LOCUS HUMOCRL 4353 bp mRNA linear HUM 08-MAR-2001 DEFINITION Homo sapiens Lowe oculocerebrorenal syndrome protein (OCRL) mRNA, complete cds. ACCESSION M88162 M86675 VERSION M88162.2 KEYWORDS . 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 4353) AUTHORS Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R. and Nussbaum,R.L. TITLE The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase JOURNAL Nature 358 (6383), 239-242 (1992) PUBMED 1321346 REFERENCE 2 (bases 1 to 4353) AUTHORS Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R. and Nussbaum,R.L. TITLE Direct Submission JOURNAL Submitted (03-OCT-1992) Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6145, USA REFERENCE 3 (bases 1 to 4353) AUTHORS Nussbaum,R.L. TITLE Direct Submission JOURNAL Submitted (08-MAR-2001) Genetic Disease Research Branch, NHGRI, NIH, 49 Convent Drive MSC4472, Bethesda, MD 20892-4472, USA REMARK Sequence update by submitter COMMENT On Mar 8, 2001 this sequence version replaced M88162.1. FEATURES Location/Qualifiers source 1..4353 /db_xref="H-InvDB:HIT000196693" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq25-q26.1" /tissue_type="kidney" gene 1..4353 /gene="OCRL" CDS 16..2922 /gene="OCRL" /note="similar to inositol polyphosphate-5-phophatase" /codon_start=1 /product="Lowe oculocerebrorenal syndrome protein" /protein_id="AAA59964.2" /db_xref="GDB:G00-119-461" /translation="MKFFVFKSFLSDCYRSLLDKSQLPAPRSRLPAPGARRGAVPQTT RSRGGWVWGRGSQCRRIGPQSAVLLSPEAAWMEPPLPVGAQPLATVEGMEMKGPLREP CALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIR VQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPS VFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPK VTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLE PWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLV RLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSH LAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDAN EVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGK CRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFED SVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLND SQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGK DYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEKSLLQMVPLDEGASERP LQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAE ALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELL KFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED" BASE COUNT 1159 a 1035 c 969 g 1190 t ORIGIN 1 tcagcctgaa catggatgaa gttttttgtt tttaagagct tccttagtga ttgttatagg 61 agcctcctag acaagtctca gctcccagct ccccgctccc ggctcccggc gcccggcgcc 121 cggcgcggag ctgttcctca aacgacacgc agccgaggtg ggtgggtgtg gggacgcggg 181 agccagtgtc gtcggatcgg cccgcagtcc gctgtcctgc tgagcccgga ggccgcctgg 241 atggagccgc cgctcccggt cggagcccag ccgcttgcca ctgtcgaggg tatggagatg 301 aagggtcctc tccgggagcc ctgcgccctg accctagccc agaggaacgg gcaatatgag 361 ttaataatcc agttgcatga gaaggaacag catgttcaag atatcattcc tataaatagc 421 cacttcagat gtgttcaaga agcagaagaa actcttttga ttgacatagc ttctaacagt 481 ggctgcaaaa ttcgggttca gggggactgg atcagagagc gccgctttga aatccctgat 541 gaggaacact gtttgaagtt cctctcagct gtccttgctg ctcagaaagc tcagtcacag 601 cttcttgttc cagagcaaaa ggactcatct agctggtacc agaaattaga cactaaggac 661 aaaccttctg ttttttcagg gcttcttgga tttgaagaca atttttcttc tatgaatttg 721 gacaagaaaa taaattcaca aaatcagcct actgggattc atcgggaacc cccacctcca 781 cccttttcag tgaataaaat gcttccacgt gaaaaagaag cttctaacaa ggagcagccc 841 aaagtgacca acaccatgcg gaagctcttt gtaccaaata cccaatctgg gcagcgggag 901 ggtctcatca aacatatcct ggcaaagcga gagaaagaat atgtcaacat tcagactttc 961 agattttttg ttggaacttg gaatgtgaat ggccagtctc cagatagcgg gttagaacct 1021 tggctgaact gtgatcccaa tcctcctgat atctactgca ttggattcca agaactggac 1081 ttgagcacag aagccttctt ctactttgaa tctgtgaagg aacaagaatg gtccatggct 1141 gtagagagag gtttgcattc caaagccaag tataagaaag ttcaactggt gcgccttgtt 1201 gggatgatgc ttcttatatt tgccagaaag gatcagtgtc gatacattcg tgatattgct 1261 acagaaacag ttggaactgg aatcatgggg aaaatgggaa acaaaggtgg ggtagctgtg 1321 agatttgtat ttcacaacac caccttttgc attgtcaatt cccatctggc tgcacacgtg 1381 gaggactttg agagaaggaa tcaagattat aaggacattt gtgcgagaat gagttttgtg 1441 gtcccaaatc agaccctccc gcagttgaac atcatgaaac atgaggttgt catttggttg 1501 ggagatttga attatagact ttgcatgcct gatgccaatg aggtgaaaag tcttattaat 1561 aagaaagacc ttcagagact cttgaaattc gaccagctaa atattcagcg cacacagaaa 1621 aaagcttttg ttgacttcaa tgaaggggaa atcaagttca tccccactta taagtatgac 1681 tctaaaacag accggtggga ttccagtggg aaatgccggg ttccagcctg gtgtgaccga 1741 attctttgga gaggaacaaa tgttaatcag cttaattatc ggagtcacat ggaactgaaa 1801 accagcgacc acaagcctgt tagcgccctc ttccatattg gggtgaaggt tgtggatgaa 1861 cgaaggtacc ggaaagtctt tgaagatagt gtacgcatca tggacagaat ggaaaatgac 1921 ttccttcctt ccttagaact cagcaggagg gagtttgtgt ttgaaaatgt gaagtttcgg 1981 caactacaaa aggagaagtt ccagatcagc aacaatggac aggttccctg ccatttttct 2041 ttcatcccta aacttaatga cagccagtac tgcaagccat ggcttcgggc tgaacctttt 2101 gagggctact tggagccaaa tgagacagtg gacatttctc ttgatgtgta tgtcagcaaa 2161 gactctgtaa ccatcctgaa ctcgggagaa gataagattg aagatattct cgtccttcac 2221 ctggatcgag gcaaagatta cttcttgact atcagtggaa attacctccc aagttgtttt 2281 ggcacatcct tagaggctct gtgccgtatg aaaagaccaa tccgagaagt tcctgttacc 2341 aaactcatag acttggagaa atcccttctg caaatggttc ctttggatga aggtgccagt 2401 gagagacccc ttcaggttcc caaggagatc tggcttctag tagatcacct attcaaatac 2461 gcctgtcacc aggaggacct gttccagacc cctggaatgc aggaagagct ccagcagatc 2521 attgattgtc tggataccag cattcctgag acaatccctg gcagcaacca ctctgtggct 2581 gaagcactgc tcattttctt ggaagccctg ccagagccag tcatctgtta cgagctgtat 2641 cagcgatgtc ttgactctgc ttatgatccc cggatctgcc gacaggtgat ctcccagctt 2701 ccgagatgcc atagaaatgt tttccgttac ttgatggcat tccttcgaga actcttaaaa 2761 ttctctgaat acaatagcgt caatgccaac atgatcgcta ctctcttcac tagtcttctc 2821 ctgaggcctc cacccaacct tatggcaaga cagactccaa gtgaccgcca gcgtgctatt 2881 cagttccttc tgggctttct gcttgggagc gaagaagact aaggctttta ctgttctctg 2941 atattctaga agcagacgat ctcgggctcc aagtatttca gaatgattta aaaagtcatg 3001 ccacaggaag ggtctattgc agaatttcaa gttctgttta tagtaaaaag gaagagcgtt 3061 tcctaatccc tcctttacca tatcctacac agaaaaatac ttttagactt atattgccaa 3121 gccaaagtta ccatattttg gtgtttttgt gttttctctt tataaggcaa aaagatctgt 3181 atttacactc cttcacctaa ggatgtgttt gttgccctcc tacccaattg tcatgattgt 3241 ccttagtacc ctaggcctag attctgagat cttcccattc taggcctaca agcactactt 3301 gctgtagctg agacttgtct agagtccttt gttttgcact tttgacccac cccttcctgg 3361 atcactcctt tgcactccac tcccggaatt cctgtcactt tgaacgaagt ctgagtgagg 3421 ctagtgactc cttgggtgtc ctcaacagtg aattcactgt ctgcgtgcag ttattacatg 3481 catttgtgca ttctactaca atggcatctt tatgtctctg taacattggc cttttcatgg 3541 ctccacactg ggtggaagga tattctctta gatcacattt agtagcataa ctgtagggac 3601 tattagagat ggcatctcat cgatgagaga gaatcacaat cagaatggaa gcactttgag 3661 tatctgaaga gtgagagcat tcatgtttga caggtcctgc ttcccactat ccttttcctg 3721 ttattattca aattttacac aaggactaat cctgggtgtc tctgagaccc atctcctgcc 3781 tagacatcca cctccagagc aacactggcc ccacagtaaa agaggaagtc ttgtacctca 3841 ggcaggccca tctagagcta ttgctccttc ccacagcaaa ggtattgtgg atgaccctta 3901 gaatccattc tctggtcttc tgaaatacca agggcagatg tcacctcctt cctcagcagg 3961 actgactctg ggctctacaa ccagctcctt cacataaagg gtttagagac tccccttggc 4021 tcccagtcac catatccagt gttgtgtaaa gagactggcc aacaggacca accaagcacc 4081 ttacctctcc catacaagat gaccctctga gcttttcatt tattcaagct ctgtggtaca 4141 gccttttttt aaaataaatt aatctatatt ggttgacaaa caagccacca accactgact 4201 gcaaaactgc ctgatgcagt tgggttcctc ctggttttct tttgttacaa ccacccttgc 4261 ctgtttacat taattgcaag gagcataacg tacaggctgt atgtacaatc ctgggcattg 4321 actctgtgac atttctagca tatccaaggc acc //