OCRL (NM_000276) - OCRL inositol polyphosphate-5-phosphatase
Inositol Polyphosphate 5-Phosphatase Ocrl Isoform A
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Protein summary
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].
- Strand
- +
- Chromosome
- X
- Protein
- 901 residues
- All mutations
- 163
- PTM sites
- 20
- CDS
- 128,674,416 - 128,724,247
- Transcription
- 128,674,251 - 128,726,530
Usage summary
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Kinase, PTM site or protein
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