PDPK1

Chr 16

3-phosphoinositide dependent protein kinase 1

Also known as: PDK1, PRO0461

NCBI Gene: 5170ENSG00000140992UniProt: O15530

Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding activity. Involved in several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and regulation of signal transduction. Acts upstream of or within intracellular signal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

98
ClinVar variants
34
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PDPK1
📋
ClinVar Variants
34 Pathogenic / Likely Pathogenic· 52 VUS of 98 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

98 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic3
VUS52
Likely Benign4
31
Pathogenic
3
Likely Pathogenic
52
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
3
0
3
VUS
1
35
16
0
52
Likely Benign
0
1
0
3
4
Benign
0
0
0
0
0
Total13650390

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PDPK1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Targeting TM4SF1 promotes tumor senescence enhancing CD8+ T cell cytotoxic function in hepatocellular carcinoma.
Zeng W et al.·Clin Mol Hepatol
2025
PDPK1 governs macrophage M2 polarization via hypoxia-driven CD47/AKT-glycolytic Axis in endometriosis.
Li H et al.·Cell Signal
2025
Targeting AKT/PKB to improve treatment outcomes for solid tumors.
Iida M et al.·Mutat Res
2020Review
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE et al.·Genet Med
2019
miR‑16‑2‑3p inhibits cell proliferation and migration and induces apoptosis by targeting PDPK1 in maxillary primordium mesenchymal cells.
Han T et al.·Int J Mol Med
2019
Loss of PDPK1 abrogates resistance to gemcitabine in label-retaining pancreatic cancer cells.
Li D et al.·BMC Cancer
2018
Phosphoinositide protein kinase PDPK1 is a crucial cell signaling mediator in multiple myeloma.
Chinen Y et al.·Cancer Res
2014
A Genome-Wide Screen Identifies PDPK1 as a Target to Enhance the Efficacy of MEK1/2 Inhibitors in NRAS Mutant Melanoma.
Cai W et al.·Cancer Res
2022
Interleukin 1β-mediated HOXC10 Overexpression Promotes Hepatocellular Carcinoma Metastasis by Upregulating PDPK1 and VASP.
Dang Y et al.·Theranostics
2020
Non-allergic eye rubbing is a major behavioral risk factor for keratoconus.
Jaskiewicz K et al.·PLoS One
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
MicroRNA-374b-5p suppresses osteosarcoma progression via the PDPK1-mediated AKT pathway.
Xi Y et al.·Transl Cancer Res
2026🔓 Open Access
Acetylcholine enhances HIF-1α signaling in pancreatic cancer cells under hypoxia through the nAChR-α7/PDPK1/YAP pathway.
Cho Y et al.·Int J Biol Sci
2026🔓 Open Access
CircGLIS3 Regulates the Proliferation and Apoptosis of Bovine Intramuscular Preadipocytes via the miR-21-3p/PDPK1/AKT Axis.
Yu S et al.·J Agric Food Chem
2026
Circ_0084927 promotes progression of intrahepatic cholangiocarcinoma by sponging miR-4725-5p to activate the PDPK1/AKT/mTOR signaling pathway.
Xie C et al.·Cell Signal
2025
Mechanistic role of miR-375 in regulating PDPK1 to promote progression of small bowel neuroendocrine tumors: a silico analysis.
Ren T et al.·Discov Oncol
2025🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools