From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
OCRL
Identifiers
Aliases
OCRL , LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase, OCRL inositol polyphosphate-5-phosphatase, INPP5F, Dent-2, DENT2External IDs
OMIM :
300535
MGI :
109589
HomoloGene :
233
GeneCards :
OCRL
Wikidata
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 an inositol polyphosphate 5-phosphatase. The responsible gene locus is at Xq26.1. This
phosphatase enzyme is in part responsible for regulating membrane trafficking
actin polymerization, and is located in several subcellular parts of the trans-Golgi network.
Deficiencies in OCRL-1 may cause with
oculocerebrorenal syndrome
[6] and also have been linked to
Dent's disease .
[7]
[8]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000122126 –
Ensembl , May 2017
^
a
b
c
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 .
Further reading
Ross MT, Grafham DV, Coffey AJ, et al. (2005).
"The DNA sequence of the human X chromosome" . Nature . 434 (7031): 325–37.
Bibcode :
2005Natur.434..325R .
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.
Bibcode :
2010PNAS..107.3511S .
doi :
10.1073/pnas.0914658107 .
PMC
2840420 .
PMID
20133602 .
External links