.,
Glover T.W.;
"Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.";
Hum. Mol. Genet. 6:409-416(1997).
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[14]
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SUBCELLULAR LOCATION, AND MUTAGENESIS OF LEUCINE RESIDUES.
DOI=10.1093/hmg/8.11.2107; PubMed=10484781 [NCBI, ExPASy, EBI, Israel, Japan]
Petris M.J.,
Mercer J.F.B.;
"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).
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[15]
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STRUCTURE BY NMR OF 375-446.
DOI=10.1038/nsb0198-47; PubMed=9437429 [NCBI, ExPASy, EBI, Israel, Japan]
Gitschier J.,
Moffat B.,
Reilly D.,
Wood W.I.,
Fairbrother W.J.;
"Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.";
Nat. Struct. Biol. 5:47-54(1998).
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[16]
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REVIEW, AND VARIANTS MNKD.
PubMed=10079817 [NCBI, ExPASy, EBI, Israel, Japan]
Tuemer Z.,
Moeller L.B.,
Horn N.;
"Mutation spectrum of ATP7A, the gene defective in Menkes disease.";
Adv. Exp. Med. Biol. 448:83-95(1999).
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[17]
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VARIANT LEU-767, AND VARIANT MNKD ARG-1302.
PubMed=7977350 [NCBI, ExPASy, EBI, Israel, Japan]
Das S.,
Levinson B.,
Whitney S.,
Vulpe C.,
Packman S.,
Gitschier J.;
"Diverse mutations in patients with Menkes disease often lead to exon skipping.";
Am. J. Hum. Genet. 55:883-889(1994).
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[18]
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VARIANTS MNKD PRO-629; ARG-727; PRO-1006 AND ASP-1019.
PubMed=8981948 [NCBI, ExPASy, EBI, Israel, Japan]
Tuemer Z.,
Lund C.,
Tolshave J.,
Vural B.,
Toennesen T.,
Horn N.;
"Identification of point mutations in 41 unrelated patients affected with Menkes disease.";
Am. J. Hum. Genet. 60:63-71(1997).
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[19]
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VARIANT OHS LEU-637.
PubMed=9246006 [NCBI, ExPASy, EBI, Israel, Japan]
Ronce N.,
Moizard M.P.,
Robb L.,
Toutain A.,
Villard L.,
Moraine C.;
"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).
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[20]
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VARIANT MNKD VAL-1362.
DOI=10.1093/hmg/8.8.1547; PubMed=10401004 [NCBI, ExPASy, EBI, Israel, Japan]
Ambrosini L.,
Mercer J.F.B.;
"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).
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[21]
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VARIANT MNKD ARG-873.
DOI=10.1007/s100380050144; PubMed=10319589 [NCBI, ExPASy, EBI, Israel, Japan]
Ogawa A.,
Yamamoto S.,
Takayanagi M.,
Kogo T.,
Kanazawa M.,
Kohno Y.;
"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).
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[22]
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INVOLVEMENT IN OCCIPITAL HORN SYNDROME.
DOI=10.1086/321290; PubMed=11431706 [NCBI, ExPASy, EBI, Israel, Japan]
Dagenais S.L.,
Adam A.N.,
Innis J.W.,
Glover T.W.;
"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).
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[23]
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VARIANTS MNKD ARG-1344 AND PHE-1345.
DOI=10.1002/1096-8628(2001)9999:9999<::AID-AJMG1167>3.0.CO;2-R; PubMed=11241493 [NCBI, ExPASy, EBI, Israel, Japan]
Gu Y.-H.,
Kodama H.,
Murata Y.,
Mochizuki D.,
Yanagawa Y.,
Ushijima H.,
Shiba T.,
Lee C.-C.;
"ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.";
Am. J. Med. Genet. 99:217-222(2001).
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[24]
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VARIANTS MNKD ARG-706; ASP-1118 AND ARG-1255.
DOI=10.1006/mgme.2001.3169; PubMed=11350187 [NCBI, ExPASy, EBI, Israel, Japan]
Hahn S.,
Cho K.,
Ryu K.,
Kim J.,
Pai K.,
Kim M.,
Park H.,
Yoo O.;
"Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.";
Mol. Genet. Metab. 73:86-90(2001).
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[25]
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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.
DOI=10.1002/humu.20190; PubMed=15981243 [NCBI, ExPASy, EBI, Israel, Japan]
Moeller L.B.,
Bukrinsky J.T.,
Moelgaard A.,
Paulsen M.,
Lund C.,
Tuemer Z.,
Larsen S.,
Horn N.;
"Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.";
Hum. Mutat. 26:84-93(2005).
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