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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PFKL
phosphofructokinase, liver type
Chromosome 21 · 21q22.3
NCBI Gene: 5211Ensembl: ENSG00000141959.18HGNC: HGNC:8876UniProt: P17858
181PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
6-phosphofructokinase activityprotein bindingATP bindingkinase bindingneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

PFKL (phosphofructokinase, liver type) catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate, the first committing step of glycolysis 1. Beyond its canonical glycolytic role, PFKL functions as a metabolic regulator with context-dependent functions. Mechanism: PFKL activity is dynamically regulated through phosphorylation at Ser775 during innate immune activation, increasing its catalytic activity and promoting glycolytic flux 2. During glucose deprivation, PFKL phosphorylation reduces its glycolytic activity but confers a moonlight protein kinase function, enabling PFKL to phosphorylate perilipin 2 (PLIN2) on lipid droplets and facilitate lipid droplet-mitochondria tethering to enhance fatty acid oxidation 3. Disease Relevance: PFKL expression is upregulated in hepatocellular carcinoma (HCC) and esophageal squamous cell carcinoma (ESCC), correlating with poor survival and advanced stages 45. PFKL also regulates vascular calcification through glycolysis-dependent histone lactylation pathways 6. Additionally, PFKL governs immune cell metabolism; selective PFKL activation suppresses the phagocytic oxidative burst in neutrophils by diverting glucose flux away from the pentose phosphate pathway 7. Clinical Significance: PFKL represents a therapeutic target in multiple cancers; EGR1-mediated transcriptional repression of PFKL suppresses HCC growth and enhances sorafenib sensitivity 4, while PFKL inhibition by penfluridol shows anti-cancer efficacy 5.

Sources cited
1
PFKL catalyzes phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate, the first committing step of glycolysis
PMID: 22923583
2
PFKL is phosphorylated at Ser775 following innate stimuli, increasing its catalytic activity and promoting glycolytic flux in macrophages
PMID: 39085210
3
During glucose deprivation, PFKL functions as a protein kinase to phosphorylate PLIN2 and promote lipid droplet-mitochondria tethering for enhanced β-oxidation and tumor cell proliferation
PMID: 38773347
4
PFKL is upregulated in HCC and correlates with advanced stages; EGR1-mediated transcriptional repression of PFKL suppresses HCC growth and aerobic glycolysis
PMID: 38287371
5
High PFKL expression correlates with advanced ESCC stages and poor survival; PFKL inhibition by penfluridol suppresses tumor growth through AMPK/FOXO3a/BIM-dependent mechanisms
PMID: 35530161
6
NR4A3 enhances glycolysis by driving PFKL transcription, promoting histone lactylation and medial arterial calcification
PMID: 38629274
7
Selective PFKL activation suppresses the phagocytic oxidative burst in neutrophils by dampening pentose phosphate pathway flux and reducing NOX2-dependent ROS production
PMID: 34320407
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
Alzheimer diseaseOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
disease of peritoneumOpen Targets
0.21Weak
hepatocellular carcinomaOpen Targets
0.11Weak
autoimmune polyendocrinopathyOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
Nijmegen breakage syndromeOpen Targets
0.04Suggestive
Genetic chronic primary adrenal insufficiencyOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
vitamin B12 deficiencyOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
cardiac hypertrophyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GAPDHProtein interaction100%TALDO1Protein interaction99%PYGBProtein interaction98%TKTProtein interaction98%ACOT1Protein interaction98%PGAM4Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
86%
Lung
66%
Ovary
62%
Brain
47%
Heart
34%
Gene Interaction Network
Click a node to explore
PFKLGAPDHTALDO1PYGBTKTACOT1PGAM4
PROTEIN STRUCTURE
Preparing viewer…
PDB8W2H · 2.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.69–1.03]
RankingsWhere PFKL stands among ~20K protein-coding genes
  • #2,403of 20,598
    Most Researched181 · top quartile
  • #10,144of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedPFKL
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Glycolytic enzyme PFKL governs lipolysis by promoting lipid droplet-mitochondria tethering to enhance β-oxidation and tumor cell proliferation.
PMID: 38773347
Nat Metab · 2024
1.00
2
Orphan Nuclear Receptor NR4A3 Promotes Vascular Calcification via Histone Lactylation.
PMID: 38629274
Circ Res · 2024
0.90
3
EGR1 suppresses HCC growth and aerobic glycolysis by transcriptionally downregulating PFKL.
PMID: 38287371
J Exp Clin Cancer Res · 2024
0.80
4
Selective activation of PFKL suppresses the phagocytic oxidative burst.
PMID: 34320407
Cell · 2021
0.70
5
Structural basis for allosteric regulation of human phosphofructokinase-1.
PMID: 39183237
Nat Commun · 2024
0.64