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
//