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    OCRL OCRL, inositol polyphosphate-5-phosphatase [ Homo sapiens (human) ]

    Gene ID: 4952, updated on 9-Jun-2016
    Official Symbol
    OCRLprovided by HGNC
    Official Full Name
    OCRL, inositol polyphosphate-5-phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:8108
    See related
    Ensembl:ENSG00000122126 HPRD:02395; MIM:300535; Vega:OTTHUMG00000022706
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LOCR; NPHL2; OCRL1; INPP5F; OCRL-1
    Summary
    This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Orthologs
    Location:
    Xq25
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (129532737..129592561)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128673826..128726533)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 513 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Neighboring gene apelin Neighboring gene uncharacterized LOC105373334

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dent disease 2
    MedGen: C1845167 OMIM: 300555 GeneReviews: Dent Disease
    Compare labs
    Lowe syndrome
    MedGen: C0028860 OMIM: 309000 GeneReviews: Lowe Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    Rac GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    inositol phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inositol phosphate phosphatase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    inositol-1,4,5-trisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi stack TAS
    Traceable Author Statement
    more info
    PubMed 
    Golgi-associated vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    inositol polyphosphate 5-phosphatase OCRL-1
    Names
    Lowe oculocerebrorenal syndrome protein
    oculocerebrorenal syndrome of Lowe
    phosphatidylinositol polyphosphate 5-phosphatase
    NP_000267.2
    NP_001305713.1
    NP_001578.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008638.1 RefSeqGene

      Range
      5001..57282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000276.3NP_000267.2  inositol polyphosphate 5-phosphatase OCRL-1 isoform a

      See identical proteins and their annotated locations for NP_000267.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) encodes isoform (a).
      Source sequence(s)
      U57627
      Consensus CDS
      CCDS35393.1
      UniProtKB/Swiss-Prot
      Q01968
      Related
      ENSP00000360154, OTTHUMP00000024304, ENST00000371113, OTTHUMT00000058917
      Conserved Domains (3) summary
      cd09093
      Location:240533
      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:668896
      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 ...
      cd13382
      Location:11115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
    2. NM_001318784.1NP_001305713.1  inositol polyphosphate 5-phosphatase OCRL-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) uses an alternate splice site in the 5' coding region compared to variant a. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AI829608, AK226116, AL022162, BC094726
      UniProtKB/TrEMBL
      Q504W7
      Conserved Domains (3) summary
      cd09093
      Location:241534
      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:669897
      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 ...
      cd13382
      Location:15116
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
    3. NM_001587.3NP_001578.2  inositol polyphosphate 5-phosphatase OCRL-1 isoform b

      See identical proteins and their annotated locations for NP_001578.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) that has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      U57627
      Consensus CDS
      CCDS35394.1
      UniProtKB/Swiss-Prot
      Q01968
      Related
      ENSP00000349635, OTTHUMP00000024305, ENST00000357121, OTTHUMT00000058918
      Conserved Domains (3) summary
      cd09093
      Location:240533
      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:668888
      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 ...
      cd13382
      Location:11115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      129532737..129592561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531344.2XP_011529646.1  

      See identical proteins and their annotated locations for XP_011529646.1

      Conserved Domains (3) summary
      cd09093
      Location:192485
      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:620848
      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:3367
      PH-like; Pleckstrin homology-like domain
    2. XM_005262422.2XP_005262479.1  

      Conserved Domains (2) summary
      cd09093
      Location:83376
      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:511739
      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 ...
    3. XM_011531345.2XP_011529647.1  

      See identical proteins and their annotated locations for XP_011529647.1

      Conserved Domains (3) summary
      cd09093
      Location:192485
      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:620848
      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:3367
      PH-like; Pleckstrin homology-like domain
    4. XM_017029554.1XP_016885043.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      128585619..128637903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)