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
//