LOCUS BC005286 1403 bp mRNA linear HUM 21-OCT-2003
DEFINITION Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora
disease (laforin), mRNA (cDNA clone IMAGE:3829460), complete cds.
ACCESSION BC005286
VERSION BC005286.1
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 1403)
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.
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 1403)
AUTHORS Strausberg,R.
TITLE Direct Submission
JOURNAL Submitted (27-MAR-2001) National Institutes of Health, Mammalian
Gene Collection (MGC), Cancer Genomics Office, National Cancer
Institute, 31 Center Drive, Room 11A03, 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: ATCC
cDNA Library Preparation: CLONTECH Laboratories, Inc.
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: IRAL Plate: 16 Row: k Column: 23
This clone has the following problem: The cds is short compared to
the longest cds in the locus.
FEATURES Location/Qualifiers
source 1..1403
/db_xref="H-InvDB:HIT000032347"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="IMAGE:3829460"
/tissue_type="Kidney, hypernephroma"
/clone_lib="NIH_MGC_58"
/lab_host="DH10B"
/note="Vector: pDNR-LIB"
gene 1..1403
/gene="EPM2A"
/gene_synonym="EPM2"
/gene_synonym="LAFORIN"
/gene_synonym="LD"
/gene_synonym="LDE"
/gene_synonym="MELF"
/db_xref="GeneID:7957"
/db_xref="MIM:607566"
CDS 484..750
/gene="EPM2A"
/gene_synonym="EPM2"
/gene_synonym="LAFORIN"
/gene_synonym="LD"
/gene_synonym="LDE"
/gene_synonym="MELF"
/codon_start=1
/product="EPM2A protein"
/protein_id="AAH05286.1"
/db_xref="GeneID:7957"
/db_xref="MIM:607566"
/translation="MLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGW
NLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL"
misc_feature 487..666
/gene="EPM2A"
/gene_synonym="EPM2"
/gene_synonym="LAFORIN"
/gene_synonym="LD"
/gene_synonym="LDE"
/gene_synonym="MELF"
/note="DSPc; Region: Dual specificity phosphatase,
catalytic domain"
/db_xref="CDD:smart00195"
BASE COUNT 329 a 337 c 419 g 318 t
ORIGIN
1 gcttccgctt tggggtggtg gtgccacccg ccgtggccgg cgcccggccg gagctgctgg
61 tggtggggtc gcggcccgag ctggggcgtt gggagccgcg cggtgccgtc cgcctgaggc
121 cggccggcac cgcggcgggc gacggggccc tggcgctgca ggagccgggc ctgtggctcg
181 gggaggtgga gctggcggcc gaggaggcgg cgcaggacgg ggcggagccg ggccgcgtgg
241 acacgttctg gtacaagttc ctgaagcggg agccgggagg agagctctcc tgggaaggca
301 atggacctca tcatgaccgt tgctgtactt acaatgaaaa caacttggtg gatggtgtgt
361 attgtctccc aataggacac tggattgagg ccactgggca caccaatgaa atgaagcaca
421 caacagactt ctattttaat attgcaggcc accaagccat gcattattca aggccgagta
481 cagatgctgc cccaggcggt gtgcctgctg catgcgctgc tggagaaggg acacatcgtg
541 tacgtgcact gcaacgctgg ggtgggccgc tccaccgcgg ctgtctgcgg ctggctccag
601 tatgtgatgg gctggaatct gaggaaggtg cagtatttcc tcatggccaa gaggccggct
661 gtctacattg acgaagaggc cttggcccgg gcacaagaag attttttcca gaaatttggg
721 aaggttcgtt cttctgtgtg tagcctgtag ctggtcagcc tgcttctgcc ccctcctgat
781 ttccctaagg agcctgggat gatgttggtc aaatgaccta gaaacaagga ttctacctga
841 actgaaagga ctgtgtgacc tcccccaagc caaccacttt cacctgggat gactttcgat
901 tatgctttgt tttggggctg tatttttgaa atactctaca agaaagctgt ggctcaacac
961 atgagaagaa gcacgaagca gttaggctgt acatcagaca gaagggtaat gcgtgcagtt
1021 cctgctgcct gcaggcagac gaggcctttg ctttacagca ctgtatgtgt tgcacgatgg
1081 atccgtgaca gcactttcct gttgcactga aactcttggc catgtagagg aaaagatatg
1141 gagttatgtg gatttcatca ctagtatgtg tgcgtgagct ggtcagttgc caaaggagga
1201 aataaggtta gaagcctgaa ccgttacaaa agaagagctc actatggtca aaaagtgatg
1261 gctttcagga cttgtttttt atcctgcctc acagttgtta aagtctgttc caaggcatca
1321 ccttccttct ctacccaaca accctgtgta acaactaaag tagaattatc tccaaaaaaa
1381 aaaaaaaaaa aaaaaaaaaa aaa
//