PANK3: Pantothenate Kinase 3
A key regulator of coenzyme A biosynthesis and cellular metabolism
Gene Information Card
| Symbol | PANK3 |
|---|---|
| Full Name | Pantothenate Kinase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q34 |
| NCBI Gene ID | 79646 ncbi.nlm.nih.gov/gene/79646 |
| Ensembl ID | ENSG00000120182 |
| UniProt ID | Q9H999 |
| OMIM ID | 611656 |
| HGNC ID | 15668 |
| Aliases | Pantothenate kinase 3, hPanK3 |
Description
PANK3 encodes pantothenate kinase 3, an enzyme that catalyzes the first and rate-limiting step in coenzyme A (CoA) biosynthesis: the phosphorylation of pantothenate (vitamin B5) to 4'-phosphopantothenate. This gene is ubiquitously expressed and plays a critical role in cellular metabolism, fatty acid oxidation, and energy production. Mutations in PANK3 have been associated with metabolic disorders and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Impaired CoA synthesis leads to mitochondrial dysfunction and iron accumulation | ClinVar; OMIM |
| Pantothenate kinase-associated neurodegeneration (PKAN) | Loss-of-function mutations reduce CoA levels, causing neuronal death | ClinVar; OMIM |
| Metabolic syndrome | Altered PANK3 expression may disrupt lipid metabolism | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Kidney | 6.9 | Medium |
| Skeletal muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| MCF7 | 4.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.158C>T (p.Thr53Met) | Missense | 0.001% | Reduced enzyme activity; ClinVar |
| c.421G>A (p.Gly141Arg) | Missense | 0.0005% | Loss of function; ClinVar |
| c.682_683del (p.Leu228fs) | Frameshift | <0.0001% | Truncated protein; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish pantothenate kinase activity, impairing CoA synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • pantothenate kinase activity (GO:0004594) | • coenzyme A biosynthetic process (GO:0015937) |
| • ATP binding (GO:0005524) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Pantothenate and CoA biosynthesis (KEGG: hsa00770)
• Metabolic pathways (KEGG: hsa01100)
• Coenzyme A biosynthesis (Reactome: R-HSA-196783)
Protein Summary
Pantothenate kinase 3 is a 370-amino acid protein belonging to the pantothenate kinase family. It is localized in the cytoplasm and cytosol, where it phosphorylates pantothenate using ATP. The enzyme is essential for maintaining cellular CoA levels, which are critical for fatty acid metabolism, the tricarboxylic acid cycle, and acetylation reactions. PANK3 is widely expressed, with highest levels in liver and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANK3 Knockout HEK293 Cell Line | EDJ-KQ51688 | Human | 79646 | Details Get a Quote |
| PANK3 Knockout HeLa Cell Line | EDJ-KQ57198 | Human | 79646 | Details Get a Quote |
| PANK3 Knockout A-549 Cell Line | EDJ-KQ65710 | Human | 79646 | Details Get a Quote |
| PANK3 Knockout HCT 116 Cell Line | EDJ-KQ74130 | Human | 79646 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
