LOCUS BC144106 4251 bp mRNA linear HUM 08-JAN-2009 DEFINITION Homo sapiens oculocerebrorenal syndrome of Lowe, mRNA (cDNA clone MGC:177643 IMAGE:9052626), complete cds. ACCESSION BC144106 VERSION BC144106.1 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 4251) 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 4251) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (12-JUN-2007) 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: Mike Brownstein, NIMH cDNA Library Preparation: British Columbia Cancer Research Center 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: IRCB Plate: 17 Row: A Column: 16. FEATURES Location/Qualifiers source 1..4251 /db_xref="H-InvDB:HIT000502536" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:177643 IMAGE:9052626" /tissue_type="Pooled, cerebellum, kidney, placenta, testis, lung, colon, liver, heart, thyroid, bladder, uterus, PCR rescued clones" /clone_lib="NIH_MGC_363" /lab_host="DH10B" /note="Vector: pCR-XL-TOPO; Clone identification sequence tag: GGCCGCAC" gene 1..4251 /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 110..2791 /gene="OCRL" /gene_synonym="INPP5F" /gene_synonym="LOCR" /gene_synonym="NPHL2" /gene_synonym="OCRL1" /codon_start=1 /product="oculocerebrorenal syndrome of Lowe" /protein_id="AAI44107.1" /db_xref="GeneID:4952" /db_xref="HGNC:HGNC:8108" /db_xref="MIM:300535" /translation="MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQ LHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEE HCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNL DKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQ REGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGF QELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVEMMLLIFARKDQCR YIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKD ICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKF DQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNV NQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLE LSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYL EPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGT SLEALCRMKRPIREVPVTKLIDLEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKY ACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYE LYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLF TSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED" BASE COUNT 1139 a 1002 c 939 g 1171 t ORIGIN 1 tgttcctcaa acgacacgca gccgaggtgg gtgggtgtgg ggacgcggga gccagtgtcg 61 tcggatcggc ccgcagtccg ctgtcctgct gagcccggag gccgcctgga tggagccgcc 121 gctcccggtc ggagcccagc cgcttgccac tgtcgagggt atggagatga agggtcctct 181 ccgggagccc tgcgccctga ccctagccca gaggaacggg caatatgagt taataatcca 241 gttgcatgag aaggaacagc atgttcaaga tatcattcct ataaatagcc acttcagatg 301 tgttcaagaa gcagaagaaa ctcttttgat tgacatagct tctaacagtg gctgcaaaat 361 tcgggttcag ggggactgga tcagagagcg ccgctttgaa atccctgatg aggaacactg 421 tttgaagttc ctctcagctg tccttgctgc tcagaaagct cagtcacagc ttcttgttcc 481 agagcaaaag gactcatcta gctggtacca gaaattagac actaaggaca aaccttctgt 541 tttttcaggg cttcttggat ttgaagacaa tttttcttct atgaatttgg acaagaaaat 601 aaattcacaa aatcagccta ctgggattca tcgggaaccc ccacctccac ccttttcagt 661 gaataaaatg cttccacgtg aaaaagaagc ttctaacaag gagcagccca aagtgaccaa 721 caccatgcgg aagctctttg taccaaatac ccaatctggg cagcgggagg gtctcatcaa 781 acatatcctg gcaaagcgag agaaagaata tgtcaacatt cagactttca gattttttgt 841 tggaacttgg aatgtgaatg gccagtctcc agatagcggg ttagaacctt ggctgaactg 901 tgatcccaat cctcctgata tctactgcat tggattccaa gaactggact tgagcacaga 961 agccttcttc tactttgaat ctgtgaagga acaagaatgg tccatggctg tagagagagg 1021 tttgcattcc aaagccaagt ataagaaagt tcaactggtg cgccttgttg agatgatgct 1081 tcttatattt gccagaaagg atcagtgtcg atacattcgt gatattgcta cagaaacagt 1141 tggaactgga atcatgggga aaatgggaaa caaaggtggg gtagctgtga gatttgtatt 1201 tcacaacacc accttttgca ttgtcaattc ccatctggct gcacacgtgg aggactttga 1261 gagaaggaat caagattata aggacatttg tgcgagaatg agttttgtgg tcccaaatca 1321 gaccctcccg cagttgaaca tcatgaaaca tgaggttgtc atttggttgg gagatttgaa 1381 ttatagactt tgcatgcctg atgccaatga ggtgaaaagt cttattaata agaaagacct 1441 tcagagactc ttgaaattcg accagctaaa tattcagcgc acacagaaaa aagcttttgt 1501 tgacttcaat gaaggggaaa tcaagttcat ccccacttat aagtatgact ctaaaacaga 1561 ccggtgggat tccagtggga aatgccgggt tccagcctgg tgtgaccgaa ttctttggag 1621 aggaacaaat gttaatcagc ttaattatcg gagtcacatg gaactgaaaa ccagcgacca 1681 caagcctgtt agcgccctct tccatattgg ggtgaaggtt gtggatgaac gaaggtaccg 1741 gaaagtcttt gaagatagtg tacgcatcat ggacagaatg gaaaatgact tccttccttc 1801 cttagaactc agcaggaggg agtttgtgtt tgaaaatgtg aagtttcggc aactacaaaa 1861 ggagaagttc cagatcagca acaatggaca ggttccctgc catttttctt tcatccctaa 1921 acttaatgac agccagtact gcaagccatg gcttcgggct gaaccttttg agggctactt 1981 ggagccaaat gagacagtgg acatttctct tgatgtgtat gtcagcaaag actctgtaac 2041 catcctgaac tcgggagaag ataagattga agatattctc gtccttcacc tggatcgagg 2101 caaagattac ttcttgacta tcagtggaaa ttacctccca agttgttttg gcacatcctt 2161 agaggctctg tgccgtatga aaagaccaat ccgagaagtt cctgttacca aactcataga 2221 cttggagaaa tcccttctgc aaatggttcc tttggatgaa ggtgccagtg agagacccct 2281 tcaggttccc aaggagatct ggcttctagt agatcaccta ttcaaatacg cctgtcacca 2341 ggaggacctg ttccagaccc ctggaatgca ggaagagctc cagcagatca ttgattgtct 2401 ggataccagc attcctgaga caatccctgg cagcaaccac tctgtggctg aagcactgct 2461 cattttcttg gaagccctgc cagagccagt catctgttac gagctgtatc agcgatgtct 2521 tgactctgct tatgatcccc ggatctgccg acaggtgatc tcccagcttc cgagatgcca 2581 tagaaatgtt ttccgttact tgatggcatt ccttcgagaa ctcttaaaat tctctgaata 2641 caatagcgtc aatgccaaca tgatcgctac tctcttcact agtcttctcc tgaggcctcc 2701 acccaacctt atggcaagac agactccaag tgaccgccag cgtgctattc agttccttct 2761 gggctttctg cttgggagcg aagaagacta aggcttttac tgttctctga tattctagaa 2821 gcagacgatc tcgggctcca agtatttcag aatgatttaa aaagtcatgc cacaggaagg 2881 gtctattgca gaatttcaag ttctgtttat agtaaaaagg aagagcgttt cctaatccct 2941 cctttaccat atcctacaca gaaaaatact tttagactta tattgccaag ccaaagttac 3001 catattttgg tgtttttgtg ttttctcttt ataaggcaaa aagatctgta tttacactcc 3061 ttcacctaag gatgtgtttg ttgccctcct acccaattgt catgattgtc cttagtaccc 3121 taggcctaga ttctgagatc ttcccattct aggcctacaa gcactacttg ctgtagctga 3181 gacttgtcta gagtcctttg ttttgcactt ttgacccacc ccttcctgga tcactccttt 3241 gcactccact cccctcgttc tgtcactttg aacgaagtct gagtgaggct agtgactcct 3301 tgggtgtcct caacagtgaa ttcactgtct gcgtgcagtt attacatgca tttgtgcatt 3361 tctactacaa tggcatcttt atgtctctgt aacattggcc ttttcatggc tccacactgg 3421 gtggaaccat attctcttag atcacattta gtagcataac tgtagggact attagagatg 3481 gcatctcatc gatgagagag aatcacaatc agaatggaag cactttgagt atctgaagag 3541 tgagagcatt catgtttgac aggtcctgct tcccactatc cttttcctgt tattattcaa 3601 attttacaca aggactaatc ctgggtgtct ctgagaccca tctcctgcct agacatccac 3661 ctccagagca acactggccc cacagtaaaa gaggaagtct tgtacctcag gcaggcccat 3721 ctagagctat tgctccttcc cacagcaaag gtattgtgga tgacccttag aatccattct 3781 ctggtcttct gaaataccaa gggcagatgt cacctccttc ctcagcagga ctgactctgg 3841 gctctacaac cagctccttc acataaaggg tttagagact ccccttggct cccagtcacc 3901 atatccagtg ttgtgtaaag agactggcca acaggaccaa ccaagcacct tacctctccc 3961 atacaagatg accctctgag cttttcattt attcaagctc tgtggtacag ccttttttta 4021 aaataaatta atctatattg gttgacaaac aagccaccaa ccactgactg caaaactgcc 4081 tgatgcagtt gggttcctcc tggttttctt ttgttacaac cacccttgcc tgtttacatt 4141 aattgcaagg agcataacgt acaggctgta tgtacaatcc tgggcattga ctctgtgaca 4201 tttctagcat atccaaggca ccaccagtga tttctcctgt ttcttggtgg g //