Inositol 5-phosphatase
Short name | IP5 |
Description
References
1.The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. De Matteis MA, Staiano L, Emma F, Devuyst O. Nat Rev Nephrol 13, 455-470, (2017). View articlePMID: 28669993
2.A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1. Hou X, Hagemann N, Schoebel S, Blankenfeldt W, Goody RS, Erdmann KS, Itzen A. EMBO J. 30, 1659-70, (2011). View articlePMID: 21378754
3.OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin. Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, Levtchenko E, De Leo MG, Polishchuk R, Sandoval L, Marzolo MP, De Matteis MA. EMBO J. 30, 4970-85, (2011). View articlePMID: 21971085
4.OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y. Hum Mol Genet 21, 3333-44, (2012). PMID: 22543976
5.Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djemie T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S, Afawi Z, Baulac S, Barisic N, Caglayan H, Craiu D, De Kovel CG, Lopez RG, Guerrini R, Hjalgrim H, Lerche H, Jahn J, Klein KM, Koeleman BC, Leguern E, Lemke J, Marini C, Muhle H, Rosenow F, Serratosa JM, Sterbova KS, Moller RS, Palotie A, Striano P, Weber Y, Zara F. Brain 139, 2420-30, (2016). PMID: 27435091
GO terms
biological process
molecular function
- None
cellular component
- None
Cross References
Contributing Member Database Entry
- PANTHER:PTHR11200