PANK1 (Pantothenate Kinase 1): Coenzyme A Biosynthesis, Metabolic Regulation, and Disease Associations
A comprehensive biomedical overview of the PANK1 gene, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | PANK1 |
|---|---|
| Full Name | Pantothenate kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 53354 ncbi.nlm.nih.gov/gene/53354 |
| Ensembl ID | ENSG00000152795 |
| UniProt ID | Q8TE04 |
| OMIM ID | 606160 |
| HGNC ID | 8599 |
| Aliases | Pantothenate kinase 1; hPanK1; PANK1a; PANK1b |
Description
PANK1 encodes pantothenate kinase 1, the first and rate-limiting enzyme in the universal Coenzyme A (CoA) biosynthesis pathway. It catalyzes the phosphorylation of pantothenate (vitamin B5) to 4'-phosphopantothenate. PANK1 is expressed in multiple tissues, with highest levels in the liver and kidney, and plays a critical role in cellular metabolism, fatty acid oxidation, and energy homeostasis. Mutations in PANK1 have been linked to metabolic disorders and neurodegeneration, though the gene is less commonly mutated than PANK2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pantothenate kinase-associated neurodegeneration (PKAN) | Loss-of-function mutations in PANK1 may impair CoA biosynthesis, leading to iron accumulation in the brain and neurodegeneration, though PKAN is primarily associated with PANK2 mutations. | ClinVar: rare variants reported; OMIM: 606160 |
| Metabolic syndrome / insulin resistance | Reduced PANK1 expression or activity may disrupt CoA homeostasis, affecting lipid metabolism and insulin signaling. | PubMed: studies in animal models; not yet clinically confirmed |
| Hepatocellular carcinoma | Altered PANK1 expression may influence CoA levels and lipid metabolism, potentially affecting tumor progression. | COSMIC: somatic mutations observed in cancer samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 7.8 | Medium |
| Skeletal Muscle | 6.5 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.0 | High expression |
| A549 (lung) | 8.2 | Moderate |
| MCF7 (breast) | 5.1 | Low |
| K562 (leukemia) | 3.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Trp) | Missense | 0.01% (gnomAD) | Reduced enzyme activity in vitro |
| c.1582G>A (p.Asp528Asn) | Missense | 0.005% | Potential loss of function |
| c.1234delA (frameshift) | Frameshift | Rare | Predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Most PANK1 mutations are loss-of-function, reducing pantothenate kinase activity and CoA production.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PANK1.
Dominant Negative (DN)
No evidence for dominant-negative effects; PANK1 is likely haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • pantothenate kinase activity | • ATP binding |
| • CoA biosynthesis | • phosphorylation |
| • response to nutrient levels |
Pathways
• Pantothenate and CoA biosynthesis (KEGG: hsa00770)
• Metabolic pathways (KEGG: hsa01100)
• Fatty acid beta-oxidation (Reactome: R-HSA-77289)
Protein Summary
The PANK1 protein is a 50 kDa enzyme localized in the cytosol and mitochondria. It exists in two isoforms (PANK1a and PANK1b) due to alternative splicing. The enzyme is feedback-inhibited by CoA and acetyl-CoA, and its activity is regulated by phosphorylation. PANK1 is essential for maintaining cellular CoA pools, which are critical for fatty acid metabolism, the TCA cycle, and neurotransmitter synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANK1 Knockout HEK293 Cell Line | EDJ-KQ11337 | Human | 53354 | Details Get a Quote |
| PANK1 Knockout A-549 Cell Line | EDJ-KQ39498 | Human | 53354 | Details Get a Quote |
| PANK1 Knockout HCT 116 Cell Line | EDJ-KQ39499 | Human | 53354 | Details Get a Quote |
| PANK1 Knockout HeLa Cell Line | EDJ-KQ39500 | Human | 53354 | Details Get a Quote |
| GPANK1 Knockout HEK293 Cell Line | EDJ-KQ50730 | Human | 7918 | Details Get a Quote |
| GPANK1 Knockout HeLa Cell Line | EDJ-KQ54805 | Human | 7918 | Details Get a Quote |
| GPANK1 Knockout A-549 Cell Line | EDJ-KQ63295 | Human | 7918 | Details Get a Quote |
| GPANK1 Knockout HCT 116 Cell Line | EDJ-KQ71764 | Human | 7918 | Details Get a Quote |
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