RecName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV - Protein

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The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling. [Cell Rep. 2022]
The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling.
Schembs L, Willems A, Hasenpusch-Theil K, Cooper JD, Whiting K, Burr K, Bøstrand SMK, Selvaraj BT, Chandran S, Theil T. Cell Rep. 2022 May 17; 39(7):110811.
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome. [EMBO J. 2016]
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
Hasegawa J, Iwamoto R, Otomo T, Nezu A, Hamasaki M, Yoshimori T. EMBO J. 2016 Sep 1; 35(17):1853-67. Epub 2016 Jun 23.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. [Nat Genet. 2009]
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, et al. Nat Genet. 2009 Sep; 41(9):1032-6. Epub 2009 Aug 9.

RefSeq genomic sequence
See the genomic reference sequence for the INPP5E gene (NG_016126.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the INPP5E gene.

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Q9NRR6 [Domain Mapping of Disease Mut...]
Q9NRR6
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV; AltName:...
RecName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV; AltName: Full=72 kDa inositol polyphosphate 5-phosphatase; AltName: Full=Inositol polyphosphate-5-phosphatase E; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; Flags: Precursor
gi|212276439|sp|Q9NRR6.2|INP5E_HUMA

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