LOCUS       NM_177215               5198 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus OCRL, inositol polyphosphate-5-phosphatase (Ocrl),
            mRNA.
ACCESSION   NM_177215
VERSION     NM_177215.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 5198)
  AUTHORS   Choi,W.Y., Kim,S., Aurass,P., Huo,W., Creasey,E.A., Edwards,M.,
            Lowe,M. and Isberg,R.R.
  TITLE     SdhA blocks disruption of the Legionella-containing vacuole by
            hijacking the OCRL phosphatase
  JOURNAL   Cell Rep 37 (5), 109894 (2021)
   PUBMED   34731604
  REMARK    GeneRIF: SdhA blocks disruption of the Legionella-containing
            vacuole by hijacking the OCRL phosphatase.
REFERENCE   2  (bases 1 to 5198)
  AUTHORS   Wang,B., He,W., Prosseda,P.P., Li,L., Kowal,T.J., Alvarado,J.A.,
            Wang,Q., Hu,Y. and Sun,Y.
  TITLE     OCRL regulates lysosome positioning and mTORC1 activity through
            SSX2IP-mediated microtubule anchoring
  JOURNAL   EMBO Rep 22 (7), e52173 (2021)
   PUBMED   33987909
  REMARK    GeneRIF: OCRL regulates lysosome positioning and mTORC1 activity
            through SSX2IP-mediated microtubule anchoring.
REFERENCE   3  (bases 1 to 5198)
  AUTHORS   Hooper,J.E., Jones,K.L., Smith,F.J., Williams,T. and Li,H.
  TITLE     An Alternative Splicing Program for Mouse Craniofacial Development
  JOURNAL   Front Physiol 11, 1099 (2020)
   PUBMED   33013468
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5198)
  AUTHORS   Festa,B.P., Berquez,M., Gassama,A., Amrein,I., Ismail,H.M.,
            Samardzija,M., Staiano,L., Luciani,A., Grimm,C., Nussbaum,R.L., De
            Matteis,M.A., Dorchies,O.M., Scapozza,L., Wolfer,D.P. and
            Devuyst,O.
  TITLE     OCRL deficiency impairs endolysosomal function in a humanized mouse
            model for Lowe syndrome and Dent disease
  JOURNAL   Hum Mol Genet 28 (12), 1931-1946 (2019)
   PUBMED   30590522
  REMARK    GeneRIF: These studies substantiate the first mouse model of Lowe
            syndrome and give insights into the role of OCRL in cellular
            trafficking of multiligand receptors. These insights open new
            avenues for therapeutic interventions in Lowe syndrome and Dent
            disease.
REFERENCE   5  (bases 1 to 5198)
  AUTHORS   Rohacek,A.M., Bebee,T.W., Tilton,R.K., Radens,C.M.,
            McDermott-Roe,C., Peart,N., Kaur,M., Zaykaner,M., Cieply,B.,
            Musunuru,K., Barash,Y., Germiller,J.A., Krantz,I.D., Carstens,R.P.
            and Epstein,D.J.
  TITLE     ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative
            Splicing that Disrupt Cochlear Development
  JOURNAL   Dev Cell 43 (3), 318-331 (2017)
   PUBMED   29107558
REFERENCE   6  (bases 1 to 5198)
  AUTHORS   Weber,S.S., Ragaz,C. and Hilbi,H.
  TITLE     The inositol polyphosphate 5-phosphatase OCRL1 restricts
            intracellular growth of Legionella, localizes to the replicative
            vacuole and binds to the bacterial effector LpnE
  JOURNAL   Cell Microbiol 11 (3), 442-460 (2009)
   PUBMED   19021631
  REMARK    GeneRIF: The results indicate that OCRL1 restricts intracellular
            growth of L. pneumophila and binds to Legionella-containing
            vacuoles in association with Legionella LpnE.
REFERENCE   7  (bases 1 to 5198)
  AUTHORS   Blewitt,M.E., Gendrel,A.V., Pang,Z., Sparrow,D.B., Whitelaw,N.,
            Craig,J.M., Apedaile,A., Hilton,D.J., Dunwoodie,S.L.,
            Brockdorff,N., Kay,G.F. and Whitelaw,E.
  TITLE     SmcHD1, containing a structural-maintenance-of-chromosomes hinge
            domain, has a critical role in X inactivation
  JOURNAL   Nat Genet 40 (5), 663-669 (2008)
   PUBMED   18425126
REFERENCE   8  (bases 1 to 5198)
  AUTHORS   Hellsten,E., Evans,J.P., Bernard,D.J., Janne,P.A. and Nussbaum,R.L.
  TITLE     Disrupted sperm function and fertilin beta processing in mice
            deficient in the inositol polyphosphate 5-phosphatase Inpp5b
  JOURNAL   Dev Biol 240 (2), 641-653 (2001)
   PUBMED   11784089
REFERENCE   9  (bases 1 to 5198)
  AUTHORS   Janne,P.A., Suchy,S.F., Bernard,D., MacDonald,M., Crawley,J.,
            Grinberg,A., Wynshaw-Boris,A., Westphal,H. and Nussbaum,R.L.
  TITLE     Functional overlap between murine Inpp5b and Ocrl1 may explain why
            deficiency of the murine ortholog for OCRL1 does not cause Lowe
            syndrome in mice
  JOURNAL   J Clin Invest 101 (10), 2042-2053 (1998)
   PUBMED   9593760
REFERENCE   10 (bases 1 to 5198)
  AUTHORS   Nussbaum,R.L., Orrison,B.M., Janne,P.A., Charnas,L. and
            Chinault,A.C.
  TITLE     Physical mapping and genomic structure of the Lowe syndrome gene
            OCRL1
  JOURNAL   Hum Genet 99 (2), 145-150 (1997)
   PUBMED   9048911
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068146.1.
            
            On Apr 5, 2004 this sequence version replaced NM_177215.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068146.1, AK041963.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849382
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5198
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 25.43 cM"
     gene            1..5198
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /note="OCRL, inositol polyphosphate-5-phosphatase"
                     /db_xref="GeneID:320634"
                     /db_xref="MGI:MGI:109589"
     exon            1..236
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..2900
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /EC_number="3.1.3.56"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="inositol polyphosphate 5-phosphatase OCRL-1;
                     oculocerebrorenal syndrome of Lowe; phosphatidylinositol
                     3,4,5-triphosphate 5-phosphatase"
                     /codon_start=1
                     /product="inositol polyphosphate 5-phosphatase OCRL"
                     /protein_id="NP_796189.2"
                     /db_xref="CCDS:CCDS40957.1"
                     /db_xref="GeneID:320634"
                     /db_xref="MGI:MGI:109589"
                     /translation="MEPRLPIGAQPLAMVAGLEMKGPLREPCVLTLARRNGQYELIIQ
                     LHGKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWTRERHFEIPDEE
                     RCLKFLSEVLEAQEAQSQLLVPEQKDSSSWYQKLDTMDKPAYSGLLGFEDNFSSLDLD
                     KKMNTQNPRSGSHREPPPPPSSSTRMLSREKEASNKEQPKVTNTMRKLFVPNTQTGQR
                     EGLIKHILTKREKEYVNIQSFRFFVGTWNVNGQSPDSSLEPWLDCDPNPPDIYCIGFQ
                     ELDLSTEAFFYFESVKEQEWSLAVERGLPSKAKYRKVQLVRLVGMMLLIFARKDQCQY
                     IRDVATETTGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEEFERRNQDYKDI
                     CARMTFSVPNQTVPQVNIMKHDVVIWLGDLNYRLCMPDASEVKSLINKNELHKLLKFD
                     QLNIQRTQKKAFADFNEGEINFVPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGINVN
                     QLHYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDIVRIMDRMENDFLPSLEL
                     SRREFFFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLE
                     PNETLDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTIGGNYLPSCFGTS
                     LEALCRMKRPIREVPVTKLIDLEEDSYLEKEKSLLQMVPLDEGTSERPLQVPKEIWLL
                     VDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGNNHSVAEALLIFLEALP
                     EPVICYELYQRCLDSAHDPRICKQVISQLPRCHRNVFRYLMAFLRELLKFSDYNNINT
                     NMIATLFSSLLLRPPPNLMTRQTPNDRQHAIQFLLVFLLGNEED"
     exon            237..316
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            317..396
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            397..435
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            436..546
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            547..633
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            634..754
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            755..916
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1018
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1133
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1250
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1438
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1550
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1660
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1796
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..1907
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..2073
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2074..2309
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..2333
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2450
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2451..2535
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2536..2663
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2664..2775
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2776..5184
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5166..5171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /note="hexamer: AATATA"
     polyA_site      5184
                     /gene="Ocrl"
                     /gene_synonym="9530014D17Rik; OCRL1"
                     /note="major polyA site"
ORIGIN      
        1 gtctctctcc tcccggctct aaagctcccc ggctggctcc cgggctcccg ggttcccggg
       61 ctcccgggct tccaggctcc cagcgctgga gcccttcctc tccgcctagg cgaggcaggc
      121 cggcggcagg ccgcaggagg tggtgtcgtg gaatccgctg gcagtccgca gccccgcaga
      181 gcctggaggc cgccctgatg gagccgcggc tcccgattgg agctcagccc ctggcaatgg
      241 tggcgggttt ggagatgaag ggtcccctcc gggaaccctg cgtcctgacc ctagcccgga
      301 ggaatgggca gtatgagtta ataatccagt tgcatggaaa ggaacaacat gttcaagata
      361 tcattcctat aaatagccac ttcagatgtg ttcaagaagc agaagaaact cttttgattg
      421 atattgcttc aaacagtggc tgcaaaattc gggtacaggg agactggacc agagagcgcc
      481 actttgaaat tcctgatgaa gaacgctgtt tgaagttcct ctcagaggtc ctcgaagctc
      541 aggaagctca gtcacagctt cttgttccag aacaaaaaga ctcatctagc tggtaccaga
      601 aattagacac tatggataaa cctgcttatt cagggctgct tggatttgag gataattttt
      661 catctctgga tttagataag aaaatgaata cacaaaatcc ccgatcaggg agtcatcggg
      721 aaccaccccc tccaccttct tcatcgacta gaatgctttc gcgtgaaaag gaagcttcaa
      781 acaaagaaca gcccaaagtg accaatacca tgcggaagct atttgtcccg aacacccaaa
      841 ccgggcagcg agagggtctc attaaacata tcctcacaaa gcgagagaaa gaatatgtca
      901 acatccagtc tttcaggttt tttgttggaa cttggaatgt gaacggccag tctccagaca
      961 gcagcttaga accttggctc gactgtgatc caaatcctcc tgatatttac tgcattggat
     1021 tccaagagct ggacttgagc accgaagcct ttttctactt cgagtctgtg aaagagcaag
     1081 agtggtcctt ggctgtggaa agggggctgc cttcgaaggc caagtataga aaagttcaac
     1141 tggtccgcct tgtggggatg atgcttctta tatttgccag aaaagatcag tgtcaataca
     1201 tccgagatgt tgctacagaa acaactggaa ctggaatcat ggggaaaatg ggaaacaaag
     1261 gtggggtagc tgtaagattt gtattccaca acaccacttt ctgcattgtc aattcgcacc
     1321 tggccgccca cgtggaagag ttcgaacgaa ggaatcagga ttataaagac atctgtgcaa
     1381 gaatgacttt ttcagtcccc aatcagactg tcccgcaagt gaacatcatg aagcatgatg
     1441 ttgtcatttg gctgggagac ttgaactaca gactttgcat gcctgatgcc agtgaggtga
     1501 aaagtcttat taataaaaat gagcttcata agctgttgaa atttgaccag ttaaacattc
     1561 agcgcacaca gaaaaaagct tttgcggatt tcaatgaagg ggaaattaat ttcgttccca
     1621 cgtacaaata tgattcgaaa actgacagat gggattccag tgggaaatgc cgagttcccg
     1681 cctggtgtga ccgaattctt tggagaggaa taaatgttaa tcaacttcat taccggagtc
     1741 acatggaact caaaactagt gaccacaaac ctgttagcgc cctgttccat attggggtga
     1801 aggttgtgga tgagcggagg tatcggaagg tctttgaaga tatcgtccgc attatggaca
     1861 gaatggaaaa cgacttcctt ccttcattag aacttagcag gagagagttt ttttttgaga
     1921 atgtgaagtt tcggcagctg caaaaggaga agttccagat cagcaacaat ggacaggttc
     1981 cctgccattt ttctttcatc cctaagctta atgacagcca atactgcaag ccatggcttc
     2041 gagctgaacc ttttgagggc tacttggagc caaacgagac cttagacatc tcccttgatg
     2101 tatacgtcag caaagactct gtaaccatcc tgaactccgg tgaagataag attgaagata
     2161 ttcttgtcct ccatttggat cgaggcaaag attacttctt gaccatcggt gggaattacc
     2221 tcccaagttg ctttggaacc tcattggagg ctttgtgccg aatgaaaaga ccaattcgag
     2281 aagttcctgt caccaaactc atagacctgg aagaagacag ctacctagaa aaggagaaat
     2341 cccttctgca gatggtaccc ttggatgaag gtaccagtga gcgacccctt caagtcccca
     2401 aagagatctg gcttctagta gatcacttgt tcaaatatgc atgtcaccag gaggacttgt
     2461 tccaaacccc tggaatgcag gaggagttac agcagatcat tgattgcctg gataccagca
     2521 ttcctgagac aattcctggc aataaccatt ctgtggctga agcactgctc attttcctgg
     2581 aagctctgcc agagccagtc atctgttatg agctgtatca gcgatgtctt gactctgctc
     2641 atgatcctcg gatctgcaaa caggtcattt cccagcttcc aaggtgccat agaaatgttt
     2701 tccgctactt gatggcattc cttcgtgaac tcttaaaatt ctctgactac aacaatatca
     2761 acaccaacat gattgctacc ctgttcagta gccttctcct aagacctcca ccaaacctca
     2821 tgacaagaca gactccaaat gaccgccagc atgccatcca gttcctcttg gtcttcctgc
     2881 ttgggaacga ggaagactaa gtcttttcct atccgagatt ctagaggagg aagaccttgg
     2941 gctccgacta cttcaaaatg atctgaaaag ttatcacaca aaaagggtct actgtaggat
     3001 cttacattct gttagtagta caaagggaag agttttccta atccttcctt accatatcct
     3061 acacagcaaa atccttttag acatatattg ccaagccaaa gttaccatat ttcggtgttt
     3121 ttgtgtttac tctttgtaaa gcaaagaggt ctgtatttac acacctttac ctaggggtat
     3181 gttttctgcc ctgcttccca gtcctcatga ttatctttaa taccctaggc ctggattgag
     3241 aggccttcct gttctaagcc tacaagtact acttgctata gctcagactt gtctacagtt
     3301 ctttgtatga tgcactttgg acccaccctc tcctcatgtc actactttgc acacttcctc
     3361 catgctctca ctttgaagga agcctggatg aggctagtga ctctgtgggt gtcctgaaca
     3421 gtgaagttca ctgtctccat gtgattgtta caagcgtttg tgcagttcta ctacaatgat
     3481 atctgtatgt cactgtaatg ttggccttcg tggggaacca cacttggtgg agcccgattc
     3541 ccttgtctca gaccatggtt agttacataa ttttatggac tatagagatg gcgtcccact
     3601 gatgtgagaa acatcacaac agcgaggaaa gcactgtgag tatatcagaa tgaaaacatc
     3661 cctgcttccc agtccccgtg cccggctact atccacactt gacatgcgga gcaatcctgc
     3721 atgttggtcc ccatctcccc cactagaaac ccacttccag agtcatgttt gcatcacagt
     3781 caaaagagaa gtctgtgcac ctcaagtgag gtcccaggag ctttcctcgc cctccaaacc
     3841 aagcattgag ggtaaccctc agaacccatt ctcctatctc ctaaagtgtc ggggaaagtt
     3901 actggcctct ctcaacaggg ctcactctga gctccacatc cgcctccttc aagcaaagac
     3961 ttaaaaagac tgcccttgac tccttgacac tatatcaagt gctgtgtaag agagactggt
     4021 ccgtgggacc agccacacac attacctctt ccacttgaaa tgactctaag gttttcattt
     4081 tattcaagct ttgtgggaca gacaaacttt ttaaaaatta ctttgttgac tgacaaacca
     4141 gctgccagct tctggctgca aaactgcctg gtgaaattga cttgcttggt ttcattcacc
     4201 aaaccaaccc aagtcgtgtc attcttgcct attaacatct gatgtaaggc gctcatatag
     4261 gctgtgtgta caatcttggg cactgattcc atcagtagta tcttgtacca tccaaggaga
     4321 gggccaggaa aacatccacc atcaaatggt tttccagctc cctcatctct tcaaaattga
     4381 gttcttggga gaacaaaagg tatgtatcct gcagtagtta agcccttaaa taattgggag
     4441 ttgggaaatc ggaatcaaag tattggtgcc agctcactga agatctgatt gggtcaacag
     4501 ttgattagtg gaagacggag agcagaagaa ttttgtcata tctattaggc cagaaagtaa
     4561 tcactgaaga agcagatggt aggagctgga gcaaggtggt ccacagggga atgcctctcc
     4621 tgtgcccatt ttataatacc tcgccaagct tgggtcttta gatgagcaag attatggtta
     4681 gtgggggctc tgtggagcat gcacgtagtg cccttccttc atcaggccaa agcaccaagt
     4741 tgcttcactg cctcggcctt ttgtccagct cagcctggga tgtctatagg gttgagggtt
     4801 ttagacaatc tctaggaaag ggatacaaaa cagatccgat ggaagaaacc tacttcccta
     4861 tcctgcctat cctgcccctc aacctcttca ttcctaattc ctccaaggta ctatttcata
     4921 gttgctctga attaaggatt tcaggtttaa ctggtagtga aagactgcac ctagcatctt
     4981 cgggaagaaa tgattccagt ctattggctg atactacatt agtttccctt tctgattctt
     5041 aatctgtagt tctttgttat atttcacaaa aaaaaaaaat gtctcggtca ctacgcaaag
     5101 ctgctagtgg ggttctgtat tttgtgtcat cttttttatt ataatttatt gcaattttat
     5161 gaataaatat atgttgtgtg aaaaaaaaaa aaaaaaaa
//
