LOCUS BC075805 5080 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens optic atrophy 1 (autosomal dominant), mRNA (cDNA clone
MGC:87850 IMAGE:4214698), complete cds.
ACCESSION BC075805
VERSION BC075805.1
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 5080)
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 5080)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (06-JUL-2004) 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: David N. Louis, M.D.
cDNA Library Preparation: Life Technologies, Inc.
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Sequencing Group at the Stanford Human Genome
Center, Stanford University School of Medicine, Stanford, CA 94305
Web site: http://www-shgc.stanford.edu
Contact: (Dickson, Mark) mcd@paxil.stanford.edu
Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers,
R. M.
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: 166 Row: b Column: 5
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 18860844.
FEATURES Location/Qualifiers
source 1..5080
/db_xref="H-InvDB:HIT000265620"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:87850 IMAGE:4214698"
/tissue_type="Brain, anaplastic oligodendroglioma with
1p/19q loss"
/clone_lib="NCI_CGAP_Brn67"
/lab_host="DH10B"
/note="Vector: pCMV-SPORT6"
gene 1..5080
/gene="OPA1"
/gene_synonym="FLJ12460"
/gene_synonym="KIAA0567"
/gene_synonym="largeG"
/gene_synonym="NPG"
/gene_synonym="NTG"
/db_xref="GeneID:4976"
/db_xref="HGNC:HGNC:8140"
/db_xref="MIM:605290"
CDS 155..3037
/gene="OPA1"
/gene_synonym="FLJ12460"
/gene_synonym="KIAA0567"
/gene_synonym="largeG"
/gene_synonym="NPG"
/gene_synonym="NTG"
/codon_start=1
/product="optic atrophy 1 (autosomal dominant)"
/protein_id="AAH75805.1"
/db_xref="GeneID:4976"
/db_xref="HGNC:HGNC:8140"
/db_xref="MIM:605290"
/translation="MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSH
HPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRY
LILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPNSE
DLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQL
QEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLS
DYDASYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEG
PHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQ
RMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTD
LVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGYFAVVTGKGNS
SESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADS
FKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSL
WERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFS
RFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQ
WDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKM
LKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQVYRRHFLKTALNHCNLC
RRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVL
EDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK"
BASE COUNT 1625 a 914 c 1051 g 1490 t
ORIGIN
1 ccatgcgcca ttgggagggc ctcggccgcg gctctgtgcc cttgctgctg agggccactt
61 cctgggtcat tcctggaccg ggagccgggc tggggctcac acgggggctc ccgcgtggcc
121 gtctcggcgc ctgcgtgacc tccccgccgg cgggatgtgg cgactacgtc gggccgctgt
181 ggcctgtgag gtctgccagt ctttagtgaa acacagctct ggaataaaag gaagtttacc
241 actacaaaaa ctacatctgg tttcacgaag catttatcat tcacatcatc ctaccttaaa
301 gcttcaacga ccccaattaa ggacatcctt tcagcagttc tcttctctga caaaccttcc
361 tttacgtaaa ctgaaattct ctccaattaa atatggctac cagcctcgca ggaatttttg
421 gccagcaaga ttagctacga gactcttaaa acttcgctat ctcatactag gatcggctgt
481 tgggggtggc tacacagcca aaaagacttt tgatcagtgg aaagatatga taccggacct
541 tagtgaatat aaatggattg tgcctgacat tgtgtgggaa attgatgagt atatcgattt
601 tgagaaaatt agaaaagccc ttcctaattc agaagacctt gtaaagttag caccagactt
661 tgacaagatt gttgaaagcc ttagcttatt gaaggacttt tttacctcag gttctccgga
721 agaaacggcg tttagagcaa cagatcgtgg atctgaaagt gacaagcatt ttagaaaggt
781 gtcagacaaa gagaaaattg accaacttca ggaagaactt ctgcacactc agttgaagta
841 tcagagaatc ttggaacgat tagaaaagga gaacaaagaa ttgagaaaat tagtattgca
901 gaaagatgac aaaggcattc atcatagaaa gcttaagaaa tctttgattg acatgtattc
961 tgaagttctt gatgttctct ctgattatga tgccagttat aatacgcaag atcatctgcc
1021 acgggttgtt gtggttggag atcagagtgc tggaaagact agtgtgttgg aaatgattgc
1081 ccaagctcga atattcccaa gaggatctgg ggagatgatg acacgttctc cagttaaggt
1141 gactctgagt gaaggtcctc accatgtggc cctatttaaa gatagttctc gggagtttga
1201 tcttaccaaa gaagaagatc ttgcagcatt aagacatgaa atagaacttc gaatgaggaa
1261 aaatgtgaaa gaaggctgta ccgttagccc tgagaccata tccttaaatg taaaaggccc
1321 tggactacag aggatggtgc ttgttgactt accaggtgtg attaatactg tgacatcagg
1381 catggctcct gacacaaagg aaactatttt cagtatcagc aaagcttaca tgcagaatcc
1441 taatgccatc atactgtgta ttcaagatgg atctgtggat gctgaacgca gtattgttac
1501 agacttggtc agtcaaatgg accctcatgg aaggagaacc atattcgttt tgaccaaagt
1561 agacctggca gagaaaaatg tagccagtcc aagcaggatt cagcagataa ttgaaggaaa
1621 gctcttccca atgaaagctt taggttattt tgctgttgta acaggaaaag ggaacagctc
1681 tgaaagcatt gaagctataa gagaatatga agaagagttt tttcagaatt caaagctcct
1741 aaagacaagc atgctaaagg cacaccaagt gactacaaga aatttaagcc ttgcagtatc
1801 agactgcttt tggaaaatgg tacgagagtc tgttgaacaa caggctgata gtttcaaagc
1861 aacacgtttt aaccttgaaa ctgaatggaa gaataactat cctcgcctgc gggaacttga
1921 ccggaatgaa ctatttgaaa aagctaaaaa tgaaatcctt gatgaagtta tcagtctgag
1981 ccaggttaca ccaaaacatt gggaggaaat ccttcaacaa tctttgtggg aaagagtatc
2041 aactcatgtg attgaaaaca tctaccttcc agctgcgcag accatgaatt caggaacttt
2101 taacaccaca gtggatatca agcttaaaca gtggactgat aaacaacttc ctaataaagc
2161 agtagaggtt gcttgggaga ccctacaaga agaattttcc cgctttatga cagaaccgaa
2221 agggaaagag catgatgaca tatttgataa acttaaagag gccgttaagg aagaaagtat
2281 taaacgacac aagtggaatg actttgcgga ggacagcttg agggttattc aacacaatgc
2341 tttggaagac cgatccatat ctgataaaca gcaatgggat gcagctattt attttatgga
2401 agaggctctg caggctcgtc tcaaggatac tgaaaatgca attgaaaaca tggtgggtcc
2461 agactggaaa aagaggtggt tatactggaa gaatcggacc caagaacagt gtgttcacaa
2521 tgaaaccaag aatgaattgg agaagatgtt gaaatgtaat gaggagcacc cagcttatct
2581 tgcaagtgat gaaataacca cagtccggaa gaaccttgaa tcccgaggag tagaagtaga
2641 tccaagcttg attaaggata cttggcatca agtttataga agacattttt taaaaacagc
2701 tctaaaccat tgtaaccttt gtcgaagagg tttttattac taccaaaggc attttgtaga
2761 ttctgagttg gaatgcaatg atgtggtctt gttttggcgt atacagcgca tgcttgctat
2821 caccgcaaat actttaaggc aacaacttac aaatactgaa gttaggcgat tagagaaaaa
2881 tgttaaagag gtattggaag attttgctga agatggtgag aagaagatta aattgcttac
2941 tggtaaacgc gttcaactgg cggaagacct caagaaagtt agagaaattc aagaaaaact
3001 tgatgctttc attgaagctc ttcatcagga gaaataaatt aaaatcgtac tcataatcag
3061 ctctgcatac atctgaagaa caaaaacatc aacgtctttt gtccagcctc tttttcttct
3121 gctgttccac ctttctaaac atacaataaa gtcatgggat aaaaataatc gatgtatgtt
3181 acgggcgctt taaccatcag ctgcctctcg aatggaagaa cagtggtaat ggattaacat
3241 cctattttgt tgtactaaag tgacaaatcg gaataatata attggtatgg ccattaggtt
3301 cagtccttga agataagaag cttgttctct gtttgttgtc ttatttgtgg tggcactcgt
3361 ttaatggatt aactgaggtt gctcaatgtt cagtttcttt tccagaaata caatgctagg
3421 tgttttgaaa taaaacttat atagcaattg tttaaagtta tcaattgtat ataaaatcac
3481 agtagcctgc taaatcattg tatgtgtctg tagtattcta ttcccagaaa ctatttgacc
3541 atgataattc agtttatatt caccacatga aagaaaaatg ggtaacagaa gaacccctaa
3601 aacaggttaa tttggattgt aacgttcagt gaaagaaatt tcaacccttc atagccagcg
3661 aagaaatttg ccttggaagc caagtcagta ccagcttacc tatttgattc agttgctgtt
3721 ttctcactct ctatatccat ttgaaattga tttattttag atgttgtata cttacgttag
3781 gctttctgtt aatagtggtt tttctcctgt tgacagagcc accggattat gacacaggat
3841 gaggaagatt aaggataatc aattgactaa tttcatttag aatattatca aacatttcaa
3901 ctaggtatca gaaaaaggct ttctttcata agactatttt aaatagaaat tatttcaaca
3961 attaaagtaa tgttgaccat ccccctctca gctgaataaa gaaaaattta gttcaattta
4021 ttgcaattta attacaatac taccttcaca acattttcat gtgttttaaa taaatatttt
4081 ttaattggct aaaggacatt caagcaaaga aatgctttct ttacttaaaa tgtctatctc
4141 atttgctgct ttttcactaa gcctttactt tgttaataaa agtgtccatt gtgtgatgtt
4201 tttgatttta cagtttgcta aatcttattt tcttggagtt gctttttggt aacagcccca
4261 ttgctactcc ccattttatt gttttacatc aatgcatgct tcgttgtgat ccctcaagat
4321 gtaacacttg gtatgctcgg ttgaggatat gaaaaaatac ttccgaaacc aggaattcag
4381 tgtatgtttg ttttatactg tttgataaga aaagtaggtc cagccttaag cagcacagat
4441 gcgctggtag atgcatagtc aggaactttt tttatttctt ttaggtctag ggacaggagt
4501 gaatagaaag ggaggagagc tctattatgt tctatacaca gattaggaga tgaccttact
4561 gggtacaccc ctctaaccag tgcttacagg ttaatgcatg ttaatgaata tttttgcagt
4621 tgtaaagcat aacaattaca actacacatc tatttctaaa gaataaaaca ggaccatatt
4681 tatttacttc tgtcaactat agaaagaaag accttcagct gtatttccac agatttctcc
4741 caaggaaaag gctaatatta gtcactactg ttatcacatc cctttgtata agttttaaaa
4801 agagatggag ggagatcttc atttctttga ggagatcagt attgtaacgt atgtgaatag
4861 atgataacaa ttaatattac taaaagtccc acatgagagt cctgacgccc tctccatgcc
4921 ccacagtaat gtggcttctt tcatgggttt ttttttcttc tttttagctg atctcatcct
4981 aagcatgctt tatttttcct tgaaagctag gtatttatca actgcagatg ttattgaaag
5041 aaaataaaat tcagtctcaa gagtaaaaaa aaaaaaaaaa
//