INPP5K (inositol polyphosphate-5-phosphatase K)

2011-11-01  

Identity

HGNC
INPP5K
LOCATION
17p13.3
LOCUSID
51763
ALIAS
MDCCAID,PPS,SKIP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
365990862023INPP5K controls the dynamic structure and signaling of wild-type and mutated, leukemia-associated IL-7 receptors.1
365990862023INPP5K controls the dynamic structure and signaling of wild-type and mutated, leukemia-associated IL-7 receptors.1
330600522021The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.3
337926642021INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.5
345565342021INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.4
330600522021The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.3
337926642021INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.5
345565342021INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.4
316280712020Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.6
324203862020The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.1
316280712020Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.6
324203862020The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.1
302257652019Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain.5
302257652019Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain.5
289403382018INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.9

Citation

Dessen P

INPP5K (inositol polyphosphate-5-phosphatase K)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52480/deep-insight-explorer/js/web-card-_common.js