INPP5K (inositol polyphosphate-5-phosphatase K)

2011-11-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
MDCCAID,PPS,SKIP
FUSION GENES

Other Information

Locus ID:

NCBI: 51763
MIM: 607875
HGNC: 33882
Ensembl: ENSG00000132376

Variants:

dbSNP: 51763
ClinVar: 51763
TCGA: ENSG00000132376
COSMIC: INPP5K

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132376ENST00000350761J3KN07
ENSG00000132376ENST00000421807Q9BT40
ENSG00000132376ENST00000445774C9JQW8
ENSG00000132376ENST00000449479C9JZB0
ENSG00000132376ENST00000477910K7EPG6
ENSG00000132376ENST00000498390K7ENF7
ENSG00000132376ENST00000571274I3L0Y0
ENSG00000132376ENST00000573790I3NI31
ENSG00000132376ENST00000574561I3L4A5
ENSG00000132376ENST00000574955I3L1R1
ENSG00000132376ENST00000575172I3L2L1
ENSG00000132376ENST00000576646K7EMS8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Insulin signaling pathwayKEGGko04910
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Insulin signaling pathwayKEGGhsa04910
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositolKEGGhsa_M00131
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositolKEGGM00131
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499

References

Pubmed IDYearTitleCitations
125361452003Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation.28
281904562017Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.12
281904592017Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.10
227519292012Regulation of insulin signaling by the phosphatidylinositol 3,4,5-triphosphate phosphatase SKIP through the scaffolding function of Pak1.8
252419002015Differential SKIP expression in PTEN-deficient glioblastoma regulates cellular proliferation and migration.4
228154842012Role of phosphatidylinositol 3,4,5-trisphosphate (PIP3) 5-phosphatase skeletal muscle- and kidney-enriched inositol polyphosphate phosphatase (SKIP) in myoblast differentiation.3
269409762016Glucose-regulated protein 78 (GRP78) binds directly to PIP3 phosphatase SKIP and determines its localization.2
289403382018INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.2
187749502009Suppression of hepatitis B viral gene expression by phosphoinositide 5-phosphatase SKIP.1
296078852018Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease.1

Citation

Dessen P

INPP5K (inositol polyphosphate-5-phosphatase K)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52480/inpp5k