Property Summary

NCBI Gene PubMed Count 18
Grant Count 9
R01 Count 6
Funding $780,113.91
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 0.041
psoriasis 1.500 0.000

Gene RIF (17)

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
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
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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.
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