InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OCRL

Summary

InnateDB Protein

IDBP-85574.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OCRL

Protein Name

oculocerebrorenal syndrome of Lowe

Synonyms

INPP5F; LOCR; NPHL2; OCRL-1; OCRL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000360154

InnateDB Gene

IDBG-85566 (OCRL)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:22228094, ECO:0000269PubMed:22543976}.

Subcellular Localization

Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=Also found on macropinosomes.

Disease Associations

Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]: X- linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination. {ECO:0000269PubMed:10767176, ECO:0000269PubMed:10923037, ECO:0000269PubMed:19168822, ECO:0000269PubMed:20133602, ECO:0000269PubMed:21031565, ECO:0000269PubMed:21233288, ECO:0000269PubMed:9199559, ECO:0000269PubMed:9632163, ECO:0000269PubMed:9682219, ECO:0000269PubMed:9788721}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dent disease 2 (DD2) [MIM:300555]: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. {ECO:0000269PubMed:15627218, ECO:0000269PubMed:17384968, ECO:0000269PubMed:21031565}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269PubMed:22543976}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.

Experimentally validated
Total	34 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0005515	protein binding
GO:0030675	Rac GTPase activator activity
GO:0048365	Rac GTPase binding
GO:0052745	inositol phosphate phosphatase activity

Biological Process

GO:0001701	in utero embryonic development
GO:0006629	lipid metabolic process
GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0032314	regulation of Rac GTPase activity
GO:0032855	positive regulation of Rac GTPase activity
GO:0042384	cilium assembly
GO:0043647	inositol phosphate metabolic process
GO:0044281	small molecule metabolic process
GO:0046856	phosphatidylinositol dephosphorylation
GO:0051056	regulation of small GTPase mediated signal transduction

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005795	Golgi stack
GO:0005798	Golgi-associated vesicle
GO:0005802	trans-Golgi network
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005905	coated pit
GO:0030136	clathrin-coated vesicle
GO:0030670	phagocytic vesicle membrane
GO:0031901	early endosome membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000198 Rho GTPase-activating protein domain
IPR000300 Inositol polyphosphate-related phosphatase
IPR005135 Endonuclease/exonuclease/phosphatase
IPR008936 Rho GTPase activation protein

PFAM

PF00620
PF03372
PF14529

PRINTS

PIRSF

SMART

SM00324
SM00128

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q01968