LOCUS AJ130764 1037 bp mRNA linear HUM 15-APR-2005 DEFINITION Homo sapiens mRNA for LAFPTPase, isoform 2, partial. ACCESSION AJ130764 VERSION AJ130764.1 KEYWORDS EPM2 gene; LAFPTPase. 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 1037) AUTHORS Serratosa J.M. JOURNAL Submitted (28-SEP-1998) to the INSDC. Serratosa J.M., Servicio de neurologia, Fundacion Jimenez Diaz, Avda. Reyes Catolicos 2, 28040-MADRID, SPAIN. REFERENCE 2 AUTHORS Serratosa J.M., Gomez-Garre P., Gallardo E., Anta B., Beltran-Valero de Bernabe D., Lindhout D., Augustin P.B., Tassinari C., Michelucci R., Malafosse A., Topcu M., Grid D., Dravet C., Berkovic S., Rodriguez de Cordoba S. TITLE A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) JOURNAL Hum. Mol. Genet. 8(2), 345-352(1999). PUBMED 9931343 FEATURES Location/Qualifiers source 1..1037 /db_xref="H-InvDB:HIT000244609" /organism="Homo sapiens" /chromosome="6" /map="6q23-q25" /mol_type="mRNA" /db_xref="taxon:9606" CDS <3..713 /gene="EPM2" /product="LAFPTPase" /note="isoform 2" /db_xref="GOA:O95278" /db_xref="H-InvDB:HIT000244609.12" /db_xref="HGNC:HGNC:3413" /db_xref="InterPro:IPR000340" /db_xref="InterPro:IPR000387" /db_xref="InterPro:IPR002044" /db_xref="InterPro:IPR013783" /db_xref="InterPro:IPR013784" /db_xref="InterPro:IPR016130" /db_xref="InterPro:IPR020422" /db_xref="InterPro:IPR029021" /db_xref="InterPro:IPR034831" /db_xref="PDB:4R30" /db_xref="PDB:4RKK" /db_xref="UniProtKB/Swiss-Prot:O95278" /protein_id="CAA10200.1" /translation="DTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLP IGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHE LGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEGR VQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAK RPAVYIDEEAASQDTFPL" BASE COUNT 296 a 215 c 241 g 285 t ORIGIN 1 tggacacgtt ctggtacaag ttcctgaagc gggagccggg aggagagctc tcctgggaag 61 gcaatggacc tcatcatgac cgttgctgta cttacaatga aaacaacttg gtggatggtg 121 tgtattgtct cccaatagga cactggattg aggccactgg gcacaccaat gaaatgaagc 181 acacaacaga cttctatttt aatattgcag gccaccaagc catgcattat tcaagaattc 241 taccaaatat ctggctgggt agctgccctc gtcaggtgga acatgttacc atcaaactga 301 agcatgaatt ggggattaca gctgtaatga atttccagac tgaatgggat attgtacaga 361 attcctcagg ctgtaaccgc tacccagagc ccatgactcc agacactatg attaaactat 421 atagggaaga aggcttggcc tacatctgga tgccaacacc agatatgagc accgaaggcc 481 gagtacagat gctgccccag gcggtgtgcc tgctgcatgc gctgctggag aagggacaca 541 tcgtgtacgt gcactgcaac gctggggtgg gccgctccac cgcggctgtc tgcggctggc 601 tccagtatgt gatgggctgg aatctgagga aggtgcagta tttcctcatg gccaagaggc 661 cggctgtcta cattgacgaa gaggcagcta gccaggacac atttccacta taattttaca 721 aagttaaatt tataagctag cattaagtaa agtgaagtcc agctcccttg ctaaaaataa 781 ctagaggtaa taattggtat tcaggtaact catttacagt cataatgtgt tgtgaaaatt 841 taatcttaaa aattaaattt ttaaactatg tgggtctgtg aatttcttta atgtctaaga 901 aatccagctt cataatttcc atgatacaaa gatctttttt caggtggatt tttacctttg 961 ttccttttgc tctgatagac aaaatcagtt taggactatt aaagaatgtt ttggaataaa 1021 ctgtcttttt cctcaat //