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

    Gene ID: 4952, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:8108
    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
    mouse all
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    Genomic context

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    See OCRL in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (129540259..129592556)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (127859040..127911341)
    RS_2024_09 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 SNF2 related chromatin remodeling ATPase 1 Neighboring gene small nucleolar RNA SNORD112 Neighboring gene Sharpr-MPRA regulatory region 13828 Neighboring gene NANOG hESC enhancer GRCh37_chrX:128698883-128699384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128734568-128735068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128735069-128735569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128783429-128783930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128783931-128784430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29917 Neighboring gene Sharpr-MPRA regulatory region 14523 Neighboring gene apelin Neighboring gene uncharacterized LOC105373334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20978

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Schroer RJ, et al. Am J Med Genet A, 2012 Oct. PMID 22965764, Free PMC Article
    2. Lowe Syndrome. Adam MP, et al. , 1993. PMID 20301653
    3. Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. Lasne D, et al. Br J Haematol, 2010 Sep. PMID 20629659
    4. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hichri H, et al. Hum Mutat, 2011 Apr. PMID 21031565
    5. Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Draaken M, et al. Hum Genet, 2011 May. PMID 21225285

    See all (165) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical features and genetic analysis of 15 Chinese children with dent disease.
      Title: Clinical features and genetic analysis of 15 Chinese children with dent disease.
    2. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
      Title: Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
    3. OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
      Title: OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
    4. Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
      Title: Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
    5. Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.
      Title: Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.
    6. Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
      Title: Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
    7. Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
      Title: Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
    8. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
      Title: Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
    9. SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
      Title: SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
    10. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
      Title: Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
    Submit: New GeneRIF Correction See all GeneRIFs (83)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dent disease type 2
    MedGen: C1845167 OMIM: 300555 GeneReviews: Dent Disease
    		not available
    Lowe syndrome
    MedGen: C0028860 OMIM: 309000 GeneReviews: Lowe Syndrome
    		not available

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol phosphate phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-1,4,5-trisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol phosphate 4-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    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
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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)

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    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_000276.4 → NP_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
      A6NKI1, A8KAP2, B7ZLX2, O60800, Q01968, Q15684, Q15774, Q4VY09, Q4VY10, Q5JQF1, Q5JQF2, Q9UJG5, Q9UMA5
      UniProtKB/TrEMBL
      Q504W7
      Related
      ENSP00000360154.4, ENST00000371113.9
      Conserved Domains (3) summary
      cd09093
      Location:240 → 533
      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:668 → 896
      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:11 → 115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

    2. NM_001318784.2 → NP_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:241 → 534
      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:669 → 897
      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:15 → 116
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

    3. NM_001587.4 → NP_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/TrEMBL
      A0A2X0TVZ9, Q504W7
      Related
      ENSP00000349635.5, ENST00000357121.5
      Conserved Domains (3) summary
      cd09093
      Location:240 → 533
      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:668 → 888
      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:11 → 115
      PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      127859040..127911341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01968.3 GenPept UniProtKB/Swiss-Prot:Q01968

    Gene LinkOut

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