LOCUS BC064146 1866 bp mRNA linear HUM 15-JUL-2006 DEFINITION Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), mRNA (cDNA clone MGC:75494 IMAGE:30378779), complete cds. ACCESSION BC064146 VERSION BC064146.1 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 1866) 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 1866) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (11-DEC-2003) 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: Dr. Michael Brownstein cDNA Library Preparation: Invitrogen Corp 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: IRAK Plate: 141 Row: m Column: 15 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 63055069. FEATURES Location/Qualifiers source 1..1866 /db_xref="H-InvDB:HIT000261288" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:75494 IMAGE:30378779" /tissue_type="Testis" /clone_lib="NIH_MGC_180" /lab_host="DH10B" /note="Vector: pCMV-SPORT6.1" gene 1..1866 /gene="OPA3" /gene_synonym="FLJ22187" /gene_synonym="MGA3" /db_xref="GeneID:80207" /db_xref="HGNC:HGNC:8142" /db_xref="MIM:606580" CDS 13..555 /gene="OPA3" /gene_synonym="FLJ22187" /gene_synonym="MGA3" /codon_start=1 /product="optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)" /protein_id="AAH64146.1" /db_xref="GeneID:80207" /db_xref="HGNC:HGNC:8142" /db_xref="MIM:606580" /translation="MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLP PAQLYHWLEMRTKMRIMGFNAAAIKPLNEGAAAELGAELLGEGIIFITACSCLMLEYW RHQLQQRRKEKERRVAREALRGEVGHLGLALEELQAQVQATSTQLALEELRAQLQEVR AHLCLRDPPPAPPVAPASEK" BASE COUNT 363 a 622 c 480 g 401 t ORIGIN 1 gagaccgcca agatggtggt gggcgcgttc cctatggcga agctgctata cttgggcatc 61 cggcaggtca gcaagccgct tgccaaccgt attaaggagg ccgcccgccg aagcgagttc 121 ttcaagacct atatctgcct cccgccggct caactgtacc actggctgga gatgcggacc 181 aaaatgcgca tcatgggttt caatgccgct gccatcaagc cgctgaacga gggtgcagcc 241 gccgagctgg gcgcggagct gctgggcgag ggcatcatct tcatcaccgc ctgcagctgc 301 ctgatgctgg agtattggcg ccaccagttg cagcagcgcc gcaaggaaaa ggagcgacgt 361 gttgccaggg aggcgctgcg gggcgaggtg ggccacttgg ggctggcgct cgaggagttg 421 caggcgcagg tgcaggcgac gtcgacgcag ctcgccctgg aggagctgcg cgctcagctg 481 caggaggtgc gagcccacct ctgcctccga gacccgccgc ctgcaccccc agttgcgccg 541 gcgtccgaga aataggaggt ctcggggccc tggtcttgga ggtgactgct gtctggactg 601 cgaagtctct gtcttggcct attctccgca ctgtcccatc ctggaccggc ccagctgaca 661 ccacccagtc cttcgggggc gccggagaga tcctgggctg gagctgatcg aacctcccta 721 ctaacctgcc cagtggtacc ttccactggg actctccgcc tcctgcaggt ggaacgttcc 781 aagaaggacc ccgccctatc ccaccccgcc cctgccagcg catttgttga gcactttgga 841 aagacagcgt cttttatcag accccacctc cctaccgcta ggtaggccag caggacgtcc 901 acctcttttg gcaaaacaaa attctgcacc cggatttagc cacctctcat tctgtcaccc 961 gcaccctcac tcacctgagt ggacccttcc cctaggacgc tcatcctttg caccgaacac 1021 cacctacctc ctcctcattg gtacagacca ttgtaaagat gcacaaagtt cctacggact 1081 tcccgacccg cccccttcca tctacctcag tcttaggggg aaaggtgggg gtgaatcctg 1141 gactgcgtta gctccaatga gtcaccaccc tgcggctcct gaccttaatc catcttagta 1201 cctgtcattg acatcctccc ctccctgagt ggatcgatcc aacataaccc ccctcttctt 1261 ccgcctatgg cgcaccccac tggcatggct atgctgggtc ttccagggaa acgcctccca 1321 gcccggcatt ctgtggtctg ttccagcagg acgtggcctt ttgggaggaa aaaccggtct 1381 tgaccagggc tagtccattc tggctttcag gctcagtcac ttggtcacca gtccccagtc 1441 ctggacctac tgctactgtc cttttatccg gtcctccctc gctgtcctct tcagttgcct 1501 ttgctaggga ccggcctgtc cctttactac ctaagtcatc gtcagttcgc ccaacttccc 1561 tccaaatctg cccctcacgg tacgcaggga tcgcccttcc ttcctgcctt tggactggtc 1621 caggtcctcc tccgccctcc ttcacgcaaa ggcctcctcc agggggacta cctgtccctc 1681 agcccagagg tccccctgtc caagcggggt attccaccag gccatatgac ctacccaccc 1741 gacaactgaa gggggcgtgg atgagctctg tgactctgaa tgctacttta taaatcgact 1801 gtcagcgttt tctaattaaa ggagctctgg ggtaaagatc ttaaaaaaaa aaaaaaaaaa 1861 aaaaaa //