INPP5E (inositol polyphosphate-5-phosphatase E)

2006-10-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
CORS1,CPD4,JBTS1,MORMS,PPI5PIV,pharbin
FUSION GENES

Other Information

Locus ID:

NCBI: 56623
MIM: 613037
HGNC: 21474
Ensembl: ENSG00000148384

Variants:

dbSNP: 56623
ClinVar: 56623
TCGA: ENSG00000148384
COSMIC: INPP5E

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148384ENST00000371712Q9NRR6

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
ARL13B-mediated ciliary trafficking of INPP5EREACTOMER-HSA-5624958
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
196682162009Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.156
196682152009INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.137
231505592012ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.87
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
241668462014A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.48
108061942000Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.28
253955802015INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.28
273401232016Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.28
269168222016Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis.27
279277542017Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.24

Citation

Dessen P

INPP5E (inositol polyphosphate-5-phosphatase E)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43323/inpp5e