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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
a) Lowe syndrome
b) Dent disease type 2
Note: uncertain whether Met-1, Met-18 or Met-20 is the initiator
Related
OCRL1 gene mutation
General
hydrolase
Properties
SIZE: entity length = 901 aa
MW = 104 kD
MOTIF: rho-GAP domain
NAME: rho-GAP domain
SITE: 721-901
Database Correlations
OMIM correlations
UniProt Q01968
PFAM correlations
Entrez Gene 4952
Kegg hsa:4952
ENZYME 3.1.3.36
References
- UniProt :accession Q01968
- Lowe syndrome mutation database
http://research.nhgri.nih.gov/lowe/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=OCRL