LOCUS BC094726 5149 bp mRNA linear HUM 17-JUL-2006 DEFINITION Homo sapiens oculocerebrorenal syndrome of Lowe, mRNA (cDNA clone MGC:104549 IMAGE:30528571), complete cds. ACCESSION BC094726 VERSION BC094726.1 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 5149) 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 5149) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (06-MAY-2005) 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. Stefan Hansson cDNA Library Preparation: Michael Brownstein / Ted Usdin Laboratory 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: 198 Row: n Column: 20 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 21396493. FEATURES Location/Qualifiers source 1..5149 /db_xref="H-InvDB:HIT000335027" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:104549 IMAGE:30528571" /tissue_type="Placenta, normal" /clone_lib="NIH_MGC_147" /lab_host="DH10B" /note="Vector: pBluescriptR" gene 1..5149 /gene="OCRL" /gene_synonym="INPP5F" /gene_synonym="LOCR" /gene_synonym="NPHL2" /gene_synonym="OCRL1" /db_xref="GeneID:4952" /db_xref="HGNC:HGNC:8108" /db_xref="MIM:300535" CDS 170..2851 /gene="OCRL" /gene_synonym="INPP5F" /gene_synonym="LOCR" /gene_synonym="NPHL2" /gene_synonym="OCRL1" /codon_start=1 /product="oculocerebrorenal syndrome of Lowe" /protein_id="AAH94726.1" /db_xref="GeneID:4952" /db_xref="HGNC:HGNC:8108" /db_xref="MIM:300535" /translation="MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQ LHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEE HCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNL DKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQ REGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGF QELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCR YIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKD ICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLGMPDANEVKSLINKKDLQRLLKF DQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNV NQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLE LSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYL EPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGT SLEALCRMKRPIREVPVTKLIDLEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKY ACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYE LYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLF TSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED" BASE COUNT 1377 a 1186 c 1156 g 1430 t ORIGIN 1 agattctcag ctcccagctc cccgctcccg gctcccggcg cccggcgccc ggcgcggagc 61 tgttcctcaa acgacacgca gccgaggtgg gtgggtgtgg ggacgcggga gccagtgtcg 121 tcggatcggc ccgcagtccg ctgtcctgct gagcccggag gccgcctgga tggagccgcc 181 gctcccggtc ggagcccagc cgcttgccac tgtcgagggt atggagatga agggtcctct 241 ccgggagccc tgcgccctga ccctagccca gaggaacggg caatatgagt taataatcca 301 gttgcatgag aaggaacagc atgttcaaga tatcattcct ataaatagcc acttcagatg 361 tgttcaagaa gcagaagaaa ctcttttgat tgacatagct tctaacagtg gctgcaaaat 421 tcgggttcag ggggactgga tcagagagcg ccgctttgaa atccctgatg aggaacactg 481 tttgaagttc ctctcagctg tccttgctgc tcagaaagct cagtcacagc ttcttgttcc 541 agagcaaaag gactcatcta gctggtacca gaaattagac actaaggaca aaccttctgt 601 tttttcaggg cttcttggat ttgaagacaa tttttcttct atgaatttgg acaagaaaat 661 aaattcacaa aatcagccta ctgggattca tcgggaaccc ccacctccac ccttttcagt 721 gaataaaatg cttccacgtg aaaaagaagc ttctaacaag gagcagccca aagtgaccaa 781 caccatgcgg aagctctttg taccaaatac ccaatctggg cagcgggagg gtctcatcaa 841 acatatcctg gcaaagcgag agaaagaata tgtcaacatt cagactttca gattttttgt 901 tggaacttgg aatgtgaatg gccagtctcc agatagcggg ttagaacctt ggctgaactg 961 tgatcccaat cctcctgata tctactgcat tggattccaa gaactggact tgagcacaga 1021 agccttcttc tactttgaat ctgtgaagga acaagaatgg tccatggctg tagagagagg 1081 tttgcattcc aaagccaagt ataagaaagt tcaactggtg cgccttgttg ggatgatgct 1141 tcttatattt gccagaaagg atcagtgtcg atacattcgt gatattgcta cagaaacagt 1201 tggaactgga atcatgggga aaatgggaaa caaaggtggg gtagctgtga gatttgtatt 1261 tcacaacacc accttttgca ttgtcaattc ccatctggct gcacacgtgg aggactttga 1321 gagaaggaat caagattata aggacatttg tgcgagaatg agttttgtgg tcccaaatca 1381 gaccctcccg cagttgaaca tcatgaaaca tgaggttgtc atttggttgg gagatttgaa 1441 ttatagactt ggcatgcctg atgccaatga ggtgaaaagt cttattaata agaaagacct 1501 tcagagactc ttgaaattcg accagctaaa tattcagcgc acacagaaaa aagcttttgt 1561 tgacttcaat gaaggggaaa tcaagttcat ccccacttat aagtatgact ctaaaacaga 1621 ccggtgggat tccagtggga aatgccgggt tccagcctgg tgtgaccgaa ttctttggag 1681 aggaacaaat gttaatcagc ttaattatcg gagtcacatg gaactgaaaa ccagcgacca 1741 caagcctgtt agcgccctct tccatattgg ggtgaaggtt gtggatgaac gaaggtaccg 1801 gaaagtcttt gaagatagtg tacgcatcat ggacagaatg gaaaatgact tccttccttc 1861 cttagaactc agcaggaggg agtttgtgtt tgaaaatgtg aagtttcggc aactacaaaa 1921 ggagaagttc cagatcagca acaatggaca ggttccctgc catttttctt tcatccctaa 1981 acttaatgac agccagtact gcaagccatg gcttcgggct gaaccttttg agggctactt 2041 ggagccaaat gagacagtgg acatttctct tgatgtgtat gtcagcaaag actctgtaac 2101 catcctgaac tcgggagaag ataagattga agatattctc gtccttcacc tggatcgagg 2161 caaagattac ttcttgacta tcagtggaaa ttacctccca agttgttttg gcacatcctt 2221 agaggctctg tgccgtatga aaagaccaat ccgagaagtt cctgttacca aactcataga 2281 cttggagaaa tcccttctgc aaatggttcc tttggatgaa ggtgccagtg agaggcccct 2341 tcaggttccc aaggagatct ggcttctagt agatcaccta ttcaaatacg cctgtcacca 2401 ggaggacctg ttccagaccc ctggaatgca ggaagagctc cagcagatca ttgattgtct 2461 ggataccagc attcctgaga caatccctgg cagcaaccac tctgtggctg aagcactgct 2521 cattttcttg gaagccctgc cagagccagt catctgttac gagctgtatc agcgatgtct 2581 tgactctgct tatgatcccc ggatctgccg acaggtgatc tcccagcttc cgagatgcca 2641 tagaaatgtt ttccgttact tgatggcatt ccttcgagaa ctcttaaaat tctctgaata 2701 caatagcgtc aatgccaaca tgatcgctac tctcttcact agtcttctcc tgaggcctcc 2761 acccaacctt atggcaagac agactccaag tgaccgccag cgtgctattc agttccttct 2821 gggctttctg cttgggagcg aagaagacta aggcttttac tgttctctga tattctagaa 2881 gcagacgatc tcgggctcca agtatttcag aatgatttaa aaagtcatgc cacaggaagg 2941 gtctattgca gaatttcaag ttctgtttat agtaaaaagg aagagcgttt cctaatccct 3001 cctttaccat atcctacaca gaaaaatact tttagactta tattgccaag ccaaagttac 3061 catattttgg tgtttttgtg ttttctcttt ataaggcaaa aagatctgta tttacactcc 3121 ttcacctagg gatgtgtttg ttgccctcct acccaattgt catgattgtc cttagtaccc 3181 taggcctaga ttctgagatc ttcccattct aggcctacaa gcactacttg ctgtagctga 3241 gacttgtcta gagtcctttg ttttgcactt ttgacccacc ccttcctgga tcactccttt 3301 gcactccact cccctcgttc tgtcactttg aacgaagtct gagtgaggct agtgactcct 3361 tgggtgtcct caacagtgaa ttcactgtct gcgtgcagtt attacatgca tttgtgcatt 3421 tctactacaa tggcatcttt atgtctctgt aacattggcc ttttcatggc tccacactgg 3481 gtggaaccat attctcttag atcacattta gtagcataac tgtagggact attagagatg 3541 gcatctcatc gatgagagag aatcacaatc agaatggaag cactttgagt atctgaagag 3601 tgagagcatt catgtttgac aggtcctgct tcccactatc cttttcctgt tattattcaa 3661 attttacaca aggactaatc ctgggtgtct ctgagaccca tctcctgcct agacatccac 3721 ctccagagca acactggccc cacagtaaaa gaggaagtct tgtacctcag gcaggcccat 3781 ctagagctat tgctccttcc cacagcaaag gtattgtgga tgacccttag aatccattct 3841 ctggtcttct gaaataccaa gggcagatgt cacctccttc ctcagcagga ctgactctgg 3901 gctctacaac cagctccttc acataaaggg tttagagact ccccttggct cccagtcacc 3961 atatccagtg ttgtgtaaag agactggcca acaggaccaa ccaagcacct tacctctccc 4021 atacaagatg accctctgag cttttcattt attcaagctc tgtggtacag ccttttttta 4081 aaataaatta atctatattg gttgacaaac aagccaccaa ccactgactg caaaactgcc 4141 tgatgcagtt gggttcctcc tggttttctt ttgttacaac cacccttgcc tgtttacatt 4201 aattgcaagg agcataacgt acaggctgta tgtacaatcc tgggcattga ctctgtgaca 4261 tttctagcat atccaaggca ccaccagtga tttctcctgt ttcttggtgg gggtgggggg 4321 gaaggtacgt attctgcaat atggctaaac cctttcctga ttgagagtta aagcaatagg 4381 agtcaagtta ctggtgccac agatctggag gtatgatagg tcaggggcta ggtgttgaac 4441 ttagttaatg gaagactgag agcagaacag gtttgtcatc tccgcaaggc cagaaagtga 4501 tcacaaaaag aggcagatga tagacactgg ggtagggtca taccacaggg aaataccttt 4561 cctgggcttg ttttctagca tatcactgac ctgggatctt tgggtgatca agggtgtggt 4621 tagtggaggc tctgtgctgc acgtatgcag tatcctatct ctttctacat cagatcaaaa 4681 cactaagttg gtgtactgcc tcgacctttt tttcagctca tcctggaaca tatacagagt 4741 tgagagtttt agacaatctc taggtagagg agacaagatg tagacccaga cagaagaaat 4801 ctgcttccct accatggcta ttccagcacc ccaacctgta attgccaagt cctctaaggt 4861 actaatttgt agctgctctg aagtaaggat ttcggattca gctggtaggg aaagactctg 4921 cacctgctgt cttagggaag aaatggttca aatccatgtg gtgacattgc attagtctcc 4981 ctttcactgt tttcttattc tgtaattgtt tgttatattt cccaaaaacg tcttgatcac 5041 taagcaaagc tgctagtggg attctatatt tcgtgtcatc ttttttatta taatttattg 5101 caaatttttt tctgaataaa tatatgttgt gcgaaaaaaa aaaaaaaaa //