LOCUS       X79204                 10660 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  H.sapiens SCA1 mRNA for ataxin.
ACCESSION   X79204
VERSION     X79204.1
KEYWORDS    ataxin; SCA1 gene.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Banfi S., Servadio A., Chung M.Y., Kwiatkowski T.J., McCall A.E.,
            Duvick L.A., Shen Y., Roth E.J., Orr H.T., Zoghbi H.Y.
  TITLE     Identification and characterization of the gene causing type 1
            spinocerebellar ataxia
  JOURNAL   Nat Genet 7(4), 513-520(1994).
   PUBMED   7951322
REFERENCE   2  (bases 1 to 10660)
  AUTHORS   Banfi S.
  JOURNAL   Submitted (11-MAY-1994) to the INSDC. S. Banfi, Baylor College of
            Medicine, Dept of Pediatrics, One Baylor Plaza, Houston TX 77030,
            USA
FEATURES             Location/Qualifiers
     source          1..10660
                     /db_xref="H-InvDB:HIT000323731"
                     /organism="Homo sapiens"
                     /chromosome="6"
                     /map="6p22"
                     /mol_type="mRNA"
                     /dev_stage="adult, fetal"
                     /tissue_type="cerebellum, brain"
                     /db_xref="taxon:9606"
     CDS             936..3386
                     /gene="SCA1"
                     /product="ataxin-1"
                     /db_xref="GOA:P54253"
                     /db_xref="H-InvDB:HIT000323731.15"
                     /db_xref="HGNC:HGNC:10548"
                     /db_xref="InterPro:IPR003652"
                     /db_xref="InterPro:IPR020997"
                     /db_xref="PDB:1OA8"
                     /db_xref="PDB:2M41"
                     /db_xref="PDB:4APT"
                     /db_xref="PDB:4AQP"
                     /db_xref="PDB:4J2J"
                     /db_xref="PDB:4J2L"
                     /db_xref="UniProtKB/Swiss-Prot:P54253"
                     /protein_id="CAA55793.1"
                     /translation="MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTA
                     WLPGNPGGRGHGGGRHGPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTL
                     PAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVA
                     SAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQ
                     QQQQQQQQHLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQT
                     MIPHTLTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRR
                     YGAPSSADLGLGKAGGKSVPHPYESRHVVVHPSPSDYSSRDPSGVRASVMVLPNSNTP
                     AADLEVQQATHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLP
                     ATAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPLLIPVGSTDMEASGAAPA
                     IVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPAA
                     APPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHS
                     PGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDV
                     CISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLS
                     ENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPS
                     LIPQEVKICIEGRSNVGK"
BASE COUNT         2807 a         2515 c         2424 g         2914 t
ORIGIN      
        1 ctactacagt ggcggacgta caggacctgt ttcactgcag ggggatccaa aacaagcccc
       61 gtggagcaac agccagagca acagcagctg caagacattg tttctctccc tctgcccccc
      121 cttccccacg caaccccaga tccatttaca ctttacagtt ttacctcaca aaaactacta
      181 caagcaccaa gctccctgat ggaaaggagc atcgtgcatc aagtcaccag ggtggtccat
      241 tcaagctgca gatttgtttg tcatccttgt acagcaatct cctcctccac tgccactaca
      301 gggaagtgca tcacatgtca gcatactgga gcatagtgaa agagtctatt ttgaagcttc
      361 aaacttagtg ctgctgcaga ccaggaacaa gagagaaaga gtggatttca gcctgcacgg
      421 atggtcttga aacacaaatg gtttttggtc taggcgtttt acactgagat tctccactgc
      481 caccctttct actcaagcaa aatcttcgtg aaaagatctg ctgcaaggaa ctgatagctt
      541 atggttctcc attgtgatga aagcacatgg tacagttttc caaagaaatt agaccatttt
      601 cttcgtgaga aagaaatcga cgtgctgttt tcatagggta tttctcactt ctctgtgaaa
      661 ggaagaaaga acacgcctga gcccaagagc cctcaggagc cctccagagc ctgtgggaag
      721 tctccatggt gaagtatagg ctgaggctac ctgtgaacag tacgcagtga atgttcatcc
      781 agagctgctg ttggcggatt gtacccacgg ggagatgatt cctcatgaag agcctggatc
      841 ccctacagaa atcaaatgtg actttccgtt tatcagacta aaatcagagc catccagaca
      901 gtgaaacagt caccgtggag gggggacggc gaaaaatgaa atccaaccaa gagcggagca
      961 acgaatgcct gcctcccaag aagcgcgaga tccccgccac cagccggtcc tccgaggaga
     1021 aggcccctac cctgcccagc gacaaccacc gggtggaggg cacagcatgg ctcccgggca
     1081 accctggtgg ccggggccac gggggcggga ggcatgggcc ggcagggacc tcggtggagc
     1141 ttggtttaca acagggaata ggtttacaca aagcattgtc cacagggctg gactactccc
     1201 cgcccagcgc tcccaggtct gtccccgtgg ccaccacgct gcctgccgcg tacgccaccc
     1261 cgcagccagg gaccccggtg tcccccgtgc agtacgctca cctgccgcac accttccagt
     1321 tcattgggtc ctcccaatac agtggaacct atgccagctt catcccatca cagctgatcc
     1381 ccccaaccgc caaccccgtc accagtgcag tggcctcggc cgcaggggcc accactccat
     1441 cccagcgctc ccagctggag gcctattcca ctctgctggc caacatgggc agtctgagcc
     1501 agacgccggg acacaaggct gagcagcagc agcagcagca gcagcagcag cagcagcagc
     1561 atcagcatca gcagcagcag cagcagcagc agcagcagca gcagcagcag cagcacctca
     1621 gcagggctcc ggggctcatc accccggggt cccccccacc agcccagcag aaccagtacg
     1681 tccacatttc cagttctccg cagaacaccg gccgcaccgc ctctcctccg gccatccccg
     1741 tccacctcca cccccaccag acgatgatcc cacacacgct caccctgggg cccccctccc
     1801 aggtcgtcat gcaatacgcc gactccggca gccactttgt ccctcgggag gccaccaaga
     1861 aagctgagag cagccggctg cagcaggcca tccaggccaa ggaggtcctg aacggtgaga
     1921 tggagaagag ccggcggtac ggggccccgt cctcagccga cctgggcctg ggcaaggcag
     1981 gcggcaagtc ggttcctcac ccgtacgagt ccaggcacgt ggtggtccac ccgagcccct
     2041 cagactacag cagtcgtgat ccttcggggg tccgggcctc tgtgatggtc ctgcccaaca
     2101 gcaacacgcc cgcagctgac ctggaggtgc aacaggccac tcatcgtgaa gcctcccctt
     2161 ctaccctcaa cgacaaaagt ggcctgcatt tagggaagcc tggccaccgg tcctacgcgc
     2221 tctcacccca cacggtcatt cagaccacac acagtgcttc agagccactc ccggtgggac
     2281 tgccagccac ggccttctac gcagggactc aaccccctgt catcggctac ctgagcggcc
     2341 agcagcaagc aatcacctac gccggcagcc tgccccagca cctggtgatc cccggcacac
     2401 agcccctgct catcccggtc ggcagcactg acatggaagc gtcgggggca gccccggcca
     2461 tagtcacgtc atccccccag tttgctgcag tgcctcacac gttcgtcacc accgcccttc
     2521 ccaagagcga gaacttcaac cctgaggccc tggtcaccca ggccgcctac ccagccatgg
     2581 tgcaggccca gatccacctg cctgtggtgc agtccgtggc ctccccggcg gcggctcccc
     2641 ctacgctgcc tccctacttc atgaaaggct ccatcatcca gttggccaac ggggagctaa
     2701 agaaggtgga agacttaaaa acagaagatt tcatccagag tgcagagata agcaacgacc
     2761 tgaagatcga ctccagcacc gtagagagga ttgaagacag ccatagcccg ggcgtggccg
     2821 tgatacagtt cgccgtcggg gagcaccgag cccaggtcag cgttgaagtt ttggtagagt
     2881 atcctttttt tgtgtttgga cagggctggt catcctgctg tccggagaga accagccagc
     2941 tctttgattt gccgtgttcc aaactctcag ttggggatgt ctgcatctcg cttaccctca
     3001 agaacctgaa gaacggctct gttaaaaagg gccagcccgt ggatcccgcc agcgtcctgc
     3061 tgaagcactc aaaggccgac ggcctggcgg gcagcagaca caggtatgcc gagcaggaaa
     3121 acggaatcaa ccaggggagt gcccagatgc tctctgagaa tggcgaactg aagtttccag
     3181 agaaaatggg attgcctgca gcgcccttcc tcaccaaaat agaacccagc aagcccgcgg
     3241 caacgaggaa gaggaggtgg tcggcgccag agagccgcaa actggagaag tcagaagacg
     3301 aaccaccttt gactcttcct aagccttctc taattcctca ggaggttaag atttgcattg
     3361 aaggccggtc taatgtaggc aagtagaggc agcgtggggg aaaggaaacg tggctctccc
     3421 ttatcatttg tatccagatt actgtactgt aggctaaaat aacacagtat ttacatgtta
     3481 tcttcttaat tttaggtttc tgttctaacc ttgtcattag agttacagca ggtgtgtcgc
     3541 aggagactgg tgcatatgct ttttccacga gtgtctgtca gtgagcgggc gggaggaagg
     3601 gcacagcagg agcggtcagg gctccaggca tccccgggga agaaaggaac ggggcttcac
     3661 agtgcctgcc ttctctagcg gcacagaagc agccgggggc gctgactccc gctagtgtca
     3721 ggagaaaagt cccgtgggaa gagtcctgca ggggtgcagg gttgcacgca tgtgggggtg
     3781 cacaggcgct gtggcggcga gtgagggtct ctttttctct gcctccctct gcctcactct
     3841 cttgctatcg gcatgggccg ggggggttca gagcagtgtc ctcctggggt tcccacgtgc
     3901 aaaatcaaca tcaggaaccc agcttcaggg catcgcggag acgcgtcaga tggcagattt
     3961 ggaaagttaa ccatttaaaa gaacattttt ctctccaaca tattttacaa taaaagcaac
     4021 ttttaattgt atagatatat atttccccct atggggcctg actgcactga tatatatttt
     4081 ttttaaagag caactgccac atgcgggatt tcatttctgc tttttactag tgcagcgatg
     4141 tcaccagggt gttgtggtgg acagggaagc ccctgctgtc atggccccac atggggtaag
     4201 gggggttggg ggtgggggag agggagagag cgaacaccca cgctggtttc tgtgcagtgt
     4261 taggaaaacc aatcaggtta ttgcattgac ttcactccca agaggtagat gcaaactgcc
     4321 cttcagtgag agcaacagaa gctcttcacg ttgagtttgc gaaatctttt tgtctttgaa
     4381 ctctagtact gtttatagtt catgactatg gacaactcgg gtgccacttt tttttttttc
     4441 agattccagt gtgacatgag gaattagatt ttgaagatga gcatatatta ctatctttaa
     4501 gcatttaaaa atactgttca cactttatta ccaagcatct tggtctctca ttcaacaagt
     4561 actgtatctc actttaaact ctttggggaa aaaacaaaaa caaaaaaaac taagttgctt
     4621 tctttttttc aacactgtaa ctacatttca gctctgcaga attgctgaag agcaagatat
     4681 tgaaagtttc aatgtggttt aaagggatga atgtgaatta tgaactagta tgtgacaata
     4741 aatgaccacc aagtactacc tgacgggagg cacttttcac tttgatgtct gagaatcagt
     4801 tcaaggcata tgcagagttg gcagagaaac tgagagaaaa gggatggaga agagaatact
     4861 catttttgtc cagtgttttt ctttttaaga tgaactttta aagaaccttg cgatttgcac
     4921 atattgagtt tataacttgt gtgatattcc tgcagttttt atccaataac attgtgggaa
     4981 aggtttgggg gactgaacga gcataaataa atgtagcaaa atttctttct aacctgccta
     5041 aactctaggc cattttataa ggttatgttc ctttgaaaat tcattttggt ctttttacca
     5101 catctgtcac aaaaagccag gtcttagcgg gctcttagaa actctgagaa ttttcttcag
     5161 attcattgag agagttttcc ataaagacat ttatatatgt gagcaagatt ttttttaaac
     5221 aattacttta ttattgttgt tattaatgtt attttcagaa tggctttttt tttctattca
     5281 aaatcaaatc gagatttaat gtttggtaca aacccagaaa gggtatttca tagtttttaa
     5341 acctttcatt cccagagatc cgaaatatca tttgtgggtt ttgaatgcat ctttaaagtg
     5401 ctttaaaaaa aagttttata agtagggaga aatttttaaa tattcttact tggatggctg
     5461 caactaaact gaacaaatac ctgacttttc ttttacccca ttgaaaatag tactttcttc
     5521 gtttcacaaa ttaaaaaaaa aatctggtat caacccacat tttggctgtc tagtattcat
     5581 ttacatttag ggttcaccag gactaatgat ttttataaac cgttttctgg ggtgtaccaa
     5641 aaacatttga ataggtttag aatagctaga atagttcctt gactttcctc gaatttcatt
     5701 accctctcag catgcttgca gagagctggg tgggctcatt cttgcagtca tactgcttat
     5761 ttagtgctgt attttttaaa cgtttctgtt cagagaactt gcttaatctt ccatatattc
     5821 tgctcagggc acttgcaatt attaggtttt gtttttcttt ttgtttttta gcctttgatg
     5881 gtaagaggaa tacgggctgc cacatagact ttgttctcat taatatcact atttacaact
     5941 catgtggact cagaaaaaca cacaccacct tttggcttac ttcgagtatt gaattgactg
     6001 gatccactaa accaacacta agatgggaaa acacacatgg tttggagcaa taggaacatc
     6061 atcataattt ttgtggttct atttcaggta taggaattat aaaataattg gttctttcta
     6121 aacacttgtc ccatttcatt ctcttgcttt tttagcatgt gcaatacttt ctgtgccaat
     6181 agagtctgac cagtgtgcta tatagttaaa gctcattccc ttttggcttt ttccttgttt
     6241 ggttgatctt ccccattctg gccagagcag ggctggaggg aaggagccag gagggagaga
     6301 gcctcccacc tttcccctgc tgcggatgct gagtgctggg gcggggagcc ttcaggagcc
     6361 ccgtgcgtct gccgccacgt tgcagaaaga gccagccaag gagacccggg ggaggaaccg
     6421 cagtgtcccc tgtcaccaca cggaatagtg aatgtggagt gtggagagga aggaggcaga
     6481 ttcatttcta agacgcactc tggagccatg tagcctggag tcaacccatt ttccacggtc
     6541 ttttctgcaa gtgggcaggc ccctcctcgg ggtctgtgtc cttgagactt ggagccctgc
     6601 ctctgagcct ggacgggaag tgtggcctgt tgtgtgtgtg cgttctgagc gtgttggcca
     6661 gtggctgtgg aggggaccac ctgccaccca cggtcaccac tcccttgtgg cagctttctc
     6721 ttcaaatagg aagaacgcac agagggcagg agcctcctgt ttgcagacgt tggcgggccc
     6781 cgaggctccc agagcagcct ctgtcaccgc ttctgtgtag caaacattaa cgatgacagg
     6841 ggtagaaatt cttcggtgcc gttcagctta caaggatcag ccatgtgcct ctgtactatg
     6901 tccactttgc aatatttacc gacagccgtc ttttgttctt tctttcctgt tttccatttt
     6961 taaactagta acagcaggcc ttttgcgttt acaatggaac acaatcacca agaaattagt
     7021 cagggcgaaa agaaaaaaat aatactatta ataagaaacc aacaaacaag aacctctctt
     7081 tctagggatt tctaaatata taaaatgact gttccttaga atgtttaact taagaattat
     7141 ttcagtttgt ctgggccaca ctggggcaga ggggggaggg agggatacag agatggatgc
     7201 cacttacctc agatctttta aagtggaaat ccaaattgaa ttttcatttg gactttcagg
     7261 ataattttct atgttggtca acttttcgtt ttccctaact cacccagttt agtttgggat
     7321 gatttgattt ctgttgttgt tgatcccatt tctaacttgg aattgtgagc ctctatgttt
     7381 tctgttaggt gagtgtgttg ggttttttcc ccccaccagg aagtggcagc atccctcctt
     7441 ctcccctaaa gggactctgc ggaacctttc acacctcttt ctcagggacg gggcaggtgt
     7501 gtgtgtggta cactgacgtg tccagaagca gcactttgac tgctctggag tagggttgta
     7561 caatttcaag gaatgtttgg atttcctgca tcttgtggat tactccttag ataccgcata
     7621 gattgcaata taatgctgca tgttcaagat gaacagtagc tcctagtaat cataaaatcc
     7681 actctttgca cagtttgatc tttactgaaa tatgttgcca aaatttattt ttgttgttgt
     7741 agctctggat tttgttttgt tttgtttttt aaggaaacga ttgacaatac cctttaacat
     7801 ctgtgactac taaggaaacc tatttctttc atagagagaa aaatctccaa tgcttttgaa
     7861 gacactaata ccgtgctatt tcagatatgg gtgaggaagc agagctctcg gtaccgaagg
     7921 ccgggcttct tgagctgtgt tggttgtcat ggctactgtt tcatgaacca caagcagctc
     7981 aacagactgg tctgttgcct tctgaaaccc tttgcacttc aatttgcacc aggtgaaaac
     8041 agggccagca gactccatgg cccaattcgg tttcttcggt ggtgatgtga aaggagagaa
     8101 ttacactttt ttttttttta agtggcgtgg aggcctttgc ttccacattt gtttttaacc
     8161 cagaatttct gaaatagaga atttaagaac acatcaagta ataaatatac agagaatata
     8221 cttttttata aagcacatgc atctgctatt gtgttgggtt ggtttcctct cttttccacg
     8281 gacagtgttg tgtttctggc atagggaaac tccaaacaac ttgcacacct ctactccgga
     8341 gctgagattt cttttacata gatgacctcg cttcaaatac gttaccttac tgatgatagg
     8401 atcttttctt gtagcactat accttgtggg aatttttttt taaatgtaca cctgatttga
     8461 gaagctgaag aaaacaaaat tttgaagcac tcactttgag gagtacaggt aatgttttaa
     8521 aaaattgcac aaaagaaaaa tgaatgtcga aatgattcat tcagtgtttg aaagatatgg
     8581 ctctgttgaa acaatgagtt tcatactttg tttgtaaaaa aaaaaagcag agaagggttg
     8641 aaagttacat gtttttttgt atatagaaat ttgtcatgtc taaatgatca gatttgtatg
     8701 gttatggcct ggaagaatta ctacgtaaaa ggctcttaaa ctatacctat gcttattgtt
     8761 atttttgtta catatagccc tcgtctgagg gaggggaact cggtattctg cgatttgaga
     8821 atactgttca ttcctatgct gaaagtactt ctctgagctc ccttcttagt ctaaactctt
     8881 aagccattgc aacttctttt tcttcagaga tgatgtttga cattttcagc acttcctgtt
     8941 cctataaacc caaagaatat aatcttgaac acgaagtgtt tgtaacaagg gatccaggct
     9001 accaatcaaa caggactcat tatggggaca aaaaaaaaaa aaattatttc accttctttc
     9061 cccccacacc tcatttaaat ggggggagta aaaacatgat ttcaatgtaa atgcctcatt
     9121 ttattttagt tttattttga tttttattta atataaagag gccagaataa atacggagca
     9181 tcttctcaga atagtattcc tgtccaaaaa tcaagccgga cagtggaaac tggacagctg
     9241 tggggatatt aagcaccccc acttacaatt cttaaattca gaatctcgtc ccctcccttc
     9301 tcgttgaagg caactgttct ggtagctaac tttctcctgt gtaatggcgg gagggaacac
     9361 cggcttcagt ttttcatgtc cccatgactt gcatacaaat ggttcaactg tattaaaatt
     9421 aagtgcattt ggccaatagg tagtatctat acaataacaa caatctctaa gaatttccat
     9481 aacttttctt atctgaaagg actcaagtct tccactgcag atacattgga ggcttcaccc
     9541 acgttttctt tccctttagt ttgtttgctg tctggatggc caatgagcct gtctcctttt
     9601 ctgtggccaa tctgaaggcc ttcgttggaa gtgttgttca cagtaatcct taccaagata
     9661 acatactgtc ctccagaata ccaagtatta ggtgacacta gctcaagctg ttgtcttcag
     9721 agcagttacc aagaagctcg gtgcacaggt tttctctggt tcttacagga accacctact
     9781 ctttcagttt tctggcccag gagtggggta aatcctttag ttagtgcatt tgaacttggt
     9841 acctgtgcat tcagttctgt gaatactgcc ctttttggcg gggtttcctc atctccccag
     9901 cctgaactgc tcaactctaa acccaaatta gtgtcagccg aaaggaggtt tcaagatagt
     9961 cctgtcagta tttgtggtga ccttcagatt agacagtctt catttccagc cagtggagtc
    10021 ctggctccag agccatctct gagactccgt actactggat gttttaatat cagatcatta
    10081 cccaccatat gcctcccaca ggccaaggga aaacagacac cagaacttgg gttgagggca
    10141 ctaccagact gacatggcca gtacagagga gaactaggga aggaatgatg ttttgcacct
    10201 tattgaaaag aaaattttaa gtgcatacat aatagttaag agcttttatt gtgacaggag
    10261 aacttttttc catatgcgtg catactctct gtaattccag tgtaaaatat tgtacttgca
    10321 ctagcttttt taaacaaata ttaaaaaatg gaagaattca tattctattt tctaatcgtg
    10381 gtgtgtctat ttgtaggata cactcgagtc tgtttattga attttatggt ccctttcttt
    10441 gatggtgctt gcaggttttc taggtagaaa ttatttcatt attataataa aacaatgttt
    10501 gattcaaaat ttgaacaaaa ttgttttaaa taaattgtct gtataccagt acaagtttat
    10561 tgtttcagta tactcgtact aataaaataa cagtgccaat tgcaaaaaaa aaaaaaaaaa
    10621 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
//