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
//