PANK4: Pantothenate Kinase 4
A mitochondrial enzyme involved in coenzyme A biosynthesis and cellular metabolism
Gene Information Card
| Symbol | PANK4 |
|---|---|
| Full Name | Pantothenate Kinase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 55229 ncbi.nlm.nih.gov/gene/55229 |
| Ensembl ID | ENSG00000142627 |
| UniProt ID | Q9NVE7 |
| OMIM ID | 606162 |
| HGNC ID | 19366 |
| Aliases | DKFZp686D10105, FLJ10782, MGC138290 |
Description
PANK4 encodes pantothenate kinase 4, a member of the pantothenate kinase family that catalyzes the first committed step in coenzyme A (CoA) biosynthesis: the phosphorylation of pantothenate (vitamin B5) to 4'-phosphopantothenate. The protein localizes to mitochondria and is involved in cellular metabolism, particularly in the regulation of CoA levels. PANK4 is expressed in various tissues and has been implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | PANK4 mutations may disrupt CoA synthesis, leading to mitochondrial dysfunction and iron accumulation. | ClinVar; OMIM |
| Pantothenate kinase-associated neurodegeneration (PKAN) | Loss-of-function variants in PANK4 are associated with PKAN, a subtype of NBIA. | ClinVar; OMIM |
| Cancer (various types) | Altered PANK4 expression affects CoA-dependent metabolic pathways, potentially influencing tumor growth. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.7 | Medium |
| Brain | 6.3 | Low |
| Skeletal Muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| SH-SY5Y | 5.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Loss of function; premature stop codon |
| c.456_457del (p.Glu153fs) | Frameshift | <0.01% | Loss of function; altered reading frame |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or non-functional PANK4 protein, impairing CoA biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported in PANK4.
Dominant Negative (DN)
No dominant-negative mutations reported in PANK4.
View complete mutation data：
Gene Ontology (GO)
| • pantothenate kinase activity (GO:0004594) | • coenzyme A biosynthetic process (GO:0015937) |
| • mitochondrion (GO:0005739) | • ATP binding (GO:0005524) |
| • phosphorylation (GO:0016310) |
Pathways
• Pantothenate and CoA biosynthesis (KEGG: hsa00770)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PANK4 is a 771-amino acid mitochondrial pantothenate kinase that phosphorylates pantothenate to initiate CoA synthesis. It contains a conserved kinase domain and a mitochondrial targeting sequence. The protein is essential for maintaining cellular CoA pools, which are critical for fatty acid oxidation, the tricarboxylic acid cycle, and other metabolic processes. Mutations in PANK4 lead to reduced CoA levels and are associated with neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANK4 Knockout HEK293 Cell Line | EDJ-KQ12216 | Human | 55229 | Details Get a Quote |
| PANK4 Knockout A-549 Cell Line | EDJ-KQ40959 | Human | 55229 | Details Get a Quote |
| PANK4 Knockout HeLa Cell Line | EDJ-KQ40961 | Human | 55229 | Details Get a Quote |
| PANK4 Knockout HCT 116 Cell Line | EDJ-KQ39724 | Human | 55229 | Details Get a Quote |
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