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    Ocrl Oculocerebrorenal syndrome of Lowe [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 31157, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ocrlprovided by FlyBase
    Official Full Name
    Oculocerebrorenal syndrome of Loweprovided by FlyBase
    Primary source
    FLYBASE:FBgn0023508
    Locus tag
    Dmel_CG3573
    See related
    AllianceGenome:FB:FBgn0023508
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG3573; Dmel\CG3573; docrl; dOcrl; dOCRL; EG:86E4.5; ocrl; OCRL
    Summary
    Enables phosphatidylinositol bisphosphate phosphatase activity. Involved in endocytosis; endosome organization; and phosphatidylinositol dephosphorylation. Located in early endosome; late endosome; and recycling endosome. Is expressed in organism. Human ortholog(s) of this gene implicated in Dent disease 2 and oculocerebrorenal syndrome. Orthologous to several human genes including INPP5B (inositol polyphosphate-5-phosphatase B). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Ocrl in Genome Data Viewer
    Location:
    2B16-2B16; 1-0.2 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (1922981..1927524)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (1817014..1821557)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene Myb-interacting protein 130 Neighboring gene Rabconnectin-3B Neighboring gene eukaryotic translation initiation factor 2B subunit epsilon Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Tissue-specific tagging of endogenous loci in Drosophila melanogaster. Koles K, et al. Biol Open, 2015 Dec 23. PMID 26700726, Free PMC Article
    2. The role of phosphatases in inositol signaling reactions. Majerus PW, et al. J Biol Chem, 1999 Apr 16. PMID 10196133
    3. Cellular Uptake of A Taurine-Modified, Ester Bond-Decorated D-Peptide Derivative via Dynamin-Based Endocytosis and Macropinocytosis. Zhou J, et al. Mol Ther, 2018 Feb 7. PMID 29396265, Free PMC Article
    4. Mechanical competition alters the cellular interpretation of an endogenous genetic program. Bhide S, et al. J Cell Biol, 2021 Nov 1. PMID 34449835, Free PMC Article
    5. IPIP27 Coordinates PtdIns(4,5)P(2) Homeostasis for Successful Cytokinesis. Carim SC, et al. Curr Biol, 2019 Mar 4. PMID 30799246, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    NOT enables GTPase activator activity IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    enables inositol phosphate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol bisphosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    oculocerebrorenal syndrome of lowe
    Names
    CG3573-PA
    CG3573-PB
    Ocrl-PA
    Ocrl-PB
    inositol 5-phosphatase
    inositol polyphosphate 5-phosphatase
    oculocerebrorenal syndrome of lowe ortholog
    NP_001259153.1
    NP_569962.2

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_004354.4 Reference assembly

      Range
      1922981..1927524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_130606.3 → NP_569962.2  oculocerebrorenal syndrome of lowe, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_569962.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      O46094
      Related
      FBpp0070304
      Conserved Domains (3) summary
      cd09093
      Location:185 → 478
      INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
      cd04380
      Location:614 → 823
      RhoGAP_OCRL1; RhoGAP_OCRL1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate ...
      cl17171
      Location:23 → 163
      PH-like; Pleckstrin homology-like domain

    2. NM_001272224.1 → NP_001259153.1  oculocerebrorenal syndrome of lowe, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001259153.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      O46094
      Conserved Domains (3) summary
      cd09093
      Location:185 → 478
      INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
      cd04380
      Location:614 → 823
      RhoGAP_OCRL1; RhoGAP_OCRL1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate ...
      cl17171
      Location:23 → 163
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O46094 O46094
    Q95R90 Q95R90

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