LOCUS BC005059 1549 bp mRNA linear HUM 15-JUL-2006 DEFINITION Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), mRNA (cDNA clone MGC:12948 IMAGE:2957964), complete cds. ACCESSION BC005059 VERSION BC005059.1 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 1549) 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 1549) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (26-MAR-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: DCTD/DTP cDNA Library Preparation: Rubin Laboratory 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: IRAL Plate: 18 Row: a Column: 18 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 13376716. FEATURES Location/Qualifiers source 1..1549 /db_xref="H-InvDB:HIT000032191" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:12948 IMAGE:2957964" /tissue_type="Kidney, renal cell adenocarcinoma" /clone_lib="NIH_MGC_14" /lab_host="DH10B-R" /note="Vector: pOTB7" gene 1..1549 /gene="OPA3" /gene_synonym="FLJ22187" /gene_synonym="MGA3" /db_xref="GeneID:80207" /db_xref="HGNC:HGNC:8142" /db_xref="MIM:606580" CDS 22..561 /gene="OPA3" /gene_synonym="FLJ22187" /gene_synonym="MGA3" /codon_start=1 /product="optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)" /protein_id="AAH05059.1" /db_xref="GeneID:80207" /db_xref="HGNC:HGNC:8142" /db_xref="MIM:606580" /translation="MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLP PAQLYHWVEMRTKMRIMGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYW RHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVR AQLCNPGRSASHAVPASKK" BASE COUNT 352 a 436 c 459 g 302 t ORIGIN 1 gtgccctgtg agaccgccaa gatggtggtg ggcgcgttcc ctatggcgaa gctgctatac 61 ttgggcatcc ggcaggtcag caagccgctt gccaaccgta ttaaggaggc cgcccgccga 121 agcgagttct tcaagaccta tatctgcctc ccgccggctc aactgtatca ctgggtggag 181 atgcggacca agatgcgcat catgggcttc cggggcacgg tcatcaagcc gctgaacgag 241 gaggcggcag ccgagctggg cgcagagctg ctgggcgaag ccaccatctt catcgtgggc 301 ggcggctgcc tagtgctgga gtactggcgc caccaggcgc agcagcgcca caaggaggag 361 gagcagcgtg ctgcctggaa cgcgctgcgg gacgaggtgg gccacctggc gctggcgctg 421 gaagcgctgc aggcgcaggt gcaggcggcg ccgccacagg gcgccctgga ggaactgcgc 481 acagagctgc aagaggtgcg cgcccagctc tgcaatcccg gccggtccgc ttcccacgca 541 gtgcctgcgt ccaagaaata ggagcttgct ggatggaacc tgaatttgga catggcctat 601 gtacctaacg tggccttctt cccgcaccac ccttgcctgc gctggcccag tggaaaccac 661 caggatcttg atgcaacttg gcatttggtt acccctgctg ataagagcag ccattacctg 721 ccactgggac cagcaggtga agcgttgcaa catagccccc tccatcatcc ttcacctcct 781 atcccccact ccaaaccagg acgacctgca aggtcccagc cagcaggaca ccgtgggcac 841 tctggcaaat gaaaaaatgg aacctggtct tgagctgaat caatgtgtta ttgttacccc 901 cacccccggt ttacctgatc agtgttaacc tttactggga cactcatctg ttacactgga 961 acaccttctt ctttttgtca atcggcacag accactgtaa ggaaatgcag tgtgttgcag 1021 tggccttttc tccccctcac cttctaaggt cagctctagc tgagcatcag tgctctctta 1081 aggaggaaaa aaacggtgcg gctgggagcg gtggctcacg cctgtaatcc tagcaccttg 1141 ggaggccgag gcgggcggat cacttgaggt caggagttcc agaccagcct ggccaacaag 1201 gtgaaactcc gtctctacta aaaatacaaa aattagccgg gtgtggtggg gtgcgcttgt 1261 aatcccagct actcgggagg ctgaggcagg agaattgctt gaacccatga ggtggaggtt 1321 gcggtgagcc aagatggcac cattgcaccc tagcctgggc aacagagcaa gacaccgtct 1381 taaaaccaaa agttaaccgg gcgtggtggt gggtgcctgt aatcctagct acttgggagg 1441 ctgaggcagg agaattgctt gaacttggga ggtggaggcc aagattgtac cactgtattc 1501 cagcccgggt gacagagcaa gactgtgtct caaaaaaaaa aaaaaaaaa //