Lowe's oculocerebral syndrome protein; inositol polyphosphate 5-phosphatase OCRL-1 (OCRL, INPP5F, OCRL1)

Function

• converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate
• also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate & inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-triphosphate
• may function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O
            <-->
1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate

Structure

• homologous to inositol polyphosphate 5-phosphatase
• belongs to the inositol-1,4,5-trisphosphate 5-phosphatase type II family
• contains 1 Rho-GAP domain

Alternative splicing

named isoforms=2

Expression

• expressed in brain, skeletal muscle, heart, kidney, lung, placenta & fibroblasts

Pathology

• defects in OCRL are the cause of
  • Lowe syndrome
  • Dent disease type 2

Notes

uncertain whether Met-1, Met-18 or Met-20 is the initiator

More general terms

• hydrolase

Database

• UniProt: http://www.uniprot.org/uniprot/Q01968.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4952
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4952
• OMIM: https://mirror.omim.org/entry/300535
• OMIM: https://mirror.omim.org/entry/300555
• OMIM: https://mirror.omim.org/entry/309000