Ocrl Gene Summary [Mouse]
Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within in utero embryonic development and phosphatidylinositol dephosphorylation. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm; membrane; and neuron projection. Is expressed in several structures, including genitourinary system; maxillary process; musculature; sensory organ; and spleen. Human ortholog(s) of this gene implicated in Dent disease 2 and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ocrl |
| Official Name | OCRL, inositol polyphosphate-5-phosphatase [Source:MGI Symbol;Acc:MGI:109589] |
| Ensembl ID | ENSMUSG00000001173 |
| Bio databases IDs | |
| Aliases | OCRL, inositol polyphosphate-5-phosphatase |
| Synonyms | 9530014D17RIK, BB143339, DENT2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL inositol polyphosphate-5-phosphatase, OCRL, inositol polyphosphate-5-phosphatase |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ocrl often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGAP domain
- ASH domain
- phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
- clathrin box motif
- inositol-polyphosphate 5-phosphatase
- enzyme binding
- GTPase activator
- phosphoinositide 5-phosphatase
- protein binding
- phosphoinositide phosphatase
- Pleckstrin homology-like domain
- RhoGAP
- GTPase-activator protein for Rho-like GTPases
- Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
- phosphatase
Pathways
Biological processes and signaling networks where the Ocrl gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- oculocerebrorenal syndrome
- congenital cataract
- dent disease type 2
- T acute lymphoblastic leukemia
- abdominal aortic aneurysm
- Dent disease
role in cell
- expression in
- accumulation in
- phosphorylation in
- remodeling
- cell death
- internalization
- cell abscission
- organization
- phagocytosis by
- signaling in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- microtubule cytoskeleton
- cilia
- perinuclear region
- Nucleus
- Plasma Membrane
- basal bodies
- endosomes
- centrosome
- Golgi Apparatus
- midbody
- cytosol
- Golgi buds
- Golgi stacks
- trans Golgi network
- photoreceptor outer segments
- early endosomes
- perinuclear vesicles
- Golgi vesicles
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ocrl gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- inositol phosphate metabolic process
- cilium morphogenesis
- signal transduction
- in utero embryonic development
- lipid metabolic process
- phosphatidylinositol-3-phosphate biosynthetic process
- phosphatidylinositol biosynthetic process
- phosphatidylinositol dephosphorylation
Cellular Component
Where in the cell the gene product is active
- Golgi stack
- Golgi-associated vesicle
- plasma membrane
- lysosome
- photoreceptor outer segment
- early endosome membrane
- nucleus
- trans-Golgi network
- early endosome
- cytoplasm
- coated pit
- membrane
- phagocytic vesicle membrane
- cytosol
- clathrin-coated vesicle
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
- protein binding
- phosphatidylinositol phosphate 4-phosphatase activity
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
- phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
- GTPase activator activity
- small GTPase binding
- inositol-1,4,5-trisphosphate 5-phosphatase activity
- inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity
- inositol-polyphosphate 5-phosphatase activity
- inositol phosphate phosphatase activity