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="InterPro:IPR036096" /db_xref="InterPro:IPR040172" /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 //