OCRL Gene
protein-coding GIFtS: 64
GCID: GC0XP128673
|
|
oculocerebrorenal syndrome of Lowe
| |
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 |
Export aliases for OCRL gene to outside databasesPrevious 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-Golginetwork. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool ofphosphatidylinositol 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
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: Xq25OCRL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 andRAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating thephosphatase 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 Q9UJG5Q9UMA5Alternative 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 PhosphoSitePlus2View neXtProt modification sites for NX_Q01968
OCRL Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table
OCRL for ontologies About GeneDecksing
OCRL Antibody Products:
Assay Products 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:Graphical View of Domain Structure for InterPro Entry Q01968ProtoNet protein and cluster: Q01968 2 Blocks protein families: IPB000198 RhoGAP domain IPB000300 Inositol polyphosphate related phosphatase family
UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968Domain: The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASHdomain 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 domainmediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapterAPPL1, which is then displaced by FAM109A and FAM109B as endosomes matureSimilarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II familySimilarity: Contains 1 PH domainSimilarity: 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,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: OCRL_HUMAN, Q01968Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool ofphosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assemblyCatalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol4-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
OCRL for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for OCRL:
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Ocrl):
OCRL for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for OCRL: Ocrltm1Nbm Ocrltm2Nbm
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCRL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OCRL (see all 2)
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 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OCRL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCRL |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCRL |
|
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-pathway | contained gene-specific pathways |
|---|
| 1 | D-myo-inositol (1,3,4)-trisphosphate biosynthesis | | | 2 | Clathrin derived vesicle budding | | | 3 | Metabolism | | | 4 | Inositol phosphate metabolism | | | 5 | Synthesis of IP3 and IP4 in the cytosol | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for OCRL
5/6  BioSystems Pathways for OCRL (see all 6)
5/15 
Reactome Pathways for OCRL (see all 15)
3 
Kegg Pathways (Kegg details for OCRL):
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)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| RAB8A | P610062, 3, ENSP000003009354 | MINT-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 | | RAB6A | P203402, 3, ENSP000003114494 | MINT-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 | | RAB5A | P203392, 3, ENSP000002730474 | MINT-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 | | CLTC | Q006102, 3, ENSP000002691224 | MINT-2883302 MINT-2980965 MINT-2980997 MINT-7291885 I2D:
score=3 STRING: ENSP00000269122 | | RAB14 | P611062, 3, ENSP000003629464 | MINT-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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001701 | in utero embryonic development |
IEA | -- | | GO:0006629 | lipid metabolic process |
NAS | 1321346 | | GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006661 | phosphatidylinositol biosynthetic process |
TAS | -- | | GO:0007264 | small 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 Tocris compounds for OCRL
4 HMDB Compounds for OCRL About this table
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,
Sirion Biotech,
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: AK2261165 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000486673 ENST00000371113(uc004euq.3) ENST00000357121(uc004eur.3 uc010nrb.3)
ENST00000468314 ENST00000463271
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCRL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OCRL (see all 2)
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) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OCRL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCRL |
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
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, Q01968Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina andthe retinal pigment epithelium
SABiosciences Custom PCR Arrays for OCRL
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OCRL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OCRL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OCRL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCRL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCRL |
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 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) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G019006AT2G374406(see all 10) |
endonuclease/exonuclease/phosphatase domain-contai...endonuclease/exonuclease/phosphatase domain-contai...(see all 10) |
28(a)25(a)(see all 10) |
possible orthologpossible 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 orthologpossible 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OCRL |
|
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-linkedmultisystem 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. Ocularabnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia,behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impairedreabsorption 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 isthe 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 tothe '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 variousdisorders, except for differences in the severity of bone deformities and renal impairment. Characteristicabnormalities 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 renalfailure is common, as are nephrocalcinosis and kidney stones
20/26  diseases for OCRL (see all 26): About MalaCardsoculocerebrorenal 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 |
- 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)
- Dent disease with mutations in OCRL1. (PubMed id 15627218)1, 2, 9 Hoopes R.R. Jr.... Scheinman S.J. (2005)
- Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (PubMed id 9199559)1, 2, 9 Lin T.... Nussbaum R.L. (1997)
- OCRL1 mutations in patients with Dent disease phenotype in Japan. (PubMed id 17384968)1, 2, 9 Sekine T....Igarashi T. (2007)
- 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)
- 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)
- 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)
- 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)
- Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. (PubMed id 9048911)1, 2, 9 Nussbaum R.L.... Chinault A.C. (1997)
- 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
|
|
Genome Databases showing OCRL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing OCRL gene
(According to HUGE)
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| -- |
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
|
| Name | Description |
| PharmGKB entry for OCRL | Pharmacogenomics, SNPs, Pathways | | Lowe Syndrome mutation database | http://research.nhgri.nih.gov/lowe/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OCRL |
|
| | |
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
|
Products
for OCRL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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