Citations for
1ARL13B, IFT46, INPP5E, TTC26
Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.
Nozaki S, Katoh Y, Terada M, Michisaka S, Funabashi T, Takahashi S, Kontani K, Nakayama K.
J Cell Sci 130(3):563-576. doi: 10.1242/jcs.197004. Epub 2016 Dec 7. 2017
2ARL13B, INPP5E, MKS1
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.
J Med Genet 53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. 2016
3INPP5E, INPP5J
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Eramo MJ, Mitchell CA.
Biochem Soc Trans 44(1):240-52. doi: 10.1042/BST20150214. Review. 2016
4INPP5E, PDE6D
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.
Hum Mutat 35(1):137-46. 2014
5INPP5E, JBTS1
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.
Eur J Hum Genet 21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. 2013
6CEP164, INPP5E
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S.
Proc Natl Acad Sci U S A 109(48):19691-6. doi: 10.1073/pnas.1210916109. Epub 2012 Nov 12. 2012
7ARL13B, CC2D2A, CEP290, GLIS2, INPP5E, INVS, NEK8, NPHP2, NPHP4, TMEM67, TTC21B, XPNPEP3
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.
J Med Genet 48(2):105-16. Epub 2010 Nov 10. 2011
8INPP5D, INPP5E, INPP5K
The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
Ooms LM, Horan KA, Rahman P, Seaton G, Gurung R, Kethesparan DS, Mitchell CA.
Biochem J 419(1):29-49. Review.PMID: 19272022 2009
9INPP5E, MORM
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S.
Nat Genet 41(9):1027-31. Epub 2009 Aug 9.PMID: 19668215 2009
10INPP5E, JBTS1, MORM
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG.
Nat Genet 41(9):1032-6. Epub 2009 Aug 9.PMID: 19668216 2009
11INPP5E
The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.
Kisseleva MV, Wilson MP, Majerus PW.
J Biol Chem 275(26):20110-6. 2000
12INPP5E
Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.
Kong AM, Speed CJ, O'Malley CJ, Layton MJ, Meehan T, Loveland KL, Cheema S, Ooms LM, Mitchell CA.
J Biol Chem 275(31):24052-64.PMID: 10806194 2000
13ARID4B, BOP1, CACNA2D2, CCT5, CKAP5, CTR9, DCLRE1A, DGKD, DHX34, EIF3A, EIF4A3, EMC1, EMC2, EXOSC7, FAM175B, FAM53B, GANAB, GGA3, GIT2, GPD1L, INPP5E, KEAP1, KIAA0082, KIAA0087, KIAA0114, KIAA0125, KIAA0141, MAD2L1BP, MBTPS1, METAP1, MORC3, NCAPD2, NUP93, OEATC1, PASK, PMPCA, PRDX6, PSMD6, PUM1, RBM10, SAFB2, SART3, SCRIB, SERTAD2, SNRK, SPCS2, TAGLN2, THRAP4, TRIM14, TTLL12, UBAP2L, UBE4A, URB2, ZC3H3
Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S,Ishikawa K, Kawarabayasi Y, Kotani H, et al.
DNA Res 2(1):37-43. 1995