Document Detail

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
MedLine Citation:
PMID:  9430698     Owner:  NLM     Status:  MEDLINE    
The protein product of the gene that when mutated is responsible for Lowe syndrome, or oculocerebrorenal syndrome (OCRL), is an inositol polyphosphate 5-phosphatase. It has a marked preference for phosphatidylinositol 4,5-bisphosphate although it hydrolyzes all four of the known inositol polyphosphate 5-phosphatase substrates: inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate, and phosphatidylinositol 3,4,5-trisphosphate. The enzyme activity of this protein is determined by a region of 672 out of a total of 970 amino acids that is homologous to inositol polyphosphate 5-phosphatase II. Cell lines from kidney proximal tubules of a patient with Lowe syndrome and a normal individual were used to study the function of OCRL. The cells from the Lowe syndrome patient lack OCRL protein. OCRL is the major phosphatidylinositol 4,5-bisphosphate 5-phosphatase in these cells. As a result, these cells accumulate phosphatidylinositol 4,5-bisphosphate even though at least four other inositol polyphosphate 5-phosphatase isozymes are present in these cells. OCRL is associated with lysosomal membranes in control proximal tubule cell lines suggesting that OCRL may function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes.
X Zhang; P A Hartz; E Philip; L C Racusen; P W Majerus
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of biological chemistry     Volume:  273     ISSN:  0021-9258     ISO Abbreviation:  J. Biol. Chem.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-02-12     Completed Date:  1998-02-12     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  2985121R     Medline TA:  J Biol Chem     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1574-82     Citation Subset:  IM    
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
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MeSH Terms
Binding Sites
Blotting, Western
Cell Line
Fluorescent Antibody Technique, Indirect
Isoenzymes / chemistry
Kidney Tubules, Proximal / enzymology*
Lysosomes / chemistry
Oculocerebrorenal Syndrome / enzymology*
Phosphatidylinositol 4,5-Diphosphate / metabolism*
Phosphoric Monoester Hydrolases / deficiency*
Proteins / analysis*
Grant Support
Reg. No./Substance:
0/Isoenzymes; 0/Phosphatidylinositol 4,5-Diphosphate; 0/Proteins; EC 3.1.3.-/Phosphoric Monoester Hydrolases; EC protein, human

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