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]

Description

OCRL inositol polyphosphate-5-phosphatase

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

X:q26.1 (129539849 - 129592561)

Ensembl ID

ENSG00000122126  (ver. 99.38)

Orthologs

Mouse Ocrl: ENSMUSG00000001173

UniProt

Q01968

neXtProt

NX_Q01968

Human splice variants
Mouse splice variants