LOCUS AF284580 3487 bp mRNA linear HUM 03-OCT-2000
DEFINITION Homo sapiens progressive myoclonus epilepsy type 2 (EPM2A) mRNA,
complete cds.
ACCESSION AF284580
VERSION AF284580.1
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 3487)
AUTHORS Ganesh,S., Agarwala,K.L., Ueda,K., Akagi,T., Shoda,K., Usui,T.,
Hashikawa,T., Osada,H., Delgado-Escueta,A.V. and Yamakawa,K.
TITLE Laforin, defective in the progressive myoclonus epilepsy of Lafora
type, is a dual-specificity phosphatase associated with
polyribosomes
JOURNAL Hum. Mol. Genet. 9 (15), 2251-2261 (2000)
PUBMED 11001928
REFERENCE 2 (bases 1 to 3487)
AUTHORS Ganesh,S. and Yamakawa,K.
TITLE Direct Submission
JOURNAL Submitted (03-JUL-2000) Neurogenetics Laboratory, RIKEN Brain
Science Institute, 2-1, Hirosawa, Wako-shi, Saitama 351-0198, Japan
FEATURES Location/Qualifiers
source 1..3487
/db_xref="H-InvDB:HIT000076240"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q24"
/clone="LDH1"
gene 1..3487
/gene="EPM2A"
CDS 358..1353
/gene="EPM2A"
/note="laforin; dual-specificity phosphatase"
/codon_start=1
/product="progressive myoclonus epilepsy type 2"
/protein_id="AAG18377.1"
/translation="MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAG
TAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGN
GPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRI
LPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMI
KLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAA
VCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL"
BASE COUNT 933 a 782 c 869 g 903 t
ORIGIN
1 gagaactgga cgatcgcctg gcttagaagt tttcctccct ccccgaaccc cgttttctct
61 tccatttctt ccggtcgcgt gtccccagcg cccacaggtg gaaatcaacc gcccgcgggg
121 ttgcggggca caaagaggca gctggcggct ccgctgaccc cttcccgccg gcctggacga
181 agtctgggct tgggagccgc gtgatgcatc ccaaagaagg cgcagaacag cacgtgttct
241 ccccggtgcc cggggctccc acaccaccgc ccaatcgctg cggccgccta gtgctcgggc
301 cgcgcctgcc agccgcgggg actccgggcc cgggtattcg cgccgccgcc gcccgccatg
361 cgcttccgct ttggggtggt ggtgccaccc gccgtggccg gcgcccggcc ggagctgctg
421 gtggtggggt cgcggcccga gctggggcgt tgggagccgc gcggtgccgt ccgcctgagg
481 ccggccggca ccgcggcggg cgacggggcc ctggcgctgc aggagccggg cctgtggctc
541 ggggaggtgg agctggcggc cgaggaggcg gcgcaggacg gggcggagcc gggccgcgtg
601 gacacgttct ggtacaagtt cctgaagcgg gagccgggag gagagctctc ctgggaaggc
661 aatggacctc atcatgaccg ttgctgtact tacaatgaaa acaacttggt ggatggtgtg
721 tattgtctcc caataggaca ctggattgag gccactggac acaccaatga aatgaagcac
781 acaacagact tctattttaa tattgcaggc caccaagcca tgcattattc aagaattcta
841 ccaaatatct ggctgggtag ctgccctcgt caggtggaac atgtaaccat caaactgaag
901 catgaattgg ggattacagc tgtaatgaat ttccagactg aatgggatat tgtacagaat
961 tcctcaggct gtaaccgcta cccagagccc atgactccag acactatgat taaactatat
1021 agggaagaag gcttggccta catctggatg ccaacaccag atatgagcac cgaaggccga
1081 gtacagatgc tgccccaggc ggtgtgcctg ctgcatgcgc tgctggagaa gggacacatc
1141 gtgtacgtgc actgcaacgc tggggtgggc cgctccaccg cggctgtctg cggctggctc
1201 cagtatgtga tgggctggaa tctgaggaag gtgcagtatt tcctcatggc caagaggccg
1261 gctgtctaca ttgacgaaga ggccttggcc cgggcacaag aagatttttt ccagaaattt
1321 gggaaggttc gttcttctgt gtgtagcctg tagctggtca gcctgcttct gccccctcct
1381 gatttcccta aggagcctgg gatgatgttg gtcaaatgac ctagaaacaa ggattctacc
1441 tgaactgaaa ggactgtgtg acctccccca agccaaccac tttcacctgg gatgactttc
1501 gattatgctt tgttttgggg ctgtattttt gaaatactct acaagaaagc tgtggctcaa
1561 cacatgagaa gaagcacgaa gcagttaggc ttgtacatca gacagaaggg taatgcgtgc
1621 agttcctgct gcctgcaggc agacgaggcc tttgctttac agcactgtat gtgttgcacg
1681 atggatccgt gacagcactt tcctgttgca ctgaaactct tggccatgta gaggaaaaga
1741 tatggagtta tgtggatttc atcactagta tgtgtgccgt gagctggtca agttgccaaa
1801 ggaggaaata aggttagaag cctgaaccgt acaaaagaag agctcactat ggtcaaaaag
1861 tgatggcttt caggacttgt tttttatcct gcctcacagt tgttaaagtc tgttccaagg
1921 catcaccttc cttctctacc caacaaccct gtgtaacaac taaagtagaa ttatctctca
1981 tttgttgttg tttttcctca aaattaccaa acaaagcaaa aaataccctt gttttttata
2041 gttgagatgt caagaagtta aattgaggct taatgagcat aggtagcttg tccaaggtct
2101 catgaccagt caagggcaag ctggagttaa taatctatat ttatttgact cagcactgtt
2161 ttcatcacaa cttgttttcc cagcatcatg tagtgcattt agttttgtct ttctcagggt
2221 atagtcaata tgcctgcagg agtttctata gcgagacata gaatagtatt ctgatcagtt
2281 gccaaagaat ctaggaaatt agttgtattt tgtgcaagct aatttaaaaa catgatgggc
2341 tgttttaaga ccagagtgga aattcatgag aggaactata ctaccaaaag agcccaaatg
2401 accaaatcca tggataattg cttcacagcc ttggccatcc tggctcagct ctcaatttag
2461 tataatatgc agttcctgtg cctccagact atgcagctca tcaccctagg ttctacagga
2521 aatacagaga tgaacaactt tgccttcaaa aatgtgctgc ctagaaacag acctgcattc
2581 aaccaactgt aatgcaggat tggaccatga atgatatgct agaatagaag aaagagaagt
2641 gtttttttaa ttgagagcct ctatgtgcaa ggtgatatat aatcatatcc agtttaatct
2701 tcacaatatc caatgaagaa ggtctcatta tctccatgat aaagatgggg aaactaaggt
2761 cagaagggtt aactcaactg tctattgtca catgatgaat aaatagatga agtgagatac
2821 aaagctgggt ttgattcaaa gcccttactt tcctaattaa actatgatgc gtatttattt
2881 ttctgcacct tcctttcttc cacaaacaca tattgataga tgcaagagac tcttatttag
2941 aaggcgtggg ggacaagaag gatacaaggt aagtttcagt ggagctcaga ggacggggag
3001 atagaactgt ggcacttagg ggagatgaca tttgctttgg gcagaggcag ctagccagga
3061 cacatttcca ctataatttt acaaagttaa atttataagc tagcattaag taaagtgaag
3121 tccagctccc ttgctaaaaa taactagagg taataattgg tattcaggta actcatttac
3181 agtcataatg tgttgtgaaa atttaatctt aaaaattaaa tttttaaact atgtgggtct
3241 gtgaatttct ttaatgtcta agaaatccag cttcataatt tccatgatac aaagatcttt
3301 tttcaggtgg atttttacct ttgttccttt tgctctgata gacaaaatca gtttaggact
3361 attaaagaat gttttggaat aaactgtctt tttcctcaat gaatgggatg tctaatgtat
3421 ttcaaaatca cccaaaactt ttggcaaata aaagcattta aaaagacaaa aaaaaagaaa
3481 aaaaaaa
//