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
//