Protein Name OCRL inositol polyphosphate-5-phosphatase
Organism Homo sapiens
Gene ID 4952
Gene Symbol

OCRL

UniProt Q01968 (OCRL_HUMAN), Q504W7 (Q504W7_HUMAN), A0A2X0TVZ9 (A0A2X0TVZ9_HUMAN)
Relationships Total Number of functionally related compound(s) : 52
Total Number of Articles : 69
Description

OCRL inositol polyphosphate-5-phosphatase

Gene 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]

synonyms
  • inositol polyphosphate 5-phosphatase OCRL
  • Lowe oculocerebrorenal syndrome protein
  • inositol polyphosphate 5-phosphatase OCRL-1
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Properties