IPPK (inositol-pentakisphosphate 2-kinase)

2014-11-01  

Identity

HGNC
LOCATION
9q22.31
LOCUSID
ALIAS
C9orf12,INSP5K2,IP5K,IPK1,bA476B13.1
FUSION GENES

Other Information

Locus ID:

NCBI: 64768
HGNC: 14645
Ensembl: ENSG00000127080

Variants:

dbSNP: 64768
ClinVar: 64768
TCGA: ENSG00000127080
COSMIC: IPPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127080ENST00000287996Q9H8X2
ENSG00000127080ENST00000375522X6R9A6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytateKEGGM00132
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IPs in the nucleusREACTOMER-HSA-1855191
Synthesis of pyrophosphates in the cytosolREACTOMER-HSA-1855167
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytateKEGGhsa_M00132

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120847302002The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase.32
269766042016Inositol hexakisphosphate (IP6) generated by IP5K mediates cullin-COP9 signalosome interactions and CRL function.11
297465422018Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect.4
241651222013Conformational stability of inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPK1) dictates its substrate selectivity.1
301323432018Urine inositol pentakisphosphate 2-kinase and changes in kidney structure in early diabetic kidney disease in type 1 diabetes.0

Citation

Dessen P

IPPK (inositol-pentakisphosphate 2-kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64642/ippk