LOCUS AJ000517 3969 bp mRNA linear HUM 13-MAR-1998
DEFINITION Homo Sapiens mRNA for spinocerebellar ataxia 7.
ACCESSION AJ000517
VERSION AJ000517.1
KEYWORDS SCA7 gene; spinocerebellar ataxia 7.
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 3969)
AUTHORS Brice A.
JOURNAL Submitted (22-JUL-1997) to the INSDC. Brice A., Hopital de la
Salpetriere, INSERM U289, 47 bd. de l Hopital, 75651 Paris Cedex
13, FRANCE.
REFERENCE 2
AUTHORS David G., Abbas N., Stevanin G., Durr A., Yvert G., Cancel G.,
Weber C., Imbert G., Saudou F., Antoniou E., Drabkin H.,
Gemmill R., Giunti P., Benomar A., Wood N., Ruberg M., Agid Y.,
Mandel J.L., Brice A.
TITLE Cloning of the SCA7 gene reveals a highly unstable CAG repeat
expansion
JOURNAL Nat Genet 17(1), 65-70(1997).
PUBMED 9288099
REFERENCE 3
AUTHORS Del-Favero J., Krols L., Michalik A., Theuns J., Loefgren A.,
Goossens D., Wehnert A., Van den Bossche D., Zand K.V.,
Backhovens H., van Regenmorter N., MARTIN J.J., Van Broeckhoven C.
TITLE Molecular genetic analysis of autosomal dominant cerebellar ataxia
with retinal degeneration (ADCA type II) caused by CAG triplet
repeat expansion
JOURNAL Hum. Mol. Genet. 7(2), 177-186(1998).
PUBMED 9425224
FEATURES Location/Qualifiers
source 1..3969
/db_xref="H-InvDB:HIT000243812"
/organism="Homo sapiens"
/chromosome="3"
/map="p12-p13"
/lab_host="E.coli"
/mol_type="mRNA"
/sex="male"
/clone_lib="lambda SCREEN-1"
/tissue_lib="lymphoblastoid cell line"
/db_xref="taxon:9606"
CDS 562..3240
/codon_start=1
/gene="SCA7"
/product="spinocerebellar ataxia 7"
/db_xref="GOA:O15265"
/db_xref="H-InvDB:HIT000243812.15"
/db_xref="HGNC:HGNC:10560"
/db_xref="InterPro:IPR013243"
/db_xref="InterPro:IPR030706"
/db_xref="PDB:2KKR"
/db_xref="UniProtKB/Swiss-Prot:O15265"
/protein_id="CAA04154.1"
/translation="MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQ
PQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEAS
KLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQ
AFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSS
SKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGP
TCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNK
RLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNK
TREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTP
SLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLD
CHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPV
PSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTT
LNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRP
KESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVA
HSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSS
DSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKV
AKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP"
BASE COUNT 1028 a 1090 c 939 g 912 t
ORIGIN
1 cgttgctgtc gaaagggtga aagagaaact tggcgacctc ccggaggagt tcgcgaagcg
61 accaggagcg tgttgccatc gtcctcaccc ggcacccaat tccaccacag agtcgggatt
121 tcgtcggtga tcgtgatggg gtgcttttat ttttctcttt gattttcaaa aaatgtctat
181 gtgactgtcc ctatcttaag gggaagttga aagtgggggc gggggtgctc aatgagaaac
241 gttgccttgt gtgtagttgt ttggagcaca ctgcaaatta tattggcatc tctttccaaa
301 agtcactttg attcaacttc gatagctttc tcgtaaatgg cacgtttagg tggtgagagg
361 tggatgagga aacaggcacc agtgcagctg atttgacctc cagtgggata gatacgatta
421 gcaccaggat cgtgtctcat tttgaaccca gatctgaaca gaattaagac gaacgagctt
481 tcacaattgc agcagatgaa gatccattgg taaattgatc aggatttttg gcctaccctc
541 caaagaaaag gagcggaaag aatgtcggag cgggccgcgg atgacgtcag gggggagccg
601 cgccgcgcgg cggcggcggc gggcggagca gcggccgcgg ccgcccggca gcagcagcag
661 cagcagcagc agcagcagcc gccgcctccg cagccccagc ggcagcagca cccgccaccg
721 ccgccacggc gcacacggcc ggaggacggc gggcccggcg ccgcctccac ctcggccgcc
781 gcaatggcga cggtcgggga gcgcaggcct ctgcccagtc ctgaagtgat gctgggacag
841 tcgtggaatc tgtgggttga ggcttccaaa cttcctggga aggacgggac agaattggac
901 gaaagtttca aggagtttgg gaaaaaccgc gaagtcatgg ggctctgtcg ggaagacatg
961 ccaatatttg gtttctgtcc agcccatgat gatttctact tggtggtgtg taacgactgt
1021 aatcaggttg tcaaaccgca ggcatttcaa tcacattatg aaagaagaca tagctcatcc
1081 agcaagccgc ctttggccgt tcctcccact tcagtatttt ccttcttccc ttctctgtcc
1141 aaaagcaaag gaggcagtgc aagtggaagc aaccgttctt ccagtggagg tgttcttagc
1201 gcatcctcat caagttccaa gttgttgaaa tcacccaaag agaaactgca gctcaggggg
1261 aacaccaggc caatgcatcc cattcagcaa agtagagttc cccatggtag aatcatgaca
1321 ccctctgtga aagtggaaaa gattcatccg aaaatggatg gcacactact gaaatctgcg
1381 gtggggccaa cctgtcctgc tactgtgagt tccttagtca agcctggcct taactgcccc
1441 tcaataccaa agccaacctt gccttcacct ggacagattc tgaatggcaa agggcttcct
1501 gcaccgccca ctctggaaaa gaaacctgaa gacaattcca ataataggaa atttttaaat
1561 aagagattat cagaaagaga gtttgatcct gacatccact gtggggttat tgatctcgac
1621 accaagaagc cctgcacccg gtctttgaca tgcaagacac attccttaac ccagcgcagg
1681 gctgtccagg gtagaagaaa acgatttgat gtgttattag ccgagcacaa aaacaaaacc
1741 agggaaaagg aattgattcg ccatccggac tctcagcaac caccgcagcc tctcagggac
1801 ccgcatcccg cccctcctag aacgtcacag gagccgcacc aaaaccctca cggagtgatt
1861 ccttccgaat caaagccttt tgtagctagt aaacctaaac ctcacacccc cagtcttcca
1921 aggcctccag gctgccctgc tcagcaaggt gggagtgccc ccattgaccc tcctccagtc
1981 catgaatctc cacaccctcc cctgcctgcc actgagccag cttctcggtt atccagtgag
2041 gagggcgaag gcgatgacaa agaagagtct gttgaaaaac tggactgtca ttattcaggt
2101 catcatcctc agccagcatc tttttgcaca tttgggagcc ggcagatagg aagaggctat
2161 tacgtgtttg actccaggtg gaatcgactt cgctgcgccc tcaacctcat ggtggagaag
2221 catctgaatg cacagctatg gaagaaaatc ccaccagtgc ccagtaccac ctcacccatc
2281 tccacacgta ttcctcaccg gacaaactct gtgccgacat cacaatgtgg agtcagctat
2341 ctggcagcag ccaccgtctc tacatcccca gtcctgctct catctacctg catctcccca
2401 aatagcaaat cggtaccagc tcatggaacc acactaaatg cacagcctgc tgcttcaggg
2461 gcgatggatc ctgtgtgcag tatgcaatcc agacaagtgt cctcttcatc ctcatcccct
2521 tccacgccct ctggcctttc ctcggttcct tcctccccca tgtccaggaa acctcagaaa
2581 ttgaaatcca gcaaatcttt gaggcccaag gagtcttctg gtaacagcac taactgtcaa
2641 aatgccagta gcagtaccag tggcggctca ggaaagaaac gcaaaaacag ttccccactg
2701 ttggttcact cttcctcctc ctcttcctcc tcctcctctt cttctcattc catggagtct
2761 tttaggaaaa actgtgtggc tcactctggg cctccctacc cctcaacggt aacatcttcc
2821 catagcatcg gcctcaactg tgtgacgaat aaagcaaatg cggtgaacgt ccggcatgac
2881 cagtcaggga ggggcccccc caccgggagc cctgctgaat ccatcaagag gatgagtgtg
2941 atggtgaaca gcagtgattc tactctttct cttgggccat tcattcacca gtccaatgaa
3001 ctgcctgtca actcccacgg cagtttttcc cactcacaca ctcctctaga caaactcata
3061 ggaaagaaaa gaaagtgctc acccagctcg agcagcatca acaacagcag cagcaaaccc
3121 acaaaggttg ccaaagtgcc agccgtgaac aatgtccaca tgaaacacac aggcaccatc
3181 ccaggggcac aaggactgat gaacagttcc ctccttcatc agccaaaggc acgtccctga
3241 cagctgaaaa tagcacgggg aggaataatg cggacacttt tgaggacaag ttacacctcc
3301 actcagcact ctggactcca cgatgccttt gagtctgttt tcccaacctc ctgtgggcct
3361 caagggtaga aacctgccgg gctgttgttt taacgaggat ttccctgaag ctatgtctct
3421 agcagtgagt actcataaag gacactggat caagttcagc caccgaattg cttttatcag
3481 tgttaaagtg gtctgaactg cttgctacca atctgtgaga agtttttgtt tttgttttgt
3541 tttttaactt gcagtatatc acagagccac tcttcaagtt agattggctg ggcaaaagaa
3601 tgttttggca agagcgttac tgtagacctt tctccctcct tccttttact accatttttt
3661 tttaacactg tcatctgtag gtcactctcc agcagttagg caccttaact ggagaccaga
3721 aaccttccag agaacacagg gctgcatccc gagcaaccct ctgaagaagg gaattaggct
3781 ttagattttg atagcaatgt tccaggaatg aaatatagat gttagcccaa gacaccatga
3841 caaaatagcc cagccttttg agagtaattt gggaaaagaa gctgtcagaa gtttctaact
3901 tacaaactgg tttgaaattt ttgatgccca gacagcaagt atcgacagca acggaattcg
3961 agctccgtc
//