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Oculocerebrorenal Syndrome Of Lowe (OCRL)

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OCRL1; INPP5F; Lowe oculocerebrorenal syndrome protein; Inositol polyphosphate 5-phosphatase OCRL-1

Oculocerebrorenal Syndrome Of Lowe (OCRL)
CCC P816
HGNC 8108
MGI 109589
PubMed 17765681
RGD 1594526
UniProt Q01968
Wiki OCRL
The OCRL gene encodes a phosphatidylinositol 4,5-bisphosphate-5-phosphatase localized to the trans-Golgi network that is involved in actin polymerization. This cDNA encoded amino acids 264 through 968 of the OCRL protein. Recombinant OCRL protein hydrolyzed phospholipid substrate 10- to 30-fold better than 5-phosphatase II, and 5-phosphatase I did not cleave the lipid at all. OCRL functions as a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in OCRL-expressing Sf9 cells. The results suggested that OCRL is mainly a lipid phosphatase that may control cellular levels of a critical metabolite, phosphatidylinositol 4,5-bisphosphate. Deficiency of this enzyme apparently causes the protean manifestations of Lowe syndrome.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
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Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oculocerebrorenal Syndrome Of Lowe (OCRL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oculocerebrorenal Syndrome Of Lowe (OCRL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oculocerebrorenal Syndrome Of Lowe (OCRL) Polyclonal Antibody Customized Service Offer
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n/a ELISA Kit for Oculocerebrorenal Syndrome Of Lowe (OCRL) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Oculocerebrorenal Syndrome Of Lowe (OCRL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Oculocerebrorenal Syndrome Of Lowe (OCRL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Oculocerebrorenal Syndrome Of Lowe (OCRL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Oculocerebrorenal Syndrome Of Lowe (OCRL) CLIA Kit Customized Service Offer
n/a ELISA Kit for Oculocerebrorenal Syndrome Of Lowe (OCRL) ELISA Kit Customized Service Offer
  1. "The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase."Nature 358:239-242(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Physical mapping and genomic structure of the Lowe syndrome gene OCRL1."Hum. Genet. 99:145-150(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe."Hum. Mol. Genet. 2:461-463(1993) [PubMed] [Europe PMC] [Abstract]
  7. "The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase."Proc. Natl. Acad. Sci. U.S.A. 92:4853-4856(1995) [PubMed] [Europe PMC] [Abstract]
  8. "Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate."J. Biol. Chem. 273:1574-1582(1998) [PubMed] [Europe PMC] [Abstract]
  9. "Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1."Proc. Natl. Acad. Sci. U.S.A. 107:3511-3516(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway."Mol. Biol. Cell 22:606-623(2011) [PubMed] [Europe PMC] [Abstract]
  12. "OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome."Hum. Mol. Genet. 21:3333-3344(2012) [PubMed] [Europe PMC] [Abstract]
  13. "The Lowe syndrome protein OCRL1 is involved in primary cilia assembly."Hum. Mol. Genet. 21:1835-1847(2012) [PubMed] [Europe PMC] [Abstract]
  14. "Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL."Trends Biochem. Sci. 37:134-143(2012) [PubMed] [Europe PMC] [Abstract]
  15. "A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism."EMBO J. 28:1831-1842(2009) [PubMed] [Europe PMC] [Abstract]
  16. "A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1."EMBO J. 30:1659-1670(2011) [PubMed] [Europe PMC] [Abstract]
  17. "A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway."Dev. Cell 13:377-390(2007) [PubMed] [Europe PMC] [Abstract]
  18. "Recognition of the F&H motif by the Lowe syndrome protein OCRL."Nat. Struct. Mol. Biol. 18:789-795(2011) [PubMed] [Europe PMC] [Abstract]
  19. "Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome."Am. J. Hum. Genet. 60:1384-1388(1997) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients."Mol. Genet. Metab. 64:58-61(1998) [PubMed] [Europe PMC] [Abstract]
  21. "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes."Am. J. Med. Genet. 77:348-355(1998) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome."Clin. Genet. 54:199-202(1998) [PubMed] [Europe PMC] [Abstract]
  23. "OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling."Hum. Mutat. 16:157-165(2000) [PubMed] [Europe PMC] [Abstract]
  24. "Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination."Mol. Genet. Metab. 69:213-222(2000) [PubMed] [Europe PMC] [Abstract]
  25. "Dent disease with mutations in OCRL1."Am. J. Hum. Genet. 76:260-267(2005) [PubMed] [Europe PMC] [Abstract]
  26. "OCRL1 mutations in patients with Dent disease phenotype in Japan."Pediatr. Nephrol. 22:975-980(2007) [PubMed] [Europe PMC] [Abstract]
  27. "Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation."J. Child Neurol. 24:93-96(2009) [PubMed] [Europe PMC] [Abstract]
  28. "From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes."Hum. Mutat. 32:379-388(2011) [PubMed] [Europe PMC] [Abstract]