LOCUS AJ130763 2805 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for LAFPTPase, isoform 1, partial.
ACCESSION AJ130763
VERSION AJ130763.1
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 2805)
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..2805
/db_xref="H-InvDB:HIT000244608"
/organism="Homo sapiens"
/chromosome="6"
/map="6q23-q25"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS <3..755
/gene="EMP2"
/product="LAFPTPase"
/note="isoform 1"
/db_xref="GOA:O95278"
/db_xref="H-InvDB:HIT000244608.13"
/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="CAA10199.1"
/translation="DTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLP
IGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHE
LGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEGR
VQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAK
RPAVYIDEEALARAQEDFFQKFGKVRSSVCSL"
BASE COUNT 816 a 557 c 631 g 801 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 gaggccttgg cccgggcaca agaagatttt ttccagaaat
721 ttgggaaggt tcgttcttct gtgtgtagcc tgtagctggt cagcctgctt ctgccccctc
781 ctgatttccc taaggagcct gggatgatgt tggtcaaatg acctagaaac aaggattcta
841 cctgaactga aaggactgtg tgacctcccc aagccaacca ctttcacctg ggatgacttt
901 cgattatgct ttgttttggg gctgtatttt tgaaatactc tacaagaaag ctgtggctca
961 acacatgaga agaagcacga agcagttagg ctgtacatca gacagaaggg taatgcgtgc
1021 agttcctgct gcctgcaggc agacgaggcc tttgctttac agcactgtat gtgttgcacg
1081 atggatccgt gacagcactt tcctgttgca ctgaaactct tggccatgta gaggaaaaga
1141 tatggagtta tgtggatttc atcactagta tgtgtgcgtg agctggtcag ttgccaaagg
1201 aggaaataag gttagaagcc tgaaccgtta caaaagaaga gctcactatg gtcaaaaagt
1261 gatggctttc aggacttgtt ttttatcctg cctcacagtt gttaaagtct gttccaaggc
1321 atcaccttcc ttctctaccc aacaaccctg tgtaacaact aaagtagaat tatctctcat
1381 ttgttgttgt ttttcctcaa aattaccaaa caaagcaaaa aatacccttg ttttttatag
1441 ttgagatgtc aagaagttaa attgaggctt aatgagcata ggtagcttgt ccaaggtctc
1501 atgaccagtc aagggcaagc tggagttaat aatctatatt tatttgactc agcactgttt
1561 tcatcacaac ttgttttccc agcatcatgt agtgcattta gttttgtctt tctcagggta
1621 tagtcaatat gcctgcagga gtttctatag cgagacatag aatagtattc tgatcagttg
1681 ccaaagaatc taggaaatta gttgtatttt gtgcaagcta atttaaaaac atgatgggct
1741 gttttaagac cagagtggaa attcatgaga ggaactatac taccaaaaga gcccaaatga
1801 ccaaatccat ggataattgc ttcacagcct tggccatcct ggctcagctc tcaatttagt
1861 ataatatgca gttcctgtgc ctccagacta tgcagctcat caccctaggt tctacaggaa
1921 atacagagat gaacaacttt gccttcaaaa aatgtgctgc ctagaaaaca gacctgcatt
1981 tcaacccaac tgtaatgcag gatttggacc atgaatgata tgctagaata gaagaaagag
2041 aagtgttttt ttaattgaga gcctctatgt gcaaggtgat atataatcat atccagttta
2101 atcttcacaa tatccaatga agaaggtctc attatctcca tgataaagat ggggaaacta
2161 aggtcagaag ggttaactca actgtctatt gtcacatgat gaataaatag atgaagtgag
2221 atacaaagct gggtttgatt caaagccctt actttcctaa ttaaactatg atgcgtattt
2281 atttttctgc accttccttt cttccacaaa cacatattga tagatgcaag agactcttat
2341 ttagaaggcg tgggggacaa gaaggataca aggtaagttt cagtggagct cagaggacgg
2401 ggagatagaa ctgtggcact taggggagat gacatttgct ttgggcagag gcagctagcc
2461 aggacacatt tccactataa ttttacaaag ttaaatttat aagctagcat taagtaaagt
2521 gaagtccagc tcccttgcta aaaataacta gaggtaataa ttggtattca ggtaactcat
2581 ttacagtcat aatgtgttgt gaaaatttaa tcttaaaaat taaattttta aactatgtgg
2641 gtctgtgaat ttctttaatg tctaagaaat ccagcttcat aatttccatg atacaaagat
2701 cttttttcag gtggattttt acctttgttc cttttgctct gatagacaaa atcagtttag
2761 gactattaaa gaatgttttg gaataaactg tctttttcct caatg
//