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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPIP5K1
diphosphoinositol pentakisphosphate kinase 1
Chromosome 15 · 15q15.3
NCBI Gene: 9677Ensembl: ENSG00000168781.24HGNC: HGNC:29023UniProt: A0A8J8ZH50
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolinositol hexakisphosphate kinase activity5-diphosphoinositol pentakisphosphate 1-kinase activityinositol-1,3,4,5,6-pentakisphosphate kinase activityneurodegenerative diseaseinfectiondiverticular diseasedepressive disorder
✦AI Summary

PPIP5K1 encodes a bifunctional kinase that synthesizes highly phosphorylated inositol pyrophosphates, including diphosphoinositol pentakisphosphate (PP-InsP5/InsP7) and bis-diphosphoinositol tetrakisphosphate ((PP)2-InsP4/InsP8), by phosphorylating InsP6 and PP-InsP5 12. The enzyme contains a kinase domain and a unique polyphosphoinositide-binding domain (PBD1) with high affinity for PtdIns(3,4,5)P3 (Kd=96 nM) 3. Upon growth factor stimulation or hyperosmotic stress, PPIP5K1 translocates from the cytoplasm to the plasma membrane via PtdIns(3,4,5)P3 binding, where it locally depletes its substrates InsP6 and 5-InsP7 41. This mechanism modulates competition between inositol pyrophosphates and PtdIns(3,4,5)P3 for binding to pleckstrin homology domains, thereby regulating insulin signaling and mTOR pathway activation 4. PPIP5K1 also contains an evolutionarily conserved intrinsically disordered region that interacts with the exocyst complex, influencing cell motility and vesicle trafficking 5. The enzyme undergoes alternative splicing during stem cell differentiation, indicating developmental regulation 6. PPIP5K1 is activated approximately 4-fold during osmotic stress, highlighting its role in cellular stress responses 1.

Sources cited
1
PPIP5K1 synthesizes (PP)2-InsP4 from PP-InsP5, is activated by osmotic stress, and localizes to cytoplasm
PMID: 17702752
2
PPIP5K1 belongs to diphosphoinositol polyphosphate kinases that regulate cellular processes including stress responses and signaling
PMID: 23107997
3
PPIP5K1 contains a PtdIns(3,4,5)P3-binding domain with Kd=96 nM and translocates to plasma membrane upon agonist stimulation
PMID: 21222653
4
PPIP5K1 translocation modulates ligand competition between inositol pyrophosphates and PtdIns(3,4,5)P3 for PH domains, affecting insulin signaling
PMID: 23682967
5
PPIP5K1 contains an intrinsically disordered region that interacts with exocyst complex and regulates cell motility
PMID: 26854614
6
PPIP5K1 undergoes alternative splicing during stem cell differentiation as part of a regulated splicing program
PMID: 24048253
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
infectionOpen Targets
0.05Suggestive
diverticular diseaseOpen Targets
0.05Suggestive
depressive disorderOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.03Suggestive
chronic hepatitis B virus infectionOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
bronchiolitisOpen Targets
0.03Suggestive
viral diseaseOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
HIV infectionOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Other metabolic diseaseOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
Hepatic steatosisOpen Targets
0.01Suggestive
hepatitis C virus infectionOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIP5K2Protein interaction97%CATSPER2Protein interaction95%STRCProtein interaction94%CKMT1BProtein interaction87%IPPKProtein interaction86%ADCYAP1Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Ovary
83%
Bone Marrow
68%
Heart
63%
Liver
61%
Lung
42%
Gene Interaction Network
Click a node to explore
PPIP5K1PPIP5K2CATSPER2STRCCKMT1BIPPKADCYAP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6PFW1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.25Tolerant
Observed/Expected LoF0.42 [0.25–0.77]
RankingsWhere PPIP5K1 stands among ~20K protein-coding genes
  • #12,007of 20,598
    Most Researched30
  • #6,188of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedPPIP5K1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
When worlds collide: inositol pyrophosphates and phosphoinositides intersect at the plasma membrane.
PMID: 23849059
Biochem J · 2013
1.00
2
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
PMID: 35022556
Sci Rep · 2022
0.90
3
PPIP5K1 modulates ligand competition between diphosphoinositol polyphosphates and PtdIns(3,4,5)P3 for polyphosphoinositide-binding domains.
PMID: 23682967
Biochem J · 2013
0.80
4
PPIP5K1 interacts with the exocyst complex through a C-terminal intrinsically disordered domain and regulates cell motility.
PMID: 26854614
Cell Signal · 2016
0.70
5
MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation.
PMID: 24048253
Nat Commun · 2013
0.60