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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PANK4
pantothenate kinase 4 (inactive)
Chromosome 1 Β· 1p36.32
NCBI Gene: 55229Ensembl: ENSG00000157881.17HGNC: HGNC:19366UniProt: Q9NVE7
62PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatase activitypantothenate kinase activitynucleuscytosolcataract 49Posterior polar cataractearly-onset posterior polar cataractneurodegenerative disease
✦AI Summary

PANK4 (pantothenate kinase 4) is a bifunctional enzyme that, despite its name, lacks traditional pantothenate kinase activity in humans due to evolutionary mutations that inactivated its kinase domain 1. Instead, human PANK4 functions primarily as a phosphatase with specificity for 4'-phosphopantetheine and its oxidatively damaged forms, serving as a protective mechanism in coenzyme A (CoA) biosynthesis 2. The enzyme hydrolyzes excess 4'-phosphopantetheine to prevent oxidative damage and removes damaged forms like sulfonate derivatives that could generate inactive CoA 2. PANK4 plays crucial regulatory roles in cellular metabolism by controlling acetyl-CoA levels in skeletal muscle, where muscle-specific deletion impairs fatty acid oxidation and glucose metabolism 3. In immune responses, PANK4 regulates CD4+ T-cell proliferation through modulation of de novo lipid synthesis and is negatively regulated by CD28-PI3K signaling 4. The enzyme also influences cancer therapy resistance, with elevated expression associated with temozolomide resistance in glioblastoma through modulation of cellular detoxification pathways 5 and contributing to histone acetyltransferase inhibitor resistance by affecting acetyl-CoA levels 6. Clinically, PANK4 mutations are associated with cataract formation 7.

Sources cited
1
Human PANK4 lacks pantothenate kinase activity due to evolutionary mutations in catalytic residues
PMID: 30927326
2
PANK4 functions as a phosphatase specific for 4'-phosphopantetheine and its oxidatively damaged forms
PMID: 27322068
3
PANK4 regulates acetyl-CoA levels and controls fatty acid oxidation and glucose metabolism in skeletal muscle
PMID: 39746949
4
PANK4 regulates CD4+ T-cell proliferation through modulation of de novo lipid synthesis
PMID: 40962808
5
PANK4 expression is associated with temozolomide resistance in glioblastoma
PMID: 38353396
6
PANK4 contributes to histone acetyltransferase inhibitor resistance through acetyl-CoA modulation
PMID: 37127754
7
PANK4 mutations are associated with cataract formation
PMID: 38871981
Disease Associationsβ“˜21
cataract 49Open Targets
0.41Moderate
Posterior polar cataractOpen Targets
0.39Weak
early-onset posterior polar cataractOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
malunion fractureOpen Targets
0.28Weak
inflammatory bowel diseaseOpen Targets
0.15Weak
obesityOpen Targets
0.14Weak
atrial fibrillationOpen Targets
0.10Suggestive
early-onset non-syndromic cataractOpen Targets
0.09Suggestive
Total congenital cataractOpen Targets
0.08Suggestive
Partial congenital cataractOpen Targets
0.08Suggestive
Cataract-microcornea syndromeOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
early-onset nuclear cataractOpen Targets
0.07Suggestive
early-onset zonular cataractOpen Targets
0.07Suggestive
morbid obesityOpen Targets
0.07Suggestive
isolated ectopia lentisOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
pulverulent cataractOpen Targets
0.07Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.07Suggestive
Cataract 49UniProt
Pathogenic Variants1
NM_018216.4(PANK4):c.607-53G>APathogenic
Cataract 49
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
CCDC30Protein interaction86%PPCSProtein interaction72%PPCDCProtein interaction63%PANK1Shared pathway50%COASYShared pathway50%PANK2Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
98%
Liver
88%
Ovary
67%
Brain
52%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
PANK4CCDC30PPCSPPCDCPANK1COASYPANK2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NVE7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.37–0.66]
RankingsWhere PANK4 stands among ~20K protein-coding genes
  • #7,489of 20,598
    Most Researched62
  • #5,037of 5,498
    Most Pathogenic Variants1
  • #4,831of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedPANK4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Coenzyme A biosynthesis: mechanisms of regulation, function and disease.
PMID: 38871981
Nat Metab Β· 2024
1.00
2
Pantothenate kinase 4 controls skeletal muscle substrate metabolism.
PMID: 39746949
Nat Commun Β· 2025
0.90
3
Acetyl-CoA biosynthesis drives resistance to histone acetyltransferase inhibition.
PMID: 37127754
Nat Chem Biol Β· 2023
0.80
4
Pantothenate kinase 4 controls lipid synthesis for T-cell proliferation by modulating coenzyme A and glutaminolysis.
PMID: 40962808
Signal Transduct Target Ther Β· 2025
0.70
5
Kinome-Wide Synthetic Lethal Screen Identifies PANK4 as a Modulator of Temozolomide Resistance in Glioblastoma.
PMID: 38353396
Adv Sci (Weinh) Β· 2024
0.60