Property Summary

NCBI Gene PubMed Count 18
PubMed Score 26.59
PubTator Score 24.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
ependymoma 1.300 4.1e-02
psoriasis 1.500 1.7e-04

Protein-protein Interaction (3)

Gene RIF (15)

PMID Text
26916822 PIPKIgamma and INPP5E localize to the centrosome and coordinate the initiation of ciliogenesis.
26490104 MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
25395580 These findings establish the first direct link between AURKA and phosphoinositide signaling and suggest that the function of INPP5E in cilia is at least partly mediated by its interactions with AURKA
24166846 Proteomic analysis identified INPP5E, whose mutations also lead to Joubert syndrome as novel prenyl-dependent cargo of PDE6D. Mutant PDE6D shows reduced binding to INPP5E, which fails to localize to primary cilia in patient fibroblasts and tissues.
23386033 Identification of 12 different INPP5E mutations in patients with Joubert syndrome with an overall 2.7% mutation frequency.
23150559 findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins
22082156 Knockdown of inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
21289126 Overexpression of phosphoinositide 5-phosphatase IV, an enzyme that depletes cellular PI(4,5)P2, severely reduces HIV-1 Gag virus production by retargeting Gag to late endosomes instead of the plasma membrane
21270152 Overexpression of phosphoinositide 5-phosphatase IV, an enzyme that depletes cellular PI(4,5)P2, severely reduces HIV-1 Gag virus production by retargeting Gag to late endosomes instead of the plasma membrane
21068128 Observational study of gene-disease association. (HuGE Navigator)
19668216 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
19668215 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in humans.
18094158 Overexpression of phosphoinositide 5-phosphatase IV, an enzyme that depletes cellular PI(4,5)P2, severely reduces HIV-1 Gag virus production by retargeting Gag to late endosomes instead of the plasma membrane
15465916 Overexpression of phosphoinositide 5-phosphatase IV, an enzyme that depletes cellular PI(4,5)P2, severely reduces HIV-1 Gag virus production by retargeting Gag to late endosomes instead of the plasma membrane
10806194 Functional analysis of the mouse counterpart.

AA Sequence

MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSGEDPPARAAPI      1 - 70
APRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEI     71 - 140
PKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLDIASDSLRTAN    141 - 210
KVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLA    211 - 280
SGALLGADELARYFPDRNVALFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWET    281 - 350
RLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF    351 - 420
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVD    421 - 490
ALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLY    491 - 560
RSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRDNIPLAAGKFDRELYLLGIKRRISKEIQRQQ    561 - 630
ALQSQNSSTICSVS                                                            631 - 644
//

Text Mined References (21)

PMID Year Title
26916822 2016 Phosphatidylinositol phosphate kinase PIPKI? and phosphatase INPP5E coordinate initiation of ciliogenesis.
26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
25395580 2015 INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
24166846 2014 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23150559 2012 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
23034536 2013 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
19668215 2009 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
15164053 2004 DNA sequence and analysis of human chromosome 9.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10806194 2000 Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.
10764818 2000 The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.
10577920 1999 Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.