LOCUS HSU57627 5164 bp mRNA linear HUM 08-MAR-2001 DEFINITION Human fetal brain oculocerebrorenal syndrome (OCRL1) mRNA, complete cds. ACCESSION U57627 VERSION U57627.2 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 5164) AUTHORS Nussbaum,R.L. and Olivos,I. TITLE Direct Submission JOURNAL Submitted (03-MAY-1996) NCHGR, NIH, 49 Convent Drive, Bethesda, MD 20894, USA REFERENCE 2 (bases 1 to 5164) AUTHORS Nussbaum,R.L. and Olivos,I. TITLE Direct Submission JOURNAL Submitted (08-MAR-2001) NCHGR, NIH, 49 Convent Drive, Bethesda, MD 20894, USA REMARK Sequence update by submitter COMMENT On Mar 8, 2001 this sequence version replaced U57627.1. FEATURES Location/Qualifiers source 1..5164 /db_xref="H-InvDB:HIT000220492" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq25-26" /tissue_type="brain" /dev_stage="fetal" gene 1..5164 /gene="OCRL1" CDS 166..2871 /gene="OCRL1" /note="protein deficient in oculocerebrorenal syndrome. Has phosphatidylinositol (4,5) bisphosphate 5 phosphatase activity" /codon_start=1 /product="ocrl1" /protein_id="AAB03839.2" /translation="MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQ LHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEE HCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNL DKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQ REGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGF QELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCR YIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKD ICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKF DQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNV NQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLE LSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYL EPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGT SLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWL LVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEAL PEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVN ANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED" exon 2280..2304 /gene="OCRL1" /note="alternatively spliced exon" BASE COUNT 1387 a 1187 c 1156 g 1427 t ORIGIN 1 tctcagctcc cagctccccg ctcccggctc ccggcgcccg gcgcccggcg cggagctgtt 61 cctcaaacga cacgcagccg aggtgggtgg gtgtggggac gcgggagcca gtgtcgtcgg 121 atcggcccgc agtccgctgt cctgctgagc ccggaggccg cctggatgga gccgccgctc 181 ccggtcggag cccagccgct tgccactgtc gagggtatgg agatgaaggg tcctctccgg 241 gagccctgcg ccctgaccct agcccagagg aacgggcaat atgagttaat aatccagttg 301 catgagaagg aacagcatgt tcaagatatc attcctataa atagccactt cagatgtgtt 361 caagaagcag aagaaactct tttgattgac atagcttcta acagtggctg caaaattcgg 421 gttcaggggg actggatcag agagcgccgc tttgaaatcc ctgatgagga acactgtttg 481 aagttcctct cagctgtcct tgctgctcag aaagctcagt cacagcttct tgttccagag 541 caaaaggact catctagctg gtaccagaaa ttagacacta aggacaaacc ttctgttttt 601 tcagggcttc ttggatttga agacaatttt tcttctatga atttggacaa gaaaataaat 661 tcacaaaatc agcctactgg gattcatcgg gaacccccac ctccaccctt ttcagtgaat 721 aaaatgcttc cacgtgaaaa agaagcttct aacaaggagc agcccaaagt gaccaacacc 781 atgcggaagc tctttgtacc aaatacccaa tctgggcagc gggagggtct catcaaacat 841 atcctggcaa agcgagagaa agaatatgtc aacattcaga ctttcagatt ttttgttgga 901 acttggaatg tgaatggcca gtctccagat agcgggttag aaccttggct gaactgtgat 961 cccaatcctc ctgatatcta ctgcattgga ttccaagaac tggacttgag cacagaagcc 1021 ttcttctact ttgaatctgt gaaggaacaa gaatggtcca tggctgtaga gagaggtttg 1081 cattccaaag ccaagtataa gaaagttcaa ctggtgcgcc ttgttgggat gatgcttctt 1141 atatttgcca gaaaggatca gtgtcgatac attcgtgata ttgctacaga aacagttgga 1201 actggaatca tggggaaaat gggaaacaaa ggtggggtag ctgtgagatt tgtatttcac 1261 aacaccacct tttgcattgt caattcccat ctggctgcac acgtggagga ctttgagaga 1321 aggaatcaag attataagga catttgtgcg agaatgagtt ttgtggtccc aaatcagacc 1381 ctcccgcagt tgaacatcat gaaacatgag gttgtcattt ggttgggaga tttgaattat 1441 agactttgca tgcctgatgc caatgaggtg aaaagtctta ttaataagaa agaccttcag 1501 agactcttga aattcgacca gctaaatatt cagcgcacac agaaaaaagc ttttgttgac 1561 ttcaatgaag gggaaatcaa gttcatcccc acttataagt atgactctaa aacagaccgg 1621 tgggattcca gtgggaaatg ccgggttcca gcctggtgtg accgaattct ttggagagga 1681 acaaatgtta atcagcttaa ttatcggagt cacatggaac tgaaaaccag cgaccacaag 1741 cctgttagcg ccctcttcca tattggggtg aaggttgtgg atgaacgaag gtaccggaaa 1801 gtctttgaag atagtgtacg catcatggac agaatggaaa atgacttcct tccttcctta 1861 gaactcagca ggagggagtt tgtgtttgaa aatgtgaagt ttcggcaact acaaaaggag 1921 aagttccaga tcagcaacaa tggacaggtt ccctgccatt tttctttcat ccctaaactt 1981 aatgacagcc agtactgcaa gccatggctt cgggctgaac cttttgaggg ctacttggag 2041 ccaaatgaga cagtggacat ttctcttgat gtgtatgtca gcaaagactc tgtaaccatc 2101 ctgaactcgg gagaagataa gattgaagat attctcgtcc ttcacctgga tcgaggcaaa 2161 gattacttct tgactatcag tggaaattac ctcccaagtt gttttggcac atccttagag 2221 gctctgtgcc gtatgaaaag accaatccga gaagttcctg ttaccaaact catagacttg 2281 gaagaagaca gcttcctaga aaaggagaaa tcccttctgc aaatggttcc tttggatgaa 2341 ggtgccagtg agagacccct tcaggttccc aaggagatct ggcttctagt agatcaccta 2401 ttcaaatacg cctgtcacca ggaggacctg ttccagaccc ctggaatgca ggaagagctc 2461 cagcagatca ttgattgtct ggataccagc attcctgaga caatccctgg cagcaaccac 2521 tctgtggctg aagcactgct cattttcttg gaagccctgc cagagccagt catctgttac 2581 gagctgtatc agcgatgtct tgactctgct tatgatcccc ggatctgccg acaggtgatc 2641 tcccagcttc cgagatgcca tagaaatgtt ttccgttact tgatggcatt ccttcgagaa 2701 ctcttaaaat tctctgaata caatagcgtc aatgccaaca tgatcgctac tctcttcact 2761 agtcttctcc tgaggcctcc acccaacctt atggcaagac agactccaag tgaccgccag 2821 cgtgctattc agttccttct gggctttctg cttgggagcg aagaagacta aggcttttac 2881 tgttctctga tattctagaa gcagacgatc tcgggctcca agtatttcag aatgatttaa 2941 aaagtcatgc cacaggaagg gtctattgca gaatttcaag ttctgtttat agtaaaaagg 3001 aagagcgttt cctaatccct cctttaccat atcctacaca gaaaaatact tttagactta 3061 tattgccaag ccaaagttac catattttgg tgtttttgtg ttttctcttt ataaggcaaa 3121 aagatctgta tttacactcc ttcacctaag gatgtgtttg ttgccctcct acccaattgt 3181 catgattgtc cttagtaccc taggcctaga ttctgagatc ttcccattct aggcctacaa 3241 gcactacttg ctgtagctga gacttgtcta gagtcctttg ttttgcactt ttgacccacc 3301 ccttcctgga tcactccttt gcactccact cccggaattc ctgtcacttt gaacgaagtc 3361 tgagtgaggc tagtgactcc ttgggtgtcc tcaacagtga attcactgtc tgcgtgcagt 3421 tattacatgc atttgtgcat tctactacaa tggcatcttt atgtctctgt aacattggcc 3481 ttttcatggc tccacactgg gtggaaggat attctcttag atcacattta gtagcataac 3541 tgtagggact attagagatg gcatctcatc gatgagagag aatcacaatc agaatggaag 3601 cactttgagt atctgaagag tgagagcatt catgtttgac aggtcctgct tcccactatc 3661 cttttcctgt tattattcaa attttacaca aggactaatc ctgggtgtct ctgagaccca 3721 tctcctgcct agacatccac ctccagagca acactggccc cacagtaaaa gaggaagtct 3781 tgtacctcag gcaggcccat ctagagctat tgctccttcc cacagcaaag gtattgtgga 3841 tgacccttag aatccattct ctggtcttct gaaataccaa gggcagatgt cacctccttc 3901 ctcagcagga ctgactctgg gctctacaac cagctccttc acataaaggg tttagagact 3961 ccccttggct cccagtcacc atatccagtg ttgtgtaaag agactggcca acaggaccaa 4021 ccaagcacct tacctctccc atacaagatg accctctgag cttttcattt attcaagctc 4081 tgtggtacag ccttttttta aaataaatta atctatattg gttgacaaac aagccaccaa 4141 ccactgactg caaaactgcc tgatgcagtt gggttcctcc tggttttctt ttgttacaac 4201 cacccttgcc tgtttacatt aattgcaagg agcataacgt acaggctgta tgtacaatcc 4261 tgggcattga ctctgtgaca tttctagcat atccaaggca ccaccagtga tttctcctgt 4321 ttcttggtgg gggtgggggg gaaggttacg tattctgcaa tatggctaaa ccctttcctg 4381 attgagagtt aaagcaatag gagtcaagtt actggtgcca cagatctgga ggtatgatag 4441 gtcaggggct aggtgttgaa cttagttaat ggaagactga gagcagaaca ggtttgtcan 4501 tctccgcaag gccagaaagt ntcacaaaaa gaggcagatg atagacactg gggtagggtc 4561 ataccacagg gaaatacctt tcctggcttg ttttctagca tatcactgac ctgggatctt 4621 tgggtganna agggtgtggn nactggaggc tctgtgcagc acgtgatgca gatcctatct 4681 ctttctacat cagatcaaaa cactaagttg gtgtactgcc tcgacctttt ttcagctcat 4741 cctggaacat atacagagtt gagagtttta gacaatctct aggtagagga gacaagaatg 4801 tagacccaga cagaagaaat ctgcttccct accatggcta ttccagcacc cgaacctgta 4861 attgccaagt ccctaaggta ctaatttgta gctgctctga agtaaggatt tcggattcag 4921 ctggtnaaag actctgtcac ctgctgtctt cagggaagaa atggttcaaa tccatgtggt 4981 gacattgcat tagtctccct ttcactgttt tcttattctg taattgtttg ttatatttcc 5041 caaaaacgtc ttgatcacta agcaaagctg ctagtggcat tctatatttc gtgtcatctt 5101 ttttattata atttattgca aatttttttc tgaataaata tatgttgtgt gaaaaaaaaa 5161 aaaa //