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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PANK1
pantothenate kinase 1
Chromosome 10 · 10q23.31
NCBI Gene: 53354Ensembl: ENSG00000152782.19HGNC: HGNC:8598UniProt: A0A8C8KBT8
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein homodimerization activitypantothenate kinase activityacetyl-CoA bindingneurodegenerative diseaseParkinson diseaseAlzheimer diseasemultiple sclerosis
✦AI Summary

PANK1 (pantothenate kinase 1) catalyzes the phosphorylation of pantothenate (vitamin B5) to 4'-phosphopantothenate, initiating the rate-limiting step of coenzyme A (CoA) biosynthesis 1. This catalytic function is essential for cellular processes including the tricarboxylic acid cycle, lipid synthesis, histone acetylation, and fuel oxidation in cardiac tissue 12. PANK1 expression is transcriptionally regulated by p53 in response to DNA damage and metabolic stress, linking CoA synthesis to tumor suppression and energy homeostasis 34. p53 activation of PANK1 also drives production of miRNA-107, which suppresses cell cycle regulators CDK6 and p130 3. Clinically, PANK1 has diverse disease relevance. SGLT2 inhibitors directly activate PANK1 to promote CoA synthesis and improve cardiac contractility in heart failure patients, explaining their therapeutic benefits 2. In glioma, PANK1 expression is downregulated and independently predicts prognosis, with high expression correlating with better outcomes 5. Conversely, a circular RNA derived from PANK1 (circ-Pank1) is elevated in Parkinson's disease models and promotes neurodegeneration through the miR-7a-5p/α-synuclein pathway 6. Genetic variants in PANK1 associate with asthma exacerbations and regulate local gene expression and DNA methylation 6. Mutations in PANK1 cause neurometabolic diseases including pantothenate kinase-associated neurodegeneration (PKAN) 1.

Sources cited
1
PANK1 catalyzes rate-limiting step of CoA biosynthesis from pantothenate; mutations cause PKAN, cataracts, and cardiomyopathy
PMID: 38871981
2
p53 directly activates PANK1 transcription and its intronic miRNA-107, which downregulates cell cycle proteins CDK6 and p130
PMID: 20833636
3
SGLT2 inhibitors directly activate PANK1 enzymatically to promote CoA synthesis and improve cardiac contractility in heart failure
PMID: 39091820
4
PANK1 genetic variants associated with asthma exacerbations and regulate gene expression and DNA methylation in inflammation pathways
PMID: 35754128
5
PANK1 expression is downregulated in glioma and high expression independently predicts better prognosis
PMID: 37138430
6
Circular RNA circ-Pank1 is elevated in Parkinson's disease and promotes dopaminergic neurodegeneration via miR-7a-5p/α-synuclein pathway
PMID: 35754128
7
p53 transcriptionally activates PANK1 under metabolic stress to maintain CoA levels and gluconeogenesis
PMID: 23343762
8
Pank1 deficiency reduces hepatic CoA and improves glucose metabolism in leptin-deficient obese mice
PMID: 24781151
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
Parkinson diseaseOpen Targets
0.43Moderate
Alzheimer diseaseOpen Targets
0.41Moderate
multiple sclerosisOpen Targets
0.41Moderate
lysosomal storage diseaseOpen Targets
0.41Moderate
alcohol drinkingOpen Targets
0.16Weak
color vision disorderOpen Targets
0.13Weak
colorectal cancerOpen Targets
0.11Weak
mathematical abilityOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
glycogen storage disease VIOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
cardiac transplantOpen Targets
0.05Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
premature birthOpen Targets
0.05Suggestive
VitiligoOpen Targets
0.05Suggestive
preeclampsiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCAKDShared pathway100%PPCDCProtein interaction98%COASYProtein interaction98%VNN2Protein interaction91%VNN1Protein interaction91%ENPP1Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
23%
Brain
14%
Ovary
4%
Lung
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
PANK1DCAKDPPCDCCOASYVNN2VNN1ENPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB2I7N · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.53 [0.35–0.82]
RankingsWhere PANK1 stands among ~20K protein-coding genes
  • #12,197of 20,598
    Most Researched29
  • #6,895of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedPANK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Coenzyme A biosynthesis: mechanisms of regulation, function and disease.
PMID: 38871981
Nat Metab · 2024
1.00
2
p53 activates the PANK1/miRNA-107 gene leading to downregulation of CDK6 and p130 cell cycle proteins.
PMID: 20833636
Nucleic Acids Res · 2011
0.90
3
SGLT2 inhibitors activate pantothenate kinase in the human heart.
PMID: 39091820
bioRxiv · 2024
0.80
4
circ-Pank1 promotes dopaminergic neuron neurodegeneration through modulating miR-7a-5p/α-syn pathway in Parkinson's disease.
PMID: 35589691
Cell Death Dis · 2022
0.70
5
Expression and Prognostic Role of PANK1 in Glioma.
PMID: 37138430
Comb Chem High Throughput Screen · 2024
0.60