F
IPR046985

Inositol 5-phosphatase

InterPro entry
Short nameIP5

Description

This entry represents a family inositol 5-phosphatases and similar proteins predominantly found in eukaryotes including Synaptojanin-1 (SYNJ1), phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (PI5PA) and inositol polyphosphate 5-phosphatase OCRL from humans. These enzymes act on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate
[5, 7]
. OCRL regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes
[3]
and is involved in primary cilia assembly
[6, 4]
. This protein is associated with the oculocerebrorenal syndrome of Lowe and Dent disease 2
[2, 1]
.

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

6.The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC. Hum Mol Genet 21, 1835-47, (2012). PMID: 22228094

7.The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase. Kisseleva MV, Wilson MP, Majerus PW. J Biol Chem 275, 20110-6, (2000). PMID: 10764818

GO terms

molecular function

  • None

cellular component

  • None

Cross References

Contributing Member Database Entry
This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our Privacy Notice and Terms of Use.