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

OCRL Gene

protein-coding   GIFtS: 64
GCID: GC0XP128673

oculocerebrorenal syndrome of Lowe
 Explore 26 diseases affiliated with
OCRL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for OCRL    

Aliases
for OCRL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Oculocerebrorenal Syndrome Of Lowe1 2     NPHL22 5
OCRL11 2 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


Summaries
for OCRL gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
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 plasmid: OCRL 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

Proteins
for OCRL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01968

    • OCRL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000360154   ENSP00000349635  
    Reactome Protein details: Q01968
    Human Recombinant Protein Products: 
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    Novus Biologicals OCRL Proteins
    Novus Biologicals OCRL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for OCRL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA--
    GO:0005634nucleus IDA12915445
    GO:0005737cytoplasm IDA12915445
    GO:0005769early endosome IDA--
    GO:0005795Golgi stack TAS1840503


    OCRL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for OCRL

    Protein Domains /
    Families
    for OCRL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    OCRL for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for OCRL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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

    OriGene 3'-UTR Clone (see all 2): OCRL
    Browse MicroRNA Expression Plasmids
    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 plasmid: OCRL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCRL (see all 7)
    OriGene shRNA RFP: OCRL
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCRL

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for OCRL

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCRL (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCRL 

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    Search LifeMap BioReagents cell lines for OCRL

    In Situ Assay
    Products:       
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    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 IPI--
    GO:0030675Rac GTPase activator activity IDA12915445
    GO:0048365Rac GTPase binding IPI12915445
    GO:0052745inositol phosphate phosphatase activity NAS1321346


    OCRL for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for OCRL: Ocrltm1Nbm Ocrltm2Nbm
         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


    Pathways & Interactions
    for OCRL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    		D-myo-inositol (1,3,4)-trisphosphate biosynthesis1.00
    		D-myo-inositol (1,4,5)-trisphosphate degradation0.40
    		1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    		3-phosphoinositide degradation0.33
    		superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    		Synthesis of IP2, IP, and Ins in the cytosol0.24
    2Clathrin derived vesicle budding
    		Clathrin derived vesicle budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		trans-Golgi Network Vesicle Budding1.00
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4Inositol phosphate metabolism
    		Inositol phosphate metabolism1.00
    		Phosphatidylinositol signaling system0.59
    		superpathway of inositol phosphate compounds0.59
    5Synthesis of IP3 and IP4 in the cytosol
    		Synthesis of IP3 and IP4 in the cytosol1.00
    		Inositol phosphate metabolism0.57

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OCRL
        Phosphatases

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

    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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:0007264small GTPase mediated signal transduction TAS--


    OCRL for ontologies           About GeneDecksing



    Drugs & Compounds
    for OCRL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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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 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 

    Transcripts
    for OCRL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: OCRL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCRL (see all 7)
    OriGene shRNA RFP: OCRL
    OriGene siRNA: OCRL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCRL
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): OCRL (NM_000276)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCRL 
    Primer
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    Additional cDNA 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):

    AI214412 BQ013998 AA868822 AA707458 AW873633 Z40412 F07337 CA941414 
    BE502686 AA904845 AI784510 AL045748 AA442873 CA941696 AA704671 AA188493 
    NM_001587 AA805220 AI264530 CA446506 AA044801 BC025253 BM667481 NM_000276 

    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

    Expression
    for OCRL gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTGACATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    for OCRL gene

    (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 eukaryotes.

    Orthologs for OCRL gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 GL343451.1(587195-612449)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.53762 Xenopus laevis transcribed sequence with moderate similarity to protein pirA41075 (H.sapiens) A41075 inositol-1,4,5-trisphosphate 5-phosphatase (EC 3.1.3.56) - human (fragment) less 71.41(n)    BG552985.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.151362 Transcribed sequence with weak similarity to protein spP32019 (H.sapiens) I5P2_HUMAN TYPE II INOSITOL-1,4,5-TRISPHOSPHATE 5-PHOSPHATASE PRECURSOR (5PTASE) less 72.86(n)    CK017590.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta EG:86E4.53
    Ocrl1    		 dephosphorylation
    inositol-1,4,5-trisphosphate 5-phosphatase less3
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G019006
    AT2G374406
    (see all 10)    		 endonuclease/exonuclease/phosphatase domain-contai...
    endonuclease/exonuclease/phosphatase domain-contai...
    (see all 10)    		 28(a)
    25(a)
    (see all 10)    		 possible ortholog
    possible ortholog
    (see all 10)    		 2(405918-409014)
    2(15718053-15722108)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 15)    		 endonuclease/exonuclease/phosphatase family domain...
    endonuclease/exonuclease/phosphatase family domain...
    (see all 15)    		 29(a)
    27(a)
    (see all 15)    		 possible ortholog
    possible ortholog
    (see all 15)    		 9(13687244-13689948)
    8(20447312-20449557)


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

    Paralogs
    for OCRL gene

    (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



    Genomic Variants
    for OCRL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/602 NCBI SNPs in OCRL are shown (see all 602)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378532631,2
    		Cpathogenic128696373(+) TGGTGC/TGCCTT 4 R C mis10--------
    rs1378532621,2
    		Cpathogenic128701310(+) TAAGTA/GTGACT 4 Y C mis10--------
    rs1378532601,2
    		Cpathogenic128703273(+) TGACCA/GAATTC 4 Q R mis10--------
    rs1378532611,2
    		Cpathogenic128703346(+) GACCAC/GAAGCC 4 H Q mis10--------
    rs1855808961,2
    		--128672252(+) CCTACG/TTGGCT 2 -- us2k10--------
    rs1440340731,2
    		--128672350(+) GAAGGC/TAAATG 2 -- us2k10--------
    rs1887948471,2
    		--128672358(+) ATGACA/CAATAA 2 -- us2k10--------
    rs1405172931,2
    		--128672464(+) GAATTA/GCAATT 2 -- us2k10--------
    rs1816010091,2
    		--128672989(+) AGCCAC/GTGTGC 2 -- us2k10--------
    rs1853724471,2
    		--128673083(+) ATTCCA/TTATTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for OCRL (128673826 - 128726538 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for OCRL
         1 CNV: 4172
    Human Gene Mutation Database (HGMD): OCRL

    Locus Specific Mutation Databases (LSDB): OCRL

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    Disorders / Diseases
    for OCRL gene

    (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
    OCRL for disorders           About GeneDecksing

    OMIM gene information: 300535   
    OMIM disorders: 309000  300555  
    UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
  • Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]. It is an 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
  • Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is 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

    20/26 diseases for OCRL (see all 26):    About MalaCards
    oculocerebrorenal syndrome    dent disease    collecting duct carcinoma    renal tubular acidosis
    cataract-glaucoma    dent disease 2    congenital cataracts    cataract
    interstitial nephritis    intellectual disability    aminoaciduria    glaucoma
    nephrocalcinosis    bleeding disorder    hypophosphatemia    glanders
    hypercalciuria    rickets    nephrolithiasis    fanconi syndrome

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

    8 Novoseek 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
    Lowe Syndrome


    Export disorders for OCRL gene to outside databases

    Publications
    for OCRL gene

    (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 105):
    (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)

    External Searches for OCRL gene

    (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)

    Genome Databases showing OCRL gene

    (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

    Other Databases showing OCRL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OCRL gene

    (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

    Intellectual Property
    for OCRL gene

    (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:
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