| 1 | INPP5K, MDCCAID
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| Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
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| Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.
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| Am J Hum Genet 100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.
2017
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| 2 | INPP5K, MDCCAID
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| Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
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| Osborn DP, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.
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| Am J Hum Genet 100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.
2017
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| 3 | HSPA5, INPP5K, PAK1
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| Glucose-regulated protein 78 (GRP78) binds directly to PIP3 phosphatase SKIP and determines its localization.
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| Ijuin T, Hatano N, Takenawa T.
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| Genes Cells 21(5):457-65. doi: 10.1111/gtc.12353. Epub 2016 Mar 4.
2016
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| 4 | INPP5K, MYO1C
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| Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region.
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| Hedberg Oldfors C, Dios DG, Linder A, Visuttijai K, Samuelson E, Karlsson S, Nilsson S, Behboudi A.
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| BMC Genet 16:80. doi: 10.1186/s12863-015-0238-4.
2015
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| 5 | INPP5K, PAK1
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| Improvement of insulin signaling in myoblast cells by an addition of SKIP-binding peptide within Pak1 kinase domain.
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| Ijuin T, Takenawa T.
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| Biochem Biophys Res Commun 456(1):41-6. doi: 10.1016/j.bbrc.2014.11.031. Epub 2014 Nov 18.
2015
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| 6 | INPP5K, MYOD1
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| Role of phosphatidylinositol 3,4,5-trisphosphate (PIP3) 5-phosphatase skeletal muscle- and kidney-enriched inositol polyphosphate phosphatase (SKIP) in myoblast differentiation.
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| Ijuin T, Takenawa T.
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| J Biol Chem 287(37):31330-41. doi: 10.1074/jbc.M112.388785. Epub 2012 Jul 19.
2012
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| 7 | INPP5K
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| Regulation of insulin signaling by the phosphatidylinositol 3,4,5-triphosphate phosphatase SKIP through the scaffolding function of Pak1.
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| Ijuin T, Takenawa T.
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| Mol Cell Biol 32(17):3570-84. doi: 10.1128/MCB.00636-12. Epub 2012 Jul 2.
2012
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| 8 | BAG4, INPP5D, INPP5K, INPPL1
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| Silencer of death domains (SODD) inhibits skeletal muscle and kidney enriched inositol 5-phosphatase (SKIP) and regulates phosphoinositide 3-kinase (PI3K)/Akt signaling to the actin cytoskeleton.
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| Rahman P, Huysmans RD, Wiradjaja F, Gurung R, Ooms LM, Sheffield DA, Dyson JM, Layton MJ, Sriratana A, Takada H, Tiganis T, Mitchell CA.
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| J Biol Chem 286(34):29758-70. Epub 2011 Jun 28.
2011
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| 9 | INPP5K
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| The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system.
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| Pernot E, Terryn S, Cheong SC, Markadieu N, Janas S, Blockmans M, Jacoby M, Pouillon V, Gayral S, Rossier BC, Beauwens R, Erneux C, Devuyst O, Schurmans S.
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| Pflugers Arch 462(6):871-83. doi: 10.1007/s00424-011-1028-0. Epub 2011 Sep 22.
2011
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| 10 | INPP5D, INPP5E, INPP5K
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| The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
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| Ooms LM, Horan KA, Rahman P, Seaton G, Gurung R, Kethesparan DS, Mitchell CA.
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| Biochem J 419(1):29-49. Review.PMID: 19272022 2009
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| 11 | INPP5K
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| Increased insulin action in SKIP heterozygous knockout mice.
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| Ijuin T, Yu YE, Mizutani K, Pao A, Tateya S, Tamori Y, Bradley A, Takenawa T.
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| Mol Cell Biol 28(17):5184-95. doi: 10.1128/MCB.01990-06. Epub 2008 Jun 23.
2008
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| 12 | ACOT2, AFAP1L1, ALG11, ANKS1A, ARMC6, ARPC1A, ARPC3, ARPC5L, ATG10, ATP5L, BAZ1A, BCAS2, C2orf44, CAPZA1, CAPZA2, CCDC47, CERS2, CMBL, CPSF2, CSTF3, CXorf56, EXT2, FAF2, FBXO4, FIBP, GLRX3, GPS1, GSKIP, INPP5K, KPNA4, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT36, LUC7L2, MAGED1, MED7, MMS22L, MPRIP, MPRIP, MRCL3, NAA25, NDN, NPEPPS, NRDE2, OLA1, ORCTL3, OSTF1, PH4B, PIP5K1B, PKIG, PMVK, PSMC1, PSMC2, PSPH, RAB11FIP1, RBX1, RNF219, RO60, RPS14, SF3B14, SF3B2, SFRS12, STK25, TLK2, TONSL, TPM3, TRMT112, TSPAN17, TWF2, UBE2M, UNC45A, UQCRC1, WRAP73, XPO7, ZRANB2
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| Large-scale mapping of human protein-protein interactions by mass spectrometry.
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| Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D.
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| Mol Syst Biol 3:89. Epub 2007 Mar 13. 2007
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| 13 | INPP5J, INPP5K
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| Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation.
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| Gurung R, Tan A, Ooms LM, McGrath MJ, Huysmans RD, Munday AD, Prescott M, Whisstock JC, Mitchell CA.
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| J Biol Chem 278(13):11376-85. Epub 2003 Jan 20. 2003
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| 14 | INPP5K, SLC2A4
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| SKIP negatively regulates insulin-induced GLUT4 translocation and membrane ruffle formation.
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| Ijuin T, Takenawa T.
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| Mol Cell Biol 23(4):1209-20.
2003
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| 15 | INPP5K, PABPN1, SNW1
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| The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
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| Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K.
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| Hum Mol Genet 10(11):1129-39. 2001
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| 16 | INPP5K
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| Identification and characterization of a novel inositol polyphosphate 5-phosphatase.
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| Ijuin T, Mochizuki Y, Fukami K, Funaki M, Asano T, Takenawa T.
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| J Biol Chem 275(15):10870-5. 2000
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