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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OCRL Gene

protein-coding   GIFtS: 68
GCID: GC0XP128673

Oculocerebrorenal Syndrome Of Lowe

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Oculocerebrorenal Syndrome Of Lowe1 2     NPHL22 5
OCRL12 3 5     OCRL-12
INPP5F2 3     Inositol Polyphosphate 5-Phosphatase OCRL-12
Lowe Oculocerebrorenal Syndrome Protein2 3     Phosphatidylinositol Polyphosphate 5-Phosphatase2
LOCR2 5     EC 3.1.3.363

External Ids:    HGNC: 81081   Entrez Gene: 49522   Ensembl: ENSG000001221267   OMIM: 3005355   UniProtKB: Q019683   

Export aliases for OCRL gene to outside databases

Previous GC identifers: GC0XP123319 GC0XP125520 GC0XP126619 GC0XP127379 GC0XP128399 GC0XP128501 GC0XP118081


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OCRL Gene:
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi
network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. (provided by
RefSeq, Jul 2008)

GeneCards Summary for OCRL Gene: 
OCRL (oculocerebrorenal syndrome of Lowe) is a protein-coding gene. Diseases associated with OCRL include oculocerebrorenal syndrome, and dent disease 2, and among its related super-pathways are D-myo-inositol (1,3,4)-trisphosphate biosynthesis and Phosphatidylinositol signaling system. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and Rac GTPase binding. An important paralog of this gene is INPP5B.

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts
inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol
1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of
phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly

Gene Wiki entry for OCRL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OCRL gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOCRL promoter sequence
   Search SABiosciences Chromatin IP Primers for OCRL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OCRL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

OCRL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCRL gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP128673:  view genomic region     (about GC identifiers)

Start:
128,673,826 bp from pter      End:
128,726,538 bp from pter
Size:
52,713 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968 (See protein sequence)
Recommended Name: Inositol polyphosphate 5-phosphatase OCRL-1  
Size: 901 amino acids; 104205 Da
Subunit: Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually
exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A,
RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and
stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia
Subcellular location: Cytoplasmic vesicle, phagosome membrane (By similarity). Early endosome membrane. Membrane,
clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle (By similarity).
Endosome (By similarity). Golgi apparatus, trans-Golgi network (By similarity). Note=Also found on macropinosomes
Caution: It is uncertain whether Met-1, Met-18 or Met-20 is the initiator
Sequence caution: Sequence=AAA59964.2; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for OCRL:
2KIE (3D)        2QV2 (3D)        3QBT (3D)        3QIS (3D)    
Secondary accessions: A6NKI1 A8KAP2 B7ZLX2 O60800 Q15684 Q15774 Q4VY09 Q4VY10 Q5JQF1 Q5JQF2
Q9UJG5 Q9UMA5
Alternative splicing: 2 isoforms:  Q01968-1   Q01968-2   

Explore the universe of human proteins at neXtProt for OCRL: NX_Q01968

Explore proteomics data for OCRL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01968

  • OCRL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OCRL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000267.2  NP_001578.2  

    ENSEMBL proteins: 
     ENSP00000360154   ENSP00000349635  
    Reactome Protein details: Q01968
    Human Recombinant Protein Products for OCRL: 
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    Novus Biologicals OCRL Proteins
    Novus Biologicals OCRL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OCRL 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA12915445
    GO:0005737cytoplasm IDA12915445
    GO:0005769early endosome IDA--

    OCRL for ontologies           About GeneDecksing



    OCRL Antibody Products: 
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    Cloud-Clone Corp. ELISAs for OCRL 
    Cloud-Clone Corp. CLIAs for OCRL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: OCRL 
    Inositol polyphosphate phosphatases

    4 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR000300 IPPc
     IPR005135 Endo/exonuclease/phosphatase
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q01968

    ProtoNet protein and cluster: Q01968

    2 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB000300 Inositol polyphosphate related phosphatase family


    UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
    Domain: The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH
    domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically
    inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described.
    The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the
    endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature
    Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    OCRL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OCRL_HUMAN, Q01968
    Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts
    inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol
    1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of
    phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol
    4-phosphate + phosphate

         Enzyme Number (IUBMB): EC 3.1.3.361

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA--
    GO:0005515protein binding IPI12915445
    GO:0030675Rac GTPase activator activity IDA12915445
    GO:0048365Rac GTPase binding IPI12915445
    GO:0052745inositol phosphate phosphatase activity NAS1321346
         
    OCRL for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for OCRL:
     Decreased focal adhesion (FA)   Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ocrl):
     growth/size  homeostasis/metabolism  mortality/aging  normal  renal/urinary system 
     reproductive system  vision/eye 

    OCRL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for OCRL: Ocrltm1Nbm Ocrltm2Nbm

       inGenious Targeting Laboratory - Custom generated mouse model solutions for OCRL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OCRL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OCRL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OCRL 

    miRNA
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    miRTarBase miRNAs that target OCRL:
    hsa-mir-1 (MIRT002802)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCRL
    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate OCRL (see all 66):
    hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-219-5p hsa-miR-93 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidOCRL 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): OCRL (NM_000276)
    Sino Biological Human cDNA Clone for OCRL
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                         Customized lentivirus expression plasmids for stable overexpression of OCRL 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCRL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OCRL About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    D-myo-inositol (1,4,5)-trisphosphate degradation0.65
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    Synthesis of IP2, IP, and Ins in the cytosol0.50
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    3-phosphoinositide degradation0.33
    2Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    5Synthesis of IP3 and IP4 in the cytosol
    Inositol phosphate metabolism0.57
    Synthesis of IP3 and IP4 in the cytosol0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OCRL
        Phosphatases

    5/6 BioSystems Pathways for OCRL (see all 6)
        D-myo-inositol (1,4,5)-trisphosphate degradation
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    3-phosphoinositide degradation


    5/15        Reactome Pathways for OCRL (see all 15)
        Signaling by Rho GTPases
    Synthesis of IP2, IP, and Ins in the cytosol
    Membrane Trafficking
    Clathrin derived vesicle budding
    Metabolism


    3         Kegg Pathways  (Kegg details for OCRL):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    OCRL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OCRL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/70 Interacting proteins for OCRL (Q019682, 3 ENSP000003601544) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB8AP610062, 3, ENSP000003009354MINT-2882797 MINT-8184851 MINT-8184763 MINT-8184836 MINT-8185021 MINT-8184863 MINT-8184983 MINT-2882984 MINT-8184736 MINT-8184949 MINT-8184748 MINT-2883154 I2D: score=2 STRING: ENSP00000300935
    RAB6AP203402, 3, ENSP000003114494MINT-2883128 MINT-2980844 MINT-2980884 MINT-8184937 MINT-2980764 MINT-2980804 MINT-2883260 MINT-8184925 MINT-8184725 MINT-2980924 MINT-2882900 MINT-2882920 I2D: score=2 STRING: ENSP00000311449
    RAB5AP203392, 3, ENSP000002730474MINT-2882933 MINT-2981030 MINT-8184901 MINT-2882874 MINT-8184712 MINT-2981062 MINT-2981094 MINT-2883194 MINT-2883167 MINT-2883115 MINT-8184913 I2D: score=2 STRING: ENSP00000273047
    CLTCQ006102, 3, ENSP000002691224MINT-2883302 MINT-2980965 MINT-2980997 MINT-7291885 I2D: score=3 STRING: ENSP00000269122
    RAB14P611062, 3, ENSP000003629464MINT-2882815 MINT-2882965 MINT-2883141 I2D: score=2 STRING: ENSP00000362946
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006629lipid metabolic process NAS1321346
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007165signal transduction ----

    OCRL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    OCRL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OCRL

    4 HMDB Compounds for OCRL    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for OCRL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 69.9 9 9838104 (2), 9367831 (1), 8947484 (1), 8662625 (1) (see all 7)
    inositol 1,3,4,5-tetrakisphosphate 68.8 1 7761412 (1)
    phosphatidylinositol 57.8 10 9838104 (1), 14871328 (1), 12428211 (1), 9682219 (1) (see all 9)
    pip2 46.6 1 12915445 (1)
    chloride 31.5 2 18184518 (1), 19546591 (1)
    inositol 1,4,5 trisphosphate 18 3 9838104 (1), 7761412 (1)
    creatinine 4.99 1 17162149 (1)
    lipid 2.63 4 7761412 (2), 9838104 (1), 19940034 (1)

    Search CenterWatch for drugs/clinical trials and news about OCRL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OCRL gene (2 alternative transcripts): 
    NM_000276.3  NM_001587.3  

    Unigene Cluster for OCRL:

    Oculocerebrorenal syndrome of Lowe
    Hs.126357  [show with all ESTs]
    Unigene Representative Sequence: AK226116
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486673 ENST00000371113(uc004euq.3) ENST00000357121(uc004eur.3 uc010nrb.3)
    ENST00000468314 ENST00000463271
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    hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-219-5p hsa-miR-93 hsa-miR-130b
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCRL
    Sirion Biotech Customized lentivirus for stable overexpression of OCRL 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCRL

    Additional mRNA sequence: 

    AK226116.1 AK293107.1 BC018003.1 BC025253.2 BC094726.1 BC130612.1 BC144106.1 S62085.1 
    U57627.2 

    7 DOTS entries:

    DT.100812894  DT.318168  DT.65286184  DT.121317528  DT.95365302  DT.100719060  DT.91654765 

    24/207 AceView cDNA sequences (see all 207):

    AA868822 BF970377 AW873633 BM741228 AA977667 BM698550 AA044666 AI905390 
    NM_000276 BG654680 AA904845 AA707458 AU130651 AA127357 BQ013998 AA743649 
    BQ433228 AA442873 BM667481 AA996072 AA884344 AI905389 AA044801 CA446506 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for OCRL    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                      -                                                           -                                                         
    SP2:                                      -                                                           -                                         -               
    SP3:        -     -     -                                                                                                                                       
    SP4:              -                       -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26a · 26b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for OCRL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OCRL expression in normal human tissues (normalized intensities)      OCRL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGACATT
    OCRL Expression
    About this image


    OCRL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             clps   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See OCRL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OCRL

    SOURCE GeneReport for Unigene cluster: Hs.126357

    UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
    Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina
    and the retinal pigment epithelium

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OCRL gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ocrl1 , 5 oculocerebrorenal syndrome of Lowe1, 5 88.78(n)1
    91.56(a)1
      X (25.43 cM)5
    3206341  NM_177215.31  NP_796189.21 
     479123875 
    chicken
    (Gallus gallus)
    Aves OCRL1 oculocerebrorenal syndrome of Lowe 75.08(n)
    80.44(a)
      422136  XM_420138.3  XP_420138.3 
    lizard
    (Anolis carolinensis)
    Reptilia OCRL6
    oculocerebrorenal syndrome of Lowe
    79(a)
    1 ↔ 1
    GL343451.1(583844-615148)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.53762 Xenopus laevis transcribed sequence with moderate similarity more 71.41(n)    BG552985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.151362 Transcribed sequence with weak similarity to protein more 72.86(n)    CK017590.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:86E4.53
    Ocrl1
    dephosphorylation
    inositol-1,4,5-trisphosphate
    more3
    Oculocerebrorenal syndrome of Lowe 1 ortholog1
    33(a)3
    47.49(n)1
    35.93(a)1
      2B163
    311571  NM_130606.21  NP_569962.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C16C2.33 inositol-1,4,5-triphosphate
    5-phosphatase
    30(a)   I(9723602-9725167)   --


    ENSEMBL Gene Tree for OCRL (if available)
    TreeFam Gene Tree for OCRL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OCRL gene
    INPP5B2  INPP5J2  SYNJ12  INPP5D2  INPP5K2  INPP5E2  INPPL12  SYNJ22  
    1 SIMAP similar gene for OCRL using alignment to 3 protein entries:     OCRL_HUMAN (see all proteins):
    INPP5B

    OCRL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/791 SNPs in OCRL are shown (see all 791)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0647924
    Dent disease 2 (DD2)4--see VAR_0647922 P L mis40--------
    VAR_0101694
    Lowe oculocerebrorenal syndrome (OCRL)4--see VAR_0101692 R P mis40--------
    VAR_0647874
    Lowe oculocerebrorenal syndrome (OCRL)4--see VAR_0647872 P L mis40--------
    VAR_0101794
    Lowe oculocerebrorenal syndrome (OCRL)4--see VAR_0101792 R G mis40--------
    VAR_0647934
    Lowe oculocerebrorenal syndrome (OCRL)4--see VAR_0647932 P L mis40--------
    VAR_0101874
    Lowe oculocerebrorenal syndrome (OCRL)4--see VAR_0101872 I S mis40--------
    rs1378532631,2,4
    CLowe oculocerebrorenal syndrome (OCRL)4 pathogenic1128651902(+) TGGTGC/TGCCTT 4 R C mis10--------
    rs1378532621,2,4
    CDent disease 2 (DD2)4 pathogenic1128656839(+) TAAGTA/GTGACT 4 Y C mis10--------
    rs1378532601,2,4
    CLowe oculocerebrorenal syndrome (OCRL)4 pathogenic1128658802(+) TGACCA/GAATTC 4 Q R mis10--------
    rs1378532611,2,4
    CLowe oculocerebrorenal syndrome (OCRL)4 pathogenic1128658875(+) GACCAC/GAAGCC 4 H Q mis10--------

    HapMap Linkage Disequilibrium report for OCRL (128673826 - 128726538 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OCRL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7086CNV Insertion18451855
    nsv508800CNV Insertion20534489
    dgv2474e1CNV Complex17122850
    dgv2475e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): OCRL

    Locus Specific Mutation Databases (LSDB): OCRL
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300535   
    OMIM disorders: 309000  300555  
    UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
  • Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]: X-linked multisystem disorder affecting eyes,
    nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin
    D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include
    cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior
    abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired
    reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint
    hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and
    hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp
    examination. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Dent disease 2 (DD2) [MIM:300555]: A renal disease belonging to the 'Dent disease complex', a group of
    disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal
    insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for
    differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include
    low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and
    phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common,
    as are nephrocalcinosis and kidney stones. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/24 diseases for OCRL (see all 24):    About MalaCards
    oculocerebrorenal syndrome    dent disease 2    dent's disease    interstitial nephritis
    fanconi syndrome    collecting duct carcinoma    cataract-glaucoma    glanders
    renal tubular acidosis    aminoaciduria    nephrocalcinosis    hypophosphatemia
    nephrolithiasis    rickets    protein s deficiency    cataract
    hypotonia    intellectual disability    nephritis    glaucoma

    4 diseases from the University of Copenhagen DISEASES database for OCRL:
    Oculocerebrorenal syndrome     Fanconi syndrome     Intellectual disability     Nephrocalcinosis

    OCRL for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for OCRL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lowe syndrome 98.9 49 18500547 (3), 19582483 (3), 16420990 (2), 16381338 (2) (see all 30)
    dent disease 92.4 28 19582483 (5), 19390221 (5), 17162149 (4), 15627218 (2) (see all 10)
    congenital cataract 89.8 2 15627218 (1), 9593760 (1)
    mental retardation 72.1 3 15627218 (1), 12915445 (1), 9632163 (1)
    eye abnormalities 69.5 1 19390221 (1)
    acidosis renal tubular 55.5 1 15627218 (1)
    cataract 51.8 2 15627218 (1), 17162149 (1)
    acidosis 31.6 1 19390221 (1)

    GeneTests: OCRL
    GeneReviews: OCRL

    Export disorders for OCRL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OCRL gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with OCRL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5- bisphosphate 5-phosphatase. (PubMed id 7761412)1, 2, 9 Zhang X.... Majerus P.W. (1995)
    2. Dent disease with mutations in OCRL1. (PubMed id 15627218)1, 2, 9 Hoopes R.R. Jr.... Scheinman S.J. (2005)
    3. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (PubMed id 9199559)1, 2, 9 Lin T.... Nussbaum R.L. (1997)
    4. OCRL1 mutations in patients with Dent disease phenotype in Japan. (PubMed id 17384968)1, 2, 9 Sekine T....Igarashi T. (2007)
    5. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (PubMed id 9632163)1, 2, 9 Kawano T.... Matsuda I. (1998)
    6. Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (PubMed id 10767176)1, 2, 9 Roeschinger W.... Kammerer S. (2000)
    7. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. (PubMed id 9682219)1, 2, 9 Lin T.... Nussbaum R.L. (1998)
    8. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. (PubMed id 9788721)1, 2, 9 Kubota T....Fukushima Y. (1998)
    9. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. (PubMed id 9048911)1, 2, 9 Nussbaum R.L.... Chinault A.C. (1997)
    10. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (PubMed id 8504307)1, 2, 9 Leahey A.-M.... Nussbaum R.L. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4952 HGNC: 8108 AceView: OCRL Ensembl:ENSG00000122126 euGenes: HUgn4952
    ECgene: OCRL Kegg: 4952 H-InvDB: OCRL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OCRL Pharmacogenomics, SNPs, Pathways
    Lowe Syndrome mutation databasehttp://research.nhgri.nih.gov/lowe/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OCRL

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OCRL gene:
    Search GeneIP for patents involving OCRL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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