ITPK1 (inositol-tetrakisphosphate 1-kinase)

2014-11-01  

Identity

HGNC
ITPK1
LOCATION
14q32.12
LOCUSID
3705
ALIAS
ITRPK1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3705
MIM: 601838
HGNC: 6177
Ensembl: ENSG00000100605

Variants:

dbSNP: 3705
ClinVar: 3705
TCGA: ENSG00000100605
COSMIC: ITPK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100605ENST00000267615Q13572
ENSG00000100605ENST00000267615A0A024R6H3
ENSG00000100605ENST00000354313Q13572
ENSG00000100605ENST00000553452G3V588
ENSG00000100605ENST00000554999G3V3C0
ENSG00000100605ENST00000555495G3V4M9
ENSG00000100605ENST00000555553G3V5A3
ENSG00000100605ENST00000556603Q13572
ENSG00000100605ENST00000556603A0A024R6H3
ENSG00000100605ENST00000557309G3V588

Expression (GTEx)

0
50
100
150
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
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytateKEGGM00132
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363239162023Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.0
363239162023Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.0
317540322019ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism.32
317540322019ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism.32
244659242014The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.10
244659242014The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.10
223084412012Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.2
229288592012Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.6
223084412012Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.2
229288592012Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.6
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17

Citation

Dessen P

ITPK1 (inositol-tetrakisphosphate 1-kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64694/gene-fusions-explorer/js/lib/case-report-explorer/