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
//