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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ITPK1
inositol-tetrakisphosphate 1-kinase
Chromosome 14 · 14q32.12
NCBI Gene: 3705Ensembl: ENSG00000100605.17HGNC: HGNC:6177UniProt: G3V4M9
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
inositol-3,4,5,6-tetrakisphosphate 1-kinase activityinositol-1,3,4-trisphosphate 6-kinase activityinositol-1,3,4-trisphosphate 5-kinase activityprotein bindinghypothyroidismnontoxic goiterThyrotoxicosismigraine disorder
✦AI Summary

ITPK1 is a multifunctional kinase/phosphatase that catalyzes the synthesis of inositol hexakisphosphate (InsP6), a critical signaling molecule. The enzyme phosphorylates inositol-1,3,4-trisphosphate (Ins(1,3,4)P3) and inositol-3,4,5,6-tetrakisphosphate (Ins(3,4,5,6)P4) to generate inositol pentakisphosphate (IP5), which is further phosphorylated to InsP6 1. ITPK1 also possesses reversible phosphatase activity, allowing bidirectional conversion between IP5 and IP4, positioning it as a rate-limiting enzyme in the InsP6 pathway 2. Mechanistically, ITPK1 regulates calcium-activated chloride channel conductance through Ins(3,4,5,6)P4, which inhibits these channels essential for fluid secretion and cellular homeostasis 2. Clinically, ITPK1 dysfunction is implicated in multiple disease states. ITPK1 polymorphisms are associated with neural tube defects, particularly spina bifida, with reduced InsP6 concentrations and altered gene expression observed in carriers of risk alleles 34. Additionally, ITPK1 shows shared genetic associations with both migraine and thyroid dysfunction 5. Recent evidence indicates ITPK1 participates in insulin signaling-related cognitive decline in Alzheimer's disease, with lower ITPK1 levels moderating the association between AKT1 phosphorylation and cognitive deterioration 6. ITPK1 may regulate necroptotic and apoptotic cell death processes through highly phosphorylated inositol phosphates, representing a therapeutic target for diseases involving aberrant cell death.

Sources cited
1
ITPK1 phosphorylates Ins(1,3,4)P3 and IP4 to generate IP5 and further to IP6; ITPK1 has phosphatase activity and serves as rate-limiting enzyme in IP6 production
PMID: 39922495
2
ITPK1 is a reversible kinase/phosphatase that regulates Ins(3,4,5,6)P4 levels and links to Ca2+-activated chloride channel regulation
PMID: 18272466
3
Maternal ITPK1 polymorphisms (rs3783903) are associated with spina bifida risk with decreased InsP6 concentrations
PMID: 24465924
4
Fetal ITPK1 polymorphisms (rs3818175, rs2295394, rs4586354) are associated with spina bifida and decreased brain inositol levels
PMID: 36323916
5
ITPK1 shows genetic associations with both migraine and thyroid dysfunction in genome-wide association studies
PMID: 36807966
6
Lower ITPK1 levels modify the association between brain insulin signaling and cognitive decline in Alzheimer's disease
PMID: 40183406
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.49Moderate
nontoxic goiterOpen Targets
0.47Moderate
ThyrotoxicosisOpen Targets
0.46Moderate
migraine disorderOpen Targets
0.45Moderate
multinodular goiterOpen Targets
0.44Moderate
thyroid diseaseOpen Targets
0.44Moderate
Toxic Nodular GoiterOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.40Weak
thrombocytopenia 4Open Targets
0.33Weak
goiterOpen Targets
0.32Weak
Hashimoto's thyroiditisOpen Targets
0.32Weak
hyperthyroidismOpen Targets
0.32Weak
coronary artery diseaseOpen Targets
0.31Weak
Chronic painOpen Targets
0.30Weak
PainOpen Targets
0.30Weak
hemorrhagic diseaseOpen Targets
0.27Weak
HeadacheOpen Targets
0.27Weak
chronic obstructive pulmonary diseaseOpen Targets
0.27Weak
Chronic Obstructive AsthmaOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IPPKProtein interaction97%IPMKProtein interaction95%ITPKAProtein interaction94%ITPKBProtein interaction94%INPP5JProtein interaction93%MINPP1Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
50%
Liver
48%
Bone Marrow
40%
Lung
35%
Ovary
27%
Gene Interaction Network
Click a node to explore
ITPK1IPPKIPMKITPKAITPKBINPP5JMINPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB2Q7D · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.47 [0.32–0.71]
RankingsWhere ITPK1 stands among ~20K protein-coding genes
  • #9,604of 20,598
    Most Researched44
  • #5,449of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedITPK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biochemical and biophysical characterization of inositol-tetrakisphosphate 1-kinase inhibitors.
PMID: 39922495
J Biol Chem · 2025
1.00
2
Human ITPK1: a reversible inositol phosphate kinase/phosphatase that links receptor-dependent phospholipase C to Ca2+-activated chloride channels.
PMID: 18272466
Sci Signal · 2008
0.90
3
Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
PMID: 36323916
Reprod Sci · 2023
0.80
4
Migraine and thyroid dysfunction: Co-occurrence, shared genes and biological mechanisms.
PMID: 36807966
Eur J Neurol · 2023
0.70
5
PMID: 31525024
ACS Chem Biol · 2019
0.60