LOCUS BC050327 4733 bp mRNA linear HUM 26-JUN-2007
DEFINITION Homo sapiens Leber congenital amaurosis 5, mRNA (cDNA clone
MGC:48608 IMAGE:4823983), complete cds.
ACCESSION BC050327
VERSION BC050327.1
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 4733)
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 4733)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (08-APR-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: Miklos Palkovits, M.D., Ph.D.
cDNA Library Preparation: Michael J. Brownstein (NHGRI) & Shiraki
Toshiyuki and Piero Carninci (RIKEN)
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: 90 Row: g Column: 11
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 32171218.
FEATURES Location/Qualifiers
source 1..4733
/db_xref="H-InvDB:HIT000053412"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:48608 IMAGE:4823983"
/tissue_type="Testis"
/clone_lib="NIH_MGC_97"
/lab_host="DH10B"
/note="Vector: pBluescriptR"
gene 1..4733
/gene="LCA5"
/db_xref="GeneID:167691"
/db_xref="HGNC:HGNC:31923"
/db_xref="MIM:604537"
CDS 613..2706
/gene="LCA5"
/codon_start=1
/product="Leber congenital amaurosis 5"
/protein_id="AAH50327.1"
/db_xref="GeneID:167691"
/db_xref="HGNC:HGNC:31923"
/db_xref="MIM:604537"
/translation="MGERAGSPGTDQEREAGKHHYSYSSDFETPQSSGRSSLVSSSPA
SVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTK
RILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPER
DDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQK
EVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQ
TMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKF
VTDEELHVVKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQN
MDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLPLLPDFESKLHSRERSPKT
YRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSFAKTSER
SNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSGP
NSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVK
AADSVEDEIEEVALR"
BASE COUNT 1639 a 812 c 961 g 1321 t
ORIGIN
1 agtctaggcc tccgcctccg ttaccctgga gcccaggtta ccgccgctgc cacccaggag
61 ccccgatcct cgcctctgtc ccatccttgt gttcaaacct cccgcatctc ggcaacctcg
121 gcacccgccc ggcagcctcc gcaggaacca ggcacccgct ctttggcggt cagacgccga
181 ggccccagct gggagtttgg tcctaagagg gaaggcaagg aggcgggacg ccgcatcggc
241 tctgctgaag agcctgcggg ttggaggtgg gctttgaagt gggcgtggag acggcggggg
301 aggtggaggt gcgagtataa atgatcaacc agaaattatc ttcaaaggaa taaaaccaga
361 agtatgtaaa taaaaagccc aagataaaga aacagaaaag ctgacactac atgaagcaga
421 gggcaaaaaa gtttatcttc tggatgccaa tgtgaattgt ggtctacaaa tacattgtgg
481 agaaaataga ttgcacagaa atgaatatta tcaggatctg aagactgtga aaatgttttt
541 cagtattgtc gtagtctcct ctggagaaaa taatctgtga aattatgtga atagagacca
601 tttttcaaaa caatggggga aagagcagga agtccaggta ctgatcaaga aagagaggca
661 ggcaaacacc attattctta ctcatctgat tttgaaacgc cacagtcttc tggccgatca
721 tcgctggtca gttcttcacc tgcaagtgtt aggagaaaaa atcctaaaag acaaacttca
781 gatggccaag tacatcacca agcccctcgg aaaccaagcc ctaagggtct accaaacaga
841 aagggagtcc gagtgggatt tcgctcccag agcctcaata gagagccact tcggaaagat
901 actgatcttg ttacaaaacg gattctgtct gcaagactgc taaaaatcaa tgagttgcag
961 aatgaagtat ctgaactcca ggtcaagtta gctgagctgc taaaagaaaa taaatctttg
1021 aaaaggcttc agtacagaca ggagaaagcc ctgaataagt ttgaagatgc cgaaaatgaa
1081 atctcacaac ttatatttcg tcataacaat gagattacag cactcaaaga acgcttaaga
1141 aaatctcaag agaaagaacg ggcaactgag aaaagggtaa aagatacaga aagtgaacta
1201 tttaggacaa aattttcctt acagaaactg aaagagatct ctgaagctag acacctacct
1261 gaacgagatg atttggcaaa gaaactagtt tcagcagagt taaagttaga tgacaccgag
1321 agaagaatta aggagctatc gaaaaacctt gaactgagta ctaacagttt ccaacgacag
1381 ttgcttgctg aaaggaaaag ggcatatgag gctcatgatg aaaataaagt tcttcaaaag
1441 gaggtacagc gactatatca caaattaaag gaaaaggaga gagaactgga tataaaaaat
1501 atatattcta atcgtctgcc aaagtcctct ccaaataaag agaaagaact tgcattaaga
1561 aaaaatgctg catgccagag tgattttgca gacctgtgta caaaaggagt acaaaccatg
1621 gaagacttca agccagaaga atatccttta actccagaaa caattatgtg ttacgaaaac
1681 aaatgggaag aaccaggaca tcttactttg gacttgcaat ctcaaaagca agacaggcat
1741 ggagaagcag ggattctaaa cccaattatg gaaagagaag aaaaatttgt tacagatgaa
1801 gaactccatg tcgtaaaaca ggaggttgaa aagctggagg atgaatggga aagagaagaa
1861 cttgataaaa agcaaaaaga aaaggcatct ttactggaaa gagaagaaaa gccagagtgg
1921 gaaactggaa ggtaccaact aggaatgtat ccaattcaga atatggataa attgcaagga
1981 gaggaagaag aaagactgaa gagagaaatg ctacttgcta aactgaatga aattgacaga
2041 gaactccaag attctcgaaa tctaaaatac cctgttttgc cattgttacc tgattttgaa
2101 tcaaaactac actcccgaga gagaagcccc aaaacataca ggttctctga atcctcagag
2161 agattattta atgggcatca tttgcaagac atcagtttct caactccaaa aggagaaggt
2221 cagaattcag gaaatgttag aagtccagcc tcccctaatg agttcgcatt tggtagctac
2281 gtgccttcgt ttgcaaaaac atcagagagg tcaaatccat ttagtcaaaa aagtagtttt
2341 ttggatttcc aaagaaacag tatggaaaaa cttagtaaag atggtgtaga tttaattaca
2401 agaaaagaga aaaaagctaa tttgatggaa cagttatttg gtgccagtgg tagcagcacc
2461 atttcctcca aaagcagtgg cccaaattct gtggcttcca gtaaaggaga cattgaccct
2521 ctaaattttc tccctgggaa taaaggcagc agagatcaag aacatgatga agatgaaggc
2581 tttttcctca gtgaaggaag aagttttaat ccaaataggc accgattaaa acatgcagac
2641 gataaaccag cagtaaaagc agctgattct gtagaagatg aaattgaaga agtagcactg
2701 agatgactga ctagagtata cattttttct aattgtaaat attgaaatat tttaatacag
2761 tatttattat aaacatttag actttttaat gctaaaatgt ccttattaag gaatgatttt
2821 taatagctaa atacaatgca gttaaaaaga agtagatcat acatacacca catagatagt
2881 ttgccaagaa tgaaggaggc ttttttgaat gaaaccaaaa ataaaaatat gtcttgaaaa
2941 atgaaataga ttttaactct tcatccagtg ctatggcaag tttaactgca ctggaggtgg
3001 tattcctttt ctacttttat tcctatttat gtatttattt ttaatcatat tctcactgtg
3061 ctaaatacag tcttcccact aattgttgaa tgaaaattaa gggtgaaagt ctgtgttggg
3121 aagtgtagct ccggatggtg gagaaccagt gcttcttagg agcccttccc tttatggata
3181 gggccagggg tccctatctt acgtggcagt cctaagctac tcttgagtga tagcagtcac
3241 aacattggga tttcccattc ctctgaaagt acccacagct aaacactact catttcccaa
3301 tttcagtatt tactgaaatc acttacctac aattctgtta ggatattatg ttgagttcgg
3361 aagacatttc tctgtttgca aggacagtta gttgctctct gtcatagccc gcagaagctt
3421 ggctacagtg taattcctct ccttgttctc ctacactctt tgtatctcag tgactgggtg
3481 taagatttca tgccaaatgc aaggaatagt ggaaatacat accaactgca aagaatagaa
3541 aaactttatc ccaatatatt atagaaagat cttcagttca attatgtcca gagtaatata
3601 atttggcaat gttaatgctt ttaagatttg aacttgtcct caaaccaagg agacaacaat
3661 agtgtaatac tattggactt acaggattag ttttaaagca actttgaata gaagtgtttc
3721 agacatagga cttctgcctt gttgactaga gtggatagtt ttctgtttaa atgcattggt
3781 cttttggctg tttgtaattc acttcagctt atagagaagt tgatgacctt ggatcatgct
3841 gggtatgatt ggtctttaaa aagcaataat ataccaccag cccaaggaga aaacattgtt
3901 aaaatgaaga gtggtggaaa tagtgtgttg ggaagaataa aaaatttaga ttggcactta
3961 ttctaaagtg agctgttttt ttcaagaatt tactagcatt tgctcgtagt atgatttctg
4021 acgccagtca tatatactga tgaggggaag gagttactgt gttattctga gttcttataa
4081 atgcatatta ttgaatttca ttgcatgact atttgtcaag acttacctgg ttaggtctcc
4141 aattaaaaga tgtaccacct gtcatcttct aaattgtgtt cctttcattt attgggaaca
4201 gaatctctca aaagtgctaa actatattaa aaagttttct taatagattt gtatgtctga
4261 tatgtataac catttactat aatatgttgc aaatcattct aatatatgta aaacaatatt
4321 atttgtaatg cagttattgg taaaatatta tgtaatgtta attttgttcc tagctgctaa
4381 tttttctgcc aaaagtattc taattttcag gttgttttaa aggcttttaa aactttttag
4441 ttaagttttt tattcacgtc atttaaatta gttttttgct ttttttctac ctgataatct
4501 ctttaacaag atgcaacaag acagaattat taaaattaaa cctaaagtta agttacagat
4561 ttaaaggcat tatgatatta agcattaaaa ttggagatta aaatgtacaa aacagggttt
4621 tccttatgaa caaaccttac agggtaaatt gttttttttt ctaaatgtca ttaaatttat
4681 ttgtactcag aactgttact aataaaaatt aaaaatgcaa aaaaaaaaaa aaa
//