OCRL

OCRL
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4CMN, 2KIE, 2QV2, 3QBT, 3QIS
Identifiers
Aliases	OCRL, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase, OCRL inositol polyphosphate-5-phosphatase, INPP5F, Dent-2
External IDs	OMIM: 300535 MGI: 109589 HomoloGene: 233 GeneCards: OCRL
Gene location (Human)
Chr.	X chromosome (human)[1]
End	129,592,561 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	47,965,868 bp[2]
Gene ontology
Molecular function	• Rac GTPase binding; • phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; • GO:0001948 protein binding; • hydrolase activity; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • inositol-1,4,5-trisphosphate 5-phosphatase activity; • inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity; • phosphatidylinositol phosphate 4-phosphatase activity; • phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; • inositol phosphate phosphatase activity;
Cellular component	• cytoplasm; • cytosol; • endosome; • phagocytic vesicle membrane; • Golgi apparatus; • cell projection; • early endosome membrane; • membrane; • cell membrane; • cilium; • Golgi-associated vesicle; • trans-Golgi network; • early endosome; • Golgi stack; • clathrin-coated pit; • cytoplasmic vesicle; • cell nucleus; • clathrin-coated vesicle; • photoreceptor outer segment;
Biological process	• lipid metabolism; • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity; • in utero embryonic development; • inositol phosphate metabolic process; • cell projection organization; • phosphatidylinositol dephosphorylation; • phosphatidylinositol biosynthetic process; • regulation of small GTPase mediated signal transduction; • signal transduction; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • phosphatidylinositol-3-phosphate biosynthetic process; • cilium morphogenesis; • membrane organization; • inositol phosphate dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	4952
	320634
	ENSG00000122126
	ENSMUSG00000001173
	Q01968
	Q6NVF0
	NM_000276; NM_001587; NM_001318784
	NM_177215
	NP_000267; NP_001305713; NP_001578
	NP_796189
	Wikidata
View/Edit Human	View/Edit Mouse

Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.[5]

This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.[5]

Mutation in this gene are associated with oculocerebrorenal syndrome[6] and also with Dent's disease.[7][8]

References

GRCh38: Ensembl release 89: ENSG00000122126 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000001173 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: oculocerebrorenal syndrome of Lowe".
Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet. 77 (5): 348–55. doi:10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J. PMID 9632163.
Online Mendelian Inheritance in Man (OMIM): 300555
Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1". Am. J. Hum. Genet. 76 (2): 260–7. doi:10.1086/427887. PMC 1196371. PMID 15627218.

Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
Erdmann KS, Mao Y, McCrea HJ, et al. (2007). "A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway". Dev. Cell. 13 (3): 377–90. doi:10.1016/j.devcel.2007.08.004. PMC 2025683. PMID 17765681.
Hyvola N, Diao A, McKenzie E, et al. (2006). "Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases". EMBO J. 25 (16): 3750–61. doi:10.1038/sj.emboj.7601274. PMC 1553191. PMID 16902405.
Mao Y, Balkin DM, Zoncu R, et al. (2009). "A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism". EMBO J. 28 (13): 1831–42. doi:10.1038/emboj.2009.155. PMC 2711190. PMID 19536138.
Suchy SF, Cronin JC, Nussbaum RL (2009). "Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1". J. Inherit. Metab. Dis. 32 (2): 280–8. doi:10.1007/s10545-009-1058-3. PMID 19172411. S2CID 31583330.
Wu F, Reed AA, Williams SE, et al. (2009). "Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease". Nephron Physiol. 112 (4): 53–62. doi:10.1159/000225944. PMID 19546591. S2CID 24946606.
Coon BG, Mukherjee D, Hanna CB, et al. (2009). "Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase". Hum. Mol. Genet. 18 (23): 4478–91. doi:10.1093/hmg/ddp407. PMC 7289333. PMID 19700499.
Tosetto E, Addis M, Caridi G, et al. (2009). "Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations". Pediatr. Nephrol. 24 (10): 1967–73. doi:10.1007/s00467-009-1228-4. PMID 19582483. S2CID 25741167.
Faucherre A, Desbois P, Nagano F, et al. (2005). "Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology". Hum. Mol. Genet. 14 (11): 1441–8. doi:10.1093/hmg/ddi153. PMID 15829501.
Shrimpton AE, Hoopes RR, Knohl SJ, et al. (2009). "OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability". Nephron Physiol. 112 (2): 27–36. doi:10.1159/000213506. PMID 19390221. S2CID 21834343.
Sekine T, Nozu K, Iyengar R, et al. (2007). "OCRL1 mutations in patients with Dent disease phenotype in Japan". Pediatr. Nephrol. 22 (7): 975–80. doi:10.1007/s00467-007-0454-x. PMID 17384968. S2CID 20047399.
Chabaâ L, Monnier N, Dahri S, et al. (2006). "[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]". Ann. Biol. Clin. (Paris). 64 (1): 53–9. PMID 16420990.
Choudhury R, Diao A, Zhang F, et al. (2005). "Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network". Mol. Biol. Cell. 16 (8): 3467–79. doi:10.1091/mbc.E05-02-0120. PMC 1182289. PMID 15917292.
Sethi SK, Bagga A, Gulati A, et al. (2008). "Mutations in OCRL1 gene in Indian children with Lowe syndrome". Clin. Exp. Nephrol. 12 (5): 358–62. doi:10.1007/s10157-008-0059-0. PMID 18500547. S2CID 3458176.
Cui S, Guerriero CJ, Szalinski CM, et al. (2010). "OCRL1 function in renal epithelial membrane traffic". Am. J. Physiol. Renal Physiol. 298 (2): F335-45. doi:10.1152/ajprenal.00453.2009. PMC 2822509. PMID 19940034.
McCrea HJ, Paradise S, Tomasini L, et al. (2008). "All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding". Biochem. Biophys. Res. Commun. 369 (2): 493–9. doi:10.1016/j.bbrc.2008.02.067. PMC 2442618. PMID 18307981.
Hoopes RR, Shrimpton AE, Knohl SJ, et al. (2005). "Dent Disease with mutations in OCRL1". Am. J. Hum. Genet. 76 (2): 260–7. doi:10.1086/427887. PMC 1196371. PMID 15627218.
Levtchenko EN, Monnens LA, Bökenkamp A, Knoers NV (2007). "[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]". Ned Tijdschr Geneeskd. 151 (43): 2377–80. PMID 18019214.
Choudhury R, Noakes CJ, McKenzie E, et al. (2009). "Differential clathrin binding and subcellular localization of OCRL1 splice isoforms". J. Biol. Chem. 284 (15): 9965–73. doi:10.1074/jbc.M807442200. PMC 2665120. PMID 19211563.
Swan LE, Tomasini L, Pirruccello M, et al. (2010). "Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1". Proc. Natl. Acad. Sci. U.S.A. 107 (8): 3511–6. doi:10.1073/pnas.0914658107. PMC 2840420. PMID 20133602.

External links

GeneReviews/NCBI/NIH/UW entry on Lowe Syndrome
OCRL+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
PDBe-KB provides an overview of all the structure information available in the PDB for Human Inositol polyphosphate 5-phosphatase OCRL-1

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000122126 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001173 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: oculocerebrorenal syndrome of Lowe".

[pmid9632163-6] Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet. 77 (5): 348–55. doi:10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J. PMID 9632163.

[7] Online Mendelian Inheritance in Man (OMIM): 300555

[pmid15627218-8] Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1". Am. J. Hum. Genet. 76 (2): 260–7. doi:10.1086/427887. PMC 1196371. PMID 15627218.

OCRL

References

Further reading

External links