[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT DYT1 GLU-303 DEL, AND VARIANT HIS-264.
TISSUE=Brain cortex, Hippocampus, and Substantia nigra;
DOI=10.1038/ng0997-40; PubMed=9288096 [NCBI, ExPASy, EBI, Israel, Japan]
Ozelius L.J.,
Hewett J.W.,
Page C.E.,
Bressman S.B.,
Kramer P.L.,
Shalish C.,
de Leon D.,
Brin M.F.,
Raymond D.,
Corey D.P.,
Fahn S.,
Risch N.J.,
Buckler A.J.,
Gusella J.F.,
Breakefield X.O.;
"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.";
Nat. Genet. 17:40-48(1997).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
Humphray S.J.,
Oliver K.,
Hunt A.R.,
Plumb R.W.,
Loveland J.E.,
Howe K.L.,
Andrews T.D.,
Searle S.,
Hunt S.E.,
Scott C.E.,
Jones M.C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Ashwell R.I.S.,
Babbage A.K.,
Babbage S.,
Bagguley C.L.,
Bailey J., ![]()
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beasley H.,
Beasley O.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burford D.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Chen Y.,
Clarke G.,
Clark S.Y.,
Clee C.M.,
Clegg S.,
Collier R.E.,
Corby N.,
Crosier M.,
Cummings A.T.,
Davies J.,
Dhami P.,
Dunn M.,
Dutta I.,
Dyer L.W.,
Earthrowl M.E.,
Faulkner L.,
Fleming C.J.,
Frankish A.,
Frankland J.A.,
French L.,
Fricker D.G.,
Garner P.,
Garnett J.,
Ghori J.,
Gilbert J.G.R.,
Glison C.,
Grafham D.V.,
Gribble S.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Guy J.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Harrison E.S.I.,
Hart E.A.,
Heath P.D.,
Henderson C.D.,
Hopkins B.L.,
Howard P.J.,
Howden P.J.,
Huckle E.,
Johnson C.,
Johnson D.,
Joy A.A.,
Kay M.,
Keenan S.,
Kershaw J.K.,
Kimberley A.M.,
King A.,
Knights A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.,
Lloyd D.M.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
McLaren S.,
McLay K.E.,
McMurray A.,
Milne S.,
Nickerson T.,
Nisbett J.,
Nordsiek G.,
Pearce A.V.,
Peck A.I.,
Porter K.M.,
Pandian R.,
Pelan S.,
Phillimore B.,
Povey S.,
Ramsey Y.,
Rand V.,
Scharfe M.,
Sehra H.K.,
Shownkeen R.,
Sims S.K.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Swarbreck D.,
Sycamore N.,
Tester J.,
Thorpe A.,
Tracey A.,
Tromans A.,
Thomas D.W.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Williams S.A.,
Wilming L.,
Wray P.W.,
Young L.,
Ashurst J.L.,
Coulson A.,
Blocker H.,
Durbin R.M.,
Sulston J.E.,
Hubbard T.,
Jackson M.J.,
Bentley D.R.,
Beck S.,
Rogers J.,
Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Kidney, and Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[6]
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SUBCELLULAR LOCATION.
DOI=10.1074/jbc.M910025199; PubMed=10871631 [NCBI, ExPASy, EBI, Israel, Japan]
Kustedjo K.,
Bracey M.H.,
Cravatt B.F.;
"Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.";
J. Biol. Chem. 275:27933-27939(2000).
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[7]
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TISSUE SPECIFICITY.
DOI=10.1016/S0006-8993(99)02232-5; PubMed=10640617 [NCBI, ExPASy, EBI, Israel, Japan]
Shashidharan P.,
Kramer B.C.,
Walker R.H.,
Olanow C.W.,
Brin M.F.;
"Immunohistochemical localization and distribution of torsinA in normal human and rat brain.";
Brain Res. 853:197-206(2000).
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[8]
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INTERACTION WITH TOR1AIP1 AND TOR1AIP2.
DOI=10.1083/jcb.200411026; PubMed=15767459 [NCBI, ExPASy, EBI, Israel, Japan]
Goodchild R.E.,
Dauer W.T.;
"The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.";
J. Cell Biol. 168:855-862(2005).
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[9]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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