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

    Gene ID: 4952, updated on 8-Jul-2021

    Summary

    Official Symbol
    OCRLprovided by HGNC
    Official Full Name
    OCRL inositol polyphosphate-5-phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:8108
    See related
    Ensembl:ENSG00000122126 MIM:300535
    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; DENT2; NPHL2; OCRL1; Dent-2; 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]
    Expression
    Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See OCRL in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (129540259..129592556)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128674236..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 Sharpr-MPRA regulatory region 13828 Neighboring gene Sharpr-MPRA regulatory region 14523 Neighboring gene apelin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dent disease type 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 2021-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inositol phosphate dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in membrane organization TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi stack TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in Golgi-associated vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    inositol polyphosphate 5-phosphatase OCRL
    Names
    Lowe oculocerebrorenal syndrome protein
    inositol polyphosphate 5-phosphatase OCRL-1
    oculocerebrorenal syndrome of Lowe
    phosphatidylinositol 3,4,5-triphosphate 5-phosphatase
    phosphatidylinositol polyphosphate 5-phosphatase
    NP_000267.2
    NP_001305713.1
    NP_001578.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4985..57282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000276.4NP_000267.2  inositol polyphosphate 5-phosphatase OCRL 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)
      AL022162, AL138745, AL662877
      Consensus CDS
      CCDS35393.1
      UniProtKB/Swiss-Prot
      Q01968
      Related
      ENSP00000360154.4, ENST00000371113.9
      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 (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 5-phosphatase domain and ...
      cd13382
      Location:11115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
    2. NM_001318784.2NP_001305713.1  inositol polyphosphate 5-phosphatase OCRL 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 (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 5-phosphatase domain and ...
      cd13382
      Location:15116
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
    3. NM_001587.4NP_001578.2  inositol polyphosphate 5-phosphatase OCRL 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)
      AL022162, AL138745, AL662877
      Consensus CDS
      CCDS35394.1
      UniProtKB/Swiss-Prot
      Q01968
      Related
      ENSP00000349635.5, ENST00000357121.5
      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 (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 5-phosphatase domain and ...
      cd13382
      Location:11115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      129540259..129592556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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