LOCUS AF007871 2072 bp mRNA linear HUM 06-SEP-1997 DEFINITION Homo sapiens torsinA (DYT1) mRNA, complete cds. ACCESSION AF007871 VERSION AF007871.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2072) AUTHORS Ozelius,L.J., Hewett,J.W., Page,C.E., Bressman,S.B., Kramer,P.L., Shalish,C., deLeon,D., Brin,M.F., Raymond,D., Corey,D.P., Fahn,S., Risch,N.J., Buckler,A.J., Gusella,J.F. and Breakefield,X.O. TITLE The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein JOURNAL Nat. Genet. 17 (1), 40-48 (1997) PUBMED 9288096 REFERENCE 2 (bases 1 to 2072) AUTHORS Ozelius,L.J., Hewett,J.W., Page,C.E., Bressman,S.B., Kramer,P.L., Shalish,C., deLeon,D., Brin,M.F., Raymond,D., Corey,D.P., Fahn,S., Risch,N.J., Buckler,A.J., Gusella,J.F. and Breakefield,X.O. TITLE Direct Submission JOURNAL Submitted (11-JUN-1997) Molecular Neurogenetics, Massachusetts General Hosp., 13th St. Bldg. 149, Charlestown, MA 02129, USA FEATURES Location/Qualifiers source 1..2072 /db_xref="H-InvDB:HIT000061919" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q34" gene 1..2072 /gene="DYT1" /note="early onset torsion dystonia gene; DQ2" CDS 43..1041 /gene="DYT1" /note="has ATP-binding site similar to heat shock proteins/Clp proteases" /codon_start=1 /product="torsinA" /protein_id="AAC51732.1" /translation="MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYC LFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHG WTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVS ACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVA LDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKH LKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD" polyA_site 1390 /gene="DYT1" polyA_site 2054 /gene="DYT1" BASE COUNT 530 a 489 c 510 g 543 t ORIGIN 1 cgcggtcggc gcgagaacaa gcagggtggc gcgggtccgg gcatgaagct gggccgggcc 61 gtgctgggcc tgctgctgct ggcgccgtcc gtggtgcagg cggtggagcc catcagcctg 121 ggactggccc tggccggcgt cctcaccggc tacatctacc cgcgtctcta ctgcctcttc 181 gccgagtgct gcgggcagaa gcggagcctt agccgggagg cactgcagaa ggatctggac 241 gacaacctct ttggacagca tcttgcaaag aaaatcatct taaatgccgt gtttggtttc 301 ataaacaacc caaagcccaa gaaacctctc acgctctccc tgcacgggtg gacaggcacc 361 ggcaaaaatt tcgtcagcaa gatcatcgca gagaatattt acgagggtgg tctgaacagt 421 gactatgtcc acctgtttgt ggccacattg cactttccac atgcttcaaa catcaccttg 481 tacaaggatc agttacagtt gtggattcga ggcaacgtga gtgcctgtgc gaggtccatc 541 ttcatatttg atgaaatgga taagatgcat gcaggcctca tagatgccat caagcctttc 601 ctcgactatt atgacctggt ggatggggtc tcctaccaga aagccatgtt catatttctc 661 agcaatgctg gagcagaaag gatcacagat gtggctttgg atttctggag gagtggaaag 721 cagagggaag acatcaagct caaagacatt gaacacgcgt tgtctgtgtc ggttttcaat 781 aacaagaaca gtggcttctg gcacagcagc ttaattgacc ggaacctcat tgattatttt 841 gttcccttcc tccccctgga atacaaacac ctaaaaatgt gtatccgagt ggaaatgcag 901 tcccgaggct atgaaattga tgaagacatt gtaagcagag tggctgagga gatgacattt 961 ttccccaaag aggagagagt tttctcagat aaaggctgca aaacggtgtt caccaagtta 1021 gattattact acgatgattg acagtcatga ttggcagccg gagtcactgc ctggagttgg 1081 aaaagaaaca acactcagtc cttccacact tccaccccca gctcctttcc ctggaagagg 1141 aatccagtga atgttcctgt ttgatgtgac aggaattctc cctggcattg tttccacccc 1201 ctggtgcctg caggccaccc agggaccacg ggcgaggacg tgaagcctcc cgaacacgca 1261 cagaaggaag gagccagctc ccagcccact catcgcaggg ctcatgattt tttacaaatt 1321 atgttttaat tccaagtgtt tctgtttcaa ggaaggatga ataagtttta ttgaaaatgt 1381 ggtaacttta tttaaaatga tttttaacat tatgagagac tgctcagatt ctaagttgtt 1441 ggccttgtgt gtgtgttttt ttttaagttc tcatcattat tacatagact gtgaagtatc 1501 tttactggaa atgagcccaa gcacacatgc atggcatttg ttcctgaaca ggagggcatc 1561 cctggggatg tggctggagc atgagccagc tctgtcccag gatggtccca gcggatgctg 1621 ccaggggcag tgaagtgttt aggtgaagga caagtaggta agaggacgcc ttcaggcacc 1681 acagataagc ctgaaacagc ctctccaagg gttttcacct tagcaacaat gggagctgtg 1741 ggagtgattt tggccacact gtcaacattt gttagaacca gtcttttgaa agaaaagtat 1801 ttccaacttg tcacttgcca gtcactccgt tttgcaaaag gtggcccttc actgtccatt 1861 ccaaatagcc cacacgtgct ctctgctgga ttctaaatta tgtgaatttt gccatattaa 1921 atcttcctca tttatactat tatttgttac gttcaatcag aatccccgaa acctcctata 1981 aagcttagct gccccttctg aggatgctga gaacggtgtc tttctttata aatgcaaatg 2041 gctaccgttt tacaataaaa ttttgcatgt gc //