LOCUS BC136825 1342 bp mRNA linear HUM 11-FEB-2009 DEFINITION Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), mRNA (cDNA clone MGC:168439 IMAGE:9020816), complete cds. ACCESSION BC136825 VERSION BC136825.1 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 1342) 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 1342) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (29-MAR-2007) 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: Mike Brownstein, NIMH cDNA Library Preparation: British Columbia Cancer Research Center cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Genome Sequence Centre, BC Cancer Agency, Vancouver, BC, Canada info@bcgsc.bc.ca Martin Hirst, Thomas Zeng, Ryan Morin, Michelle Moksa, Johnson Pang, Diana Mah, Jing Wang, Kieth Fichter, Eric Chuah, Allen Delaney, Rob Kirkpatrick, Agnes Baross, Sarah Barber, Mabel Brown-John, Steve S. Chand, William Chow, Ryan Babakaiff, Dave Wong, Corey Matsuo, Jaclyn Beland, Susan Gibson, Luis delRio, Ruth Featherstone, Malachi Griffith, Obi Griffith, Ran Guin, Nancy Liao, Kim MacDonald, Mike R. Mayo, Josh Moran, Diana Palmquist, JR Santos, Duane Smailus, Jeff Stott, Miranda Tsai, George Yang, Jacquie Schein, Asim Siddiqui,Steven Jones, Rob Holt, Marco Marra. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRCB Plate: 13 Row: A Column: 16 single stranded. FEATURES Location/Qualifiers source 1..1342 /db_xref="H-InvDB:HIT000500810" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:168439 IMAGE:9020816" /tissue_type="Brain, cerebellum, PCR rescued clones" /clone_lib="NIH_MGC_311" /note="Vector: pCR4-TOPO with reversed insert; Clone identification sequence tag: AGTTAACG" gene 1..1342 /gene="CLN8" /db_xref="GeneID:2055" /db_xref="HGNC:HGNC:2079" /db_xref="MIM:607837" CDS 87..1019 /gene="CLN8" /codon_start=1 /product="ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)" /protein_id="AAI36826.1" /db_xref="GeneID:2055" /db_xref="HGNC:HGNC:2079" /db_xref="MIM:607837" /translation="MSSVENGGHWKRVARRGNARASGGGQPGVGSARVSCLSFMLGRR CCVHVRKHLIACQKFPPLCACQVFDQVRTLVLCECAHADRSGGAPSLCPHAAEPRGSP APQACGSAAKCVRCASWVLLCALSYGDTGGVGLDRYRSDYGDTGGVRLDRYRSDYGGT GGVGLDRYRSDYGGTGGVGLDRYRSDYGGTGGVGLDRYRSDYGGTGGVGLDRYRSDYG GTGGVGLDRYRSDYGGTGGVGLDRYRSDYGGTGGVGLDRYRSDYGDTGGVGLDRYRSD YGGTGCVGLDRYRSDYGGTGGVGLDRYWSDARAP" BASE COUNT 264 a 334 c 489 g 255 t ORIGIN 1 ttaccacggt aagggcaggg ctgggaggct gggcagccag tttcaccctc gcacaggctg 61 cctggcaaga ccagcggctg gaggtgatgt cctcagtaga gaacggtggc cactggaaac 121 gtgtggccag aaggggaaac gctcgggcct ctggtggggg ccagcctggg gtggggtcgg 181 ccagggtcag ctgcctttcc ttcatgctgg ggaggagatg ttgtgtgcat gtgagaaagc 241 atttgatagc atgccaaaag tttcctccat tatgtgcgtg tcaagtgttt gaccaggtca 301 gaactcttgt tctatgcgaa tgtgctcacg cagacagaag cggaggggct ccgtcgctct 361 gccctcacgc cgctgaaccg cgagggtctc ccgctcctca ggcttgcggc tcggccgcga 421 agtgtgtcag gtgtgcatcc tgggtgctcc tttgtgctct gtcctacggt gacacaggcg 481 gcgtggggtt agacaggtac cggtcagact acggtgacac aggcggcgtg cggttagaca 541 ggtaccggtc agattacggt ggcacaggcg gcgtggggtt agacaggtac cggtcagatt 601 acggtggcac aggcggcgtg gggttagaca ggtaccggtc agattacggt ggcacaggcg 661 gcgtggggtt agacaggtac cggtcagatt acggtggcac aggcggcgtg gggttagaca 721 ggtaccggtc agattacggt ggcacaggcg gcgtggggtt agacaggtac cggtcagatt 781 acggtggcac aggcggcgtg gggttagaca ggtaccggtc agattacggt ggcacaggcg 841 gcgtggggtt agacaggtac cggtcagatt acggtgacac aggcggcgtg gggttagaca 901 ggtaccggtc agattacggt ggcacaggct gcgtggggtt agacaggtac cggtcagatt 961 acggtggcac aggcggcgtg gggttagaca ggtactggtc agatgcacgg gctccctaaa 1021 cccctgctgt ggcttcggca gtaaagacag gacgcaccca tgtcacaaga ggagcacagg 1081 caggggtgtt ggtgttgggg cagccctcag ggtctccaga ccccagcccc actcacacag 1141 cagcctagga aggaagggca gagtcccagg tgtcagctgg tgggtctccc aggagctgcc 1201 cctccctgga agtcacagga caggaatgac agatcaggga actgcaggaa gctgccacct 1261 ctggggtcag aatatgccca gcctgcgggg gctctctatc ggggtcttcg agagccagac 1321 agcctgcctt gtgctgcata cc //