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

Tissue specificity

Low tissue specificity

Subcell location

Microtubules, Centriolar satellite, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X:q26.1 (129539849 - 129592561)

Ensembl ID

ENSG00000122126  (ver. 103.38)

Orthologs

Mouse Ocrl: ENSMUSG00000001173

UniProt

Q01968

neXtProt

NX_Q01968

Human splice variants
Mouse splice variants