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OCRL Gene

protein-coding   GIFtS: 67
GCID: GC0XP128673

Oculocerebrorenal Syndrome Of Lowe

  See OCRL-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dent disease 2, and oculocerebrorenal syndrome. 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 INPP5E.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011786.17  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for OCRL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968 (See protein sequence)
Recommended Name: Inositol polyphosphate 5-phosphatase OCRL-1  
Size: 901 amino acids; 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 GTPas
Secondary accessions: A6NKI1 A8KAP2 B7ZLX2 O60800 Q15684 Q15774 Q4VY09 Q4VY10 Q5JQF1 Q5JQF2
Q9UJG5 Q9UMA5

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

Explore proteomics data for OCRL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys127, Lys449, Lys461, Lys578
  • Modification sites at PhosphoSitePlus

  • See OCRL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000267.2  NP_001578.2  

    ENSEMBL proteins: 
     ENSP00000360154   ENSP00000349635  
    Reactome Protein details: Q01968

    OCRL Human Recombinant Protein Products:

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

    ProtoNet protein and cluster: Q01968

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



    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with OCRL           About GenesLikeMe


    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/body  homeostasis/metabolism  mortality/aging  normal  renal/urinary system 
     reproductive system  vision/eye 

    Find genes that share phenotypes with OCRL           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OCRL
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    miRNA
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    miRTarBase miRNAs that target OCRL:
    hsa-mir-320a (MIRT044664), hsa-mir-10a-5p (MIRT047730), hsa-mir-378a-3p (MIRT043931), hsa-mir-484 (MIRT042349)

    Block miRNA regulation of human, mouse, rat OCRL using miScript Target Protectors
    Selected qRT-PCR 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
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    Addgene plasmids for OCRL 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    plasma membrane5
    cytosol4
    golgi apparatus4
    cytoskeleton1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with OCRL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OCRL About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    superpathway of inositol phosphate compounds0.60
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    4Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP2, IP, and Ins in the cytosol0.00
    Synthesis of IP3 and IP4 in the cytosol0.59
    5PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the Golgi membrane0.00


    Find genes that share SuperPaths with OCRL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OCRL
        Phosphatases

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


    5 Reactome Pathways for OCRL
        Synthesis of IP2, IP, and Ins in the cytosol
    Golgi Associated Vesicle Biogenesis
    Rho GTPase cycle
    Synthesis of PIPs at the Golgi membrane
    Synthesis of IP3 and IP4 in the cytosol


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OCRL
    Interactions:

        GeneGlobe Interaction Network for OCRL

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

    Selected Interacting proteins for OCRL (Q019682, 3 ENSP000003601544) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with OCRL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    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)



    Find genes that share compounds with OCRL           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486673 ENST00000371113(uc004euq.3) ENST00000357121(uc004eur.3 uc010nrb.3)
    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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    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 

    Selected AceView cDNA sequences (see all 207):

    AA044666 AI082506 AI905389 BM667481 BM698550 BM741923 AA127357 AA725734 
    BQ433228 BM741228 NM_000276 AW873633 AA977667 AU131510 BC025253 BF970377 
    BE502686 F07337 AI905390 Z40412 AI682333 BC018003 AI580769 AA884344 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OCRL expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    OCRL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OCRL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.126357
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for OCRL gene from Selected species (see all 17)    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 74.55(n)
    79.26(a)
      422136  XM_004940575.1  XP_004940632.1 
    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
    48.12(n)1
    36.99(a)1
      2B163
    311571  NM_130606.31  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)
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    Paralogs for OCRL gene
    INPP5E2  INPPL12  INPP5B2  INPP5J2  SYNJ12  INPP5D2  INPP5K2  SYNJ22  
    1 SIMAP similar gene for OCRL using alignment to 3 protein entries:     OCRL_HUMAN (see all proteins):
    INPP5B

    Find genes that share paralogs with OCRL           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OCRL (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
    ----------
    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--------
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300535   
    OMIM disorders: 309000  300555  
    4 diseases for OCRL:    
    About MalaCards
    dent disease 2    oculocerebrorenal syndrome    dent's disease    collecting duct carcinoma

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

    Find genes that share disorders with OCRL           About GenesLikeMe

    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)
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    PubMed articles for OCRL gene, integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Dent disease with mutations in OCRL1. (PubMed id 15627218)1, 2, 9 Hoopes R.R. Jr.... Scheinman S.J. (Am. J. Hum. Genet. 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. (Am. J. Hum. Genet. 1997)
    4. OCRL1 mutations in patients with Dent disease phenotype in Japan. (PubMed id 17384968)1, 2, 9 Sekine T.... Igarashi T. (Pediatr. Nephrol. 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. (Am. J. Med. Genet. 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. (Mol. Genet. Metab. 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. (Mol. Genet. Metab. 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. (Clin. Genet. 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. (Hum. Genet. 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. (Hum. Mol. Genet. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4952 HGNC: 8108 AceView: OCRL Ensembl:ENSG00000122126 euGenes: HUgn4952
    ECgene: OCRL Kegg: 4952 H-InvDB: OCRL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OCRL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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