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
//