LOCUS BC008250 940 bp mRNA linear HUM 15-JUL-2006 DEFINITION Homo sapiens ethylmalonic encephalopathy 1, mRNA (cDNA clone MGC:9282 IMAGE:3872059), complete cds. ACCESSION BC008250 VERSION BC008250.1 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 940) 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 940) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (22-MAY-2001) 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: ATCC cDNA Library Preparation: Life Technologies, Inc. cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Baylor College of Medicine Human Genome Sequencing Center Center code: BCM-HGSC Web site: http://www.hgsc.bcm.tmc.edu/cdna/ Contact: amg@bcm.tmc.edu Gunaratne, P.H., Garcia, A.M., Lu, X., Hulyk, S.W., Loulseged, H., Kowis, C.R., Sneed, A.J., Martin, R.G., Muzny, D.M., Nanavati, A.N., Gibbs, R.A. 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: 13 Row: l Column: 23 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 41327740. FEATURES Location/Qualifiers source 1..940 /db_xref="H-InvDB:HIT000033688" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:9282 IMAGE:3872059" /tissue_type="Eye, retinoblastoma" /clone_lib="NIH_MGC_67" /lab_host="DH10B" /note="Vector: pCMV-SPORT6" gene 1..940 /gene="ETHE1" /gene_synonym="HSCO" /gene_synonym="YF13H12" /db_xref="GeneID:23474" /db_xref="HGNC:HGNC:23287" /db_xref="MIM:608451" CDS 30..794 /gene="ETHE1" /gene_synonym="HSCO" /gene_synonym="YF13H12" /codon_start=1 /product="ethylmalonic encephalopathy 1" /protein_id="AAH08250.1" /db_xref="GeneID:23474" /db_xref="HGNC:HGNC:23287" /db_xref="MIM:608451" /translation="MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRE SREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVI SRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRG CGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLS CEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA" BASE COUNT 193 a 291 c 256 g 200 t ORIGIN 1 cgctcattcc tgaccccgca gtgggcgcga tggcggaggc tgtactgagg gtcgcccggc 61 ggcagctgag ccagcgcggc gggtctggag cccccatcct cctgcggcag atgttcgagc 121 ctgtgagctg caccttcacg tacctgctgg gtgacagaga gtcccgggag gccgttctga 181 tcgacccagt cctggaaaca gcgcctcggg atgcccagct gatcaaggag ctggggctgc 241 ggctgctcta tgctgtgaat acccactgcc acgcggacca cattacaggc tcggggctgc 301 tccgttccct cctccctggc tgccagtctg tcatctcccg ccttagtggg gcccaggctg 361 acttacacat tgaggatgga gactccatcc gcttcgggcg cttcgcgttg gagaccaggg 421 ccagccctgg ccacacccca ggctgtgtca ccttcgtcct gaatgaccac agcatggcct 481 tcactggaga tgccctgttg atccgtgggt gtgggcggac agacttccag caaggctgtg 541 ccaagacctt gtaccactcg gtccatgaaa agatcttcac acttccagga gactgtctga 601 tctaccctgc tcacgattac catgggttca cagtgtccac cgtggaggag gagaggactc 661 tgaaccctcg gctcaccctc agctgtgagg agtttgtcaa aatcatgggc aacctgaact 721 tgcctaaacc tcagcagata gactttgctg ttccagccaa catgcgctgt ggggtgcaga 781 cacccactgc ctgatctcac ttctgtcaga tgctcccatc cactattaat gcactaggtg 841 ggaggagagg gcggcaatga cactgcacct ctcctttccc accgcattcc ctggagctcc 901 ctaaataaaa ctttttttaa cgtgaaaaaa aaaaaaaaaa //