LOCUS BC070047 3216 bp mRNA linear HUM 17-JUL-2006
DEFINITION Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora
disease (laforin), mRNA (cDNA clone MGC:87115 IMAGE:5287405),
complete cds.
ACCESSION BC070047
VERSION BC070047.1
KEYWORDS MGC.
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 3216)
AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
CONSRTM Mammalian Gene Collection Program Team
TITLE Generation and initial analysis of more than 15,000 full-length
human and mouse cDNA sequences
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
PUBMED 12477932
REFERENCE 2 (bases 1 to 3216)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (10-MAY-2004) National Institutes of Health, Mammalian
Gene Collection (MGC), Bethesda, MD 20892-2590, USA
REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: Miklos Palkovits, M.D., Ph.D.
cDNA Library Preparation: Michael J. Brownstein (NHGRI) & Shiraki
Toshiyuki and Piero Carninci (RIKEN)
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Sequencing Group at the Stanford Human Genome
Center, Stanford University School of Medicine, Stanford, CA 94305
Web site: http://www-shgc.stanford.edu
Contact: (Dickson, Mark) mcd@paxil.stanford.edu
Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers,
R. M.
Clone distribution: MGC clone distribution information can be found
through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
Series: IRAK Plate: 168 Row: b Column: 10
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 66346727.
FEATURES Location/Qualifiers
source 1..3216
/db_xref="H-InvDB:HIT000264005"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:87115 IMAGE:5287405"
/tissue_type="Brain, hypothalamus"
/clone_lib="NIH_MGC_96"
/lab_host="DH10B"
/note="Vector: pBluescriptR"
gene 1..3216
/gene="EPM2A"
/gene_synonym="EPM2"
/gene_synonym="MELF"
/db_xref="GeneID:7957"
/db_xref="HGNC:HGNC:3413"
/db_xref="MIM:607566"
CDS 25..1020
/gene="EPM2A"
/gene_synonym="EPM2"
/gene_synonym="MELF"
/codon_start=1
/product="epilepsy, progressive myoclonus type 2A, Lafora
disease (laforin)"
/protein_id="AAH70047.1"
/db_xref="GeneID:7957"
/db_xref="HGNC:HGNC:3413"
/db_xref="MIM:607566"
/translation="MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAG
TAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGN
GPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRI
LPNIWLGSCPRQVEHVTIKLKHELGITAVMNFKTEWDIVQNSSGCNRYPEPMTPDTMI
KLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAA
VCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL"
BASE COUNT 953 a 647 c 768 g 848 t
ORIGIN
1 gtgttcgcgc cgccgccgcc agccatgcgc ttccgctttg gggtggtggt gccacccgcc
61 gtggccggcg ccaggccgga gctgctggtg gtggggtcgc ggcccgagct ggggcgttgg
121 gagccgcgcg gtgccgtccg cctgaggccg gccggcaccg cggcgggcga cggggccctg
181 gcgctgcagg agccgggcct gtggctcggg gaggtggagc tggcggccga ggaggcggcg
241 caggacgggg cggagccggg ccgcgtggac acgttctggt acaagttcct gaagcgggag
301 ccgggaggag agctctcctg ggaaggcaat ggacctcatc atgaccgttg ctgtacttac
361 aatgaaaaca acttggtgga tggtgtgtat tgtctcccaa taggacactg gattgaggcc
421 actggacaca ccaatgaaat gaagcacaca acagacttct attttaatat tgcaggccac
481 caagccatgc attattcaag aattctacca aatatctggc tgggtagctg ccctcgtcag
541 gtggaacatg taaccatcaa actgaagcat gaattgggga ttacagctgt aatgaatttc
601 aagactgaat gggatattgt acagaattcc tcaggctgta accgctaccc agagcccatg
661 actccagaca ctatgattaa actatatagg gaagaaggct tggcctacat ctggatgcca
721 acaccagata tgagcaccga aggccgagta cagatgctgc cccaggcggt gtgcctgctg
781 catgcgctgc tggagaaggg acacatcgtg tacgtgcact gcaacgctgg ggtgggccgc
841 tcaaccgcgg ctgtctgcgg ctggctccag tatgtgatgg gctggaatct gaggaaggtg
901 cagtatttcc tcatggccaa gaggccggct gtctacattg acgaagaggc cttggcccgg
961 gcacaagaag attttttcca gaaatttggg aaggttcgtt cttctgtgtg tagcctgtag
1021 ctggtcagcc tgcttctgcc ccctcctgat ttccctaagg agcctgggat gatgttggtc
1081 aaatgaccta gaaacaagga ttctacctga actgaaagga ctgtgtgacc tcccccaagc
1141 caaccacttt cacctgggat gactttcgat tatgctttgt tttggggctg tatttttgaa
1201 atactctaca agaaagctgt ggctcaacac atgagaagaa gcacgaagca gttaggctgt
1261 acatcagaca gaagggtaat gcgtgcagtt cctgctgcct gcaggcagac gaggcctttg
1321 ctttacagca ctgtatgtgt tgcacgatgg atccgtgaca gcactttcct gttgcactga
1381 aactcttggc catgtagagg aaaagatatg gagttatgtg gatttcatca ctagtatgtg
1441 tgcgtgagct ggtcagttgc caaaggagga aataaggtta gaagcctgaa ccgttacaaa
1501 agaagagctc actatggtca aaaagtgatg gctttcagga cttgtttttt atcctgcctc
1561 acagttgtta aagtctgttc caaggcatca ccttccttct ctacccaaca accctgtgta
1621 acaactaaag tagaattatc tctcatttgt tgttgttttt cctcaaaatt accaaacaaa
1681 gcaaaaaata ccattgtttt ttatagttga gatgtcaaga agttaaattg tggcttaatg
1741 agcataggta gcttgtccaa ggtctcatga ccagtcaagg gcaagctgga gttaataatc
1801 tatatttatt tgactcagca ctgttttcat cacaacttgt tttcccagca tcatgtagtg
1861 catttagttt tgtctttatc agggtatagt caatatgcct gcaggagttt ctatagcgag
1921 acatagaata gtattctgat cagttgccaa agaatatagg aaattagttg tattttgtgc
1981 aagctaattt aaaaacatga tgggctgttt taagaccaga gtggaaattc atgagaggaa
2041 ctatactacc aaaagagccc aaatgaccaa atccatggat aattgcttca cagccttggc
2101 catcctggct cagctctcaa tttagtataa tatgcagttc ctgtgcctcc agactatgca
2161 gctcatcacc ctaggttcta caggaaatac agagatgaac aactttgcct tcaaaaatgt
2221 gctgcctaga aacagacctg cattcaacca actgtaatgc aggattggac catgaatgat
2281 atgctagaat agaagaaaga gaagtgtttt tttaattgag agcctctatg tgcaaggtga
2341 tatataatca tatccagttt aatcttcaca atatccaatg aagaaggtct cgttatctcc
2401 atgataaaga tggggaaact aaggtcagaa gggttaactc aactgtctat tgtcacatga
2461 tgaataaata gatgaagtga gatacaaagc tgggtttgat tcaaagccct tactttccta
2521 attaaactat gatgcgtatt tatttttctg caccttcctt tcttccacaa acacatattg
2581 atagatgcaa gagactctta tttagaaggc gtgggggaca agaaggatac aaggtaagtt
2641 tcagtggagc tcagaggacg gggagataga actgtggcac ttaggggaga tgacatttgc
2701 tttgggcaga ggcagctagc caggacacat ttccactata attttacaaa gttaaattta
2761 taagctagca ttaagtaaag tgaagtacag ctcccttgct aaaaataact agaggtaata
2821 attggtattc aggtaactca tttacagtca taatgtgttg tgaaaattta atcttaaaaa
2881 ttaaattttt aaactatgtg ggtctgtgaa tttctttaat gtctaagaaa tccagcttca
2941 taatttccat gatacaaaga tcttttttca ggtggatttt tacctttgtt ccttttgctc
3001 tgatagacaa aatcagttta ggactattaa agaatgtttt ggaataaact gtctttttcc
3061 tcaatgaatg ggatgtctaa tgtatttcaa aatcacccaa aacttttggc aaataaaagc
3121 atttaaaaag aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
3181 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaa
//