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

Gene ID: 31157, updated on 2-Nov-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, Nov 2024]
Orthologs
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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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