NP_000267.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 104kDa Molecular Weight: 901
NCBI Official Full Name
inositol polyphosphate 5-phosphatase OCRL-1 isoform a
NCBI Official Synonym Full Names
oculocerebrorenal syndrome of Lowe
NCBI Official Synonym Symbols
LOCR; NPHL2; OCRL1; INPP5F; OCRL-1 [Similar Products]
NCBI Protein Information
inositol polyphosphate 5-phosphatase OCRL-1
UniProt Protein Name
Inositol polyphosphate 5-phosphatase OCRL-1
UniProt Synonym Protein Names
Lowe oculocerebrorenal syndrome protein
UniProt Synonym Gene Names
UniProt Entry Name
OCRL_HUMAN
NCBI Summary for OCRL
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 Comments for OCRL
OCRL: 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. Belongs to the inositol-1,4,5-trisphosphate 5- phosphatase type II family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - inositol phosphate; Phosphatase (non-protein); EC 3.1.3.36; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: Xq25
Cellular Component: clathrin-coated vesicle; coated pit; cytoplasm; cytosol; early endosome; early endosome membrane; Golgi stack; Golgi-associated vesicle; nucleus; phagocytic vesicle membrane; photoreceptor outer segment; plasma membrane; trans-Golgi network
Molecular Function: GTPase activator activity; phosphoinositide 5-phosphatase activity; protein binding; Rac GTPase binding
Biological Process: cilium biogenesis; in utero embryonic development; inositol phosphate metabolic process; lipid metabolic process; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; phospholipid metabolic process; positive regulation of GTPase activity; regulation of GTPase activity; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction
Disease: Dent Disease 2; Lowe Oculocerebrorenal Syndrome
Research Articles on OCRL
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Products associated with anti-OCRL antibody
Pathways associated with anti-OCRL antibody
Products by Pathway |
Pathway Diagram |
1D-myo-inositol Hexakisphosphate Biosynthesis II (mammalian) Pathway antibodies |
1D-myo-inositol Hexakisphosphate Biosynthesis II (mammalian) Pathway Diagram |
1D-myo-inositol Hexakisphosphate Biosynthesis II (mammalian) Pathway antibodies |
1D-myo-inositol Hexakisphosphate Biosynthesis II (mammalian) Pathway Diagram |
3-phosphoinositide Degradation Pathway antibodies |
3-phosphoinositide Degradation Pathway Diagram |
3-phosphoinositide Degradation Pathway antibodies |
3-phosphoinositide Degradation Pathway Diagram |
Clathrin Derived Vesicle Budding Pathway antibodies |
Clathrin Derived Vesicle Budding Pathway Diagram |
D-myo-inositol (1,3,4)-trisphosphate Biosynthesis Pathway antibodies |
D-myo-inositol (1,3,4)-trisphosphate Biosynthesis Pathway Diagram |
D-myo-inositol (1,3,4)-trisphosphate Biosynthesis Pathway antibodies |
D-myo-inositol (1,3,4)-trisphosphate Biosynthesis Pathway Diagram |
D-myo-inositol (1,4,5)-trisphosphate Degradation Pathway antibodies |
D-myo-inositol (1,4,5)-trisphosphate Degradation Pathway Diagram |
D-myo-inositol (1,4,5)-trisphosphate Degradation Pathway antibodies |
D-myo-inositol (1,4,5)-trisphosphate Degradation Pathway Diagram |
Golgi Associated Vesicle Biogenesis Pathway antibodies |
Golgi Associated Vesicle Biogenesis Pathway Diagram |
Diseases associated with anti-OCRL antibody
Organs/Tissues associated with anti-OCRL antibody
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