ITPK1 (inositol-tetrakisphosphate 1-kinase)

2014-11-01

Identity

HGNC

ITPK1

LOCATION

14q32.12

LOCUSID

3705

ALIAS

ITRPK1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100605	ENST00000267615	Q13572
ENSG00000100605	ENST00000267615	A0A024R6H3
ENSG00000100605	ENST00000354313	Q13572
ENSG00000100605	ENST00000553452	G3V588
ENSG00000100605	ENST00000554999	G3V3C0
ENSG00000100605	ENST00000555495	G3V4M9
ENSG00000100605	ENST00000555553	G3V5A3
ENSG00000100605	ENST00000556603	Q13572
ENSG00000100605	ENST00000556603	A0A024R6H3
ENSG00000100605	ENST00000557309	G3V588

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Expression (GTEx)

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

Pathway	Source	External ID
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231
Hemostasis	REACTOME	R-HSA-109582
Inositol phosphate metabolism	KEGG	ko00562
Inositol phosphate metabolism	KEGG	hsa00562
Inositol phosphate metabolism	REACTOME	R-HSA-1483249
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate	KEGG	M00132
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate	KEGG	hsa_M00132
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Phosphatidylinositol signaling system	KEGG	ko04070

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19851296	2010	Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.	7
19851296	2010	Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.	7
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	17
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	17
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
22308441	2012	Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.	2
22308441	2012	Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.	2
22928859	2012	Activation 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
22928859	2012	Activation 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
24465924	2014	The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.	10

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Citation

Dessen P

ITPK1 (inositol-tetrakisphosphate 1-kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64694