Tbio OCRL Inositol polyphosphate 5-phosphatase OCRL-1

Protein Summary

Description

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 (PubMed:25869668, PubMed:7761412, PubMed:9430698). 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 (PubMed:22228094, PubMed:22543976). This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Uniprot Accession IDs

• Q01968
• A6NKI1
• A8KAP2
• B7ZLX2
• O60800
• Q15684
• Q15774
• Q4VY09
• Q4VY10
• Q5JQF1
• Q5JQF2
• Q9UJG5
• Q9UMA5

Gene Name

• OCRL

Ensembl ID

• ENST00000357121
• ENSP00000349635
• ENSG00000122126
• ENST00000371113
• ENSP00000360154

Symbol

• INPP5F
• OCRL1
• LOCR
• NPHL2
• OCRL1
• INPP5F
• OCRL-1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.85
molecular function	0.84
cellular component	0.79
microRNA	0.71
tissue sample	0.7

Protein Classes

PANTHER Classes

Protein / Hydrolase / Phosphatase / Inositol Polyphosphate 5-phosphatase Ocrl-1

DTO Classes

Protein / Enzyme / Hydrolase / Phosphatase / Inositol Polyphosphate 5-phosphatase Ocrl-1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 207.08   (req: < 5)

Gene RIFs: 60   (req: <= 3)

Antibodies: 337   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 207.08   (req: >= 5)

Gene RIFs: 60   (req: > 3)

Antibodies: 337   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (295)

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1 – 10 of 295

• See Interactions on String-DB

PHETA1

Tbio

Novelty:  0.52415295

p_int:  0.999988829

p_ni:  0.000011171

Score:  0.995

Data Source:  BioPlex,STRINGDB

PHETA2

Tbio

Novelty:  2.16796164

p_int:  0.999966344

p_ni:  0.000033656

Score:  0.933

Data Source:  BioPlex,STRINGDB

INPP5B

Tbio

Family:  Enzyme

Novelty:  0.02981249

p_int:  0.998935319

p_ni:  6.8e-7

p_wrong:  0.001064001

Score:  0.971

Data Source:  BioPlex,STRINGDB

PLEKHJ1

Tdark

Novelty:  1.44399298

p_int:  0.994843243

p_ni:  0.005156708

p_wrong:  4.9e-8

Score:  0.874

Data Source:  BioPlex,STRINGDB

PAK2

Tchem

Family:  Kinase

Novelty:  0.0149123

p_int:  0.993284146

p_ni:  0.005605052

p_wrong:  0.001110803

Score:  0.427

Data Source:  BioPlex,STRINGDB

TPCN2

Tchem

Family:  IC

Novelty:  0.01351129

p_int:  0.962878661

p_ni:  0.037121339

Data Source:  BioPlex

AP2A1

Tbio

Novelty:  0.08554974

p_int:  0.961152231

p_ni:  0.038847769

Score:  0.965

Data Source:  BioPlex,STRINGDB

C16orf70

Tdark

Novelty:  2.12573065

p_int:  0.957538145

p_ni:  0.042461855

Data Source:  BioPlex

RAB6A

Tchem

Family:  Enzyme

Novelty:  0.00546034

p_int:  0.942028841

p_ni:  0.057971158

p_wrong:  1e-9

Score:  0.923

Data Source:  BioPlex,STRINGDB

PCBP3

Tbio

Novelty:  0.11681812

p_int:  0.898401662

p_ni:  0.101488639

p_wrong:  0.000109699

Data Source:  BioPlex

Nearest Tclin Targets (4)

Explore Nearest Tclin Targets

Upstream (2)

Downstream (2)

1 – 2 of 2

PIK3CA

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  3

1: Inositol phosphate metabolism

2: Metabolic pathways

3: Phosphatidylinositol signaling system

PIK3CD

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  3

1: Inositol phosphate metabolism

2: Metabolic pathways

3: Phosphatidylinositol signaling system

Pathways (27)

Reactome (17)

KEGG (3)

PathwayCommons (7)

Clathrin-mediated endocytosis (R-HSA-8856828)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Clathrin-mediated endocytosis	143 targets	R-HSA-8856828
Reactome	Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Reactome	Inositol phosphate metabolism	48 targets	R-HSA-1483249
Reactome	Membrane Trafficking	612 targets	R-HSA-199991
Reactome	Metabolism	2112 targets	R-HSA-1430728

Name	Explore in Pharos	Explore in Source
Clathrin-mediated endocytosis	143 targets	R-HSA-8856828
Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Inositol phosphate metabolism	48 targets	R-HSA-1483249
Membrane Trafficking	612 targets	R-HSA-199991
Metabolism	2112 targets	R-HSA-1430728

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (33)

Functions (8)

Components (14)

Processes (11)

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1 – 8 of 8

GO Term	Evidence	Assigned by
GTPase activator activity	Inferred from Direct Assay (IDA)	FlyBase
inositol phosphate phosphatase activity	Inferred from Direct Assay (IDA)	UniProtKB
Rac GTPase binding	Inferred from Physical Interaction (IPI)	FlyBase
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	Traceable Author Statement (TAS)	Reactome
inositol-1,4,5-trisphosphate 5-phosphatase activity	Traceable Author Statement (TAS)	Reactome
phosphatidylinositol phosphate 4-phosphatase activity	Traceable Author Statement (TAS)	Reactome
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	Traceable Author Statement (TAS)	Reactome

Disease Associations ()

No disease associations found

GWAS Traits (2)

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1 – 2 of 2

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
response to darapladib	EFO_0008395	1	1	0	4.1	3.4
Diarrhea	HP_0002014	1	1	0	4.1	3.4

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 2 of 2

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
response to darapladib	EFO_0008395	0	4.1	3.4
Diarrhea	HP_0002014	0	4.1	3.4

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Cataract
Cell projection
Ciliopathy
Cilium
Cilium biogenesis/degradation
Coated pit
Complete proteome
Cytoplasmic vesicle

GWAS Trait Find Similar Targets

No Header	No Header
Diarrhea
response to darapladib

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	OCRL, inositol polyphosphate-5-phosphatase	VGNC:10468	465851
Macaque	OCRL, inositol polyphosphate-5-phosphatase		702345
Mouse	OCRL, inositol polyphosphate-5-phosphatase	MGI:109589	320634
Rat	OCRL, inositol polyphosphate-5-phosphatase	RGD:1594526	317576
Dog	OCRL, inositol polyphosphate-5-phosphatase	VGNC:44095	492123

Species	Name	OMA	EggNOG	Inparanoid
Chimp	OCRL, inositol polyphosphate-5-phosphatase
Macaque	OCRL, inositol polyphosphate-5-phosphatase
Mouse	OCRL, inositol polyphosphate-5-phosphatase
Rat	OCRL, inositol polyphosphate-5-phosphatase
Dog	OCRL, inositol polyphosphate-5-phosphatase

Publication Statistics

PubMed Score 207.08

PubMed score by year

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PubTator Score 169.16

PubTator score by year

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Related Publications

Text Mined References (86)

GeneRif Annotations (60)

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PMID	Year	Title