PANX1 (Pannexin 1) Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the PANX1 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | PANX1 |
|---|---|
| Full Name | Pannexin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.3 |
| NCBI Gene ID | 24145 ncbi.nlm.nih.gov/gene/24145 |
| Ensembl ID | ENSG00000110218 |
| UniProt ID | Q96RD7 |
| OMIM ID | 608420 |
| HGNC ID | 8599 |
| Aliases | MRS1, PX1, FLJ22833 |
Description
The PANX1 gene encodes pannexin 1, a member of the pannexin family of gap junction-like proteins. Pannexin 1 forms large-pore, non-selective channels in the plasma membrane that mediate the release of ATP and other signaling molecules. These channels play crucial roles in various physiological processes, including purinergic signaling, inflammation, and cell death. PANX1 is widely expressed in many tissues and has been implicated in several pathological conditions, including cancer, cardiovascular disease, and female infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oocyte death (MRS1) | Loss-of-function mutations in PANX1 impair the channel's ability to release ATP, which is critical for oocyte development and maturation. This leads to defective oocytes and female infertility. | OMIM: 608420; ClinVar |
| Cancers (e.g., breast, colon, melanoma) | Altered PANX1 expression and channel activity can influence tumor growth, invasion, and metastasis. Both tumor-suppressive and tumor-promoting roles have been reported, depending on the cancer type and context. | COSMIC; PubMed (multiple studies) |
| Cardiovascular diseases (e.g., hypertension, ischemia) | PANX1 channels contribute to vascular tone regulation and inflammatory responses. Dysregulated channel activity can exacerbate tissue damage during ischemia-reperfusion injury. | PubMed (multiple studies) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Heart | 8.1 | Low |
| Liver | 6.5 | Low |
| Kidney | 15.3 | High |
| Testis | 20.1 | High |
| Ovary | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.2 | High expression; used in many PANX1 functional studies. |
| HEK293 (embryonic kidney) | 12.8 | Commonly used for heterologous expression of PANX1. |
| A549 (lung carcinoma) | 9.5 | Moderate expression; relevant for cancer studies. |
| MCF7 (breast cancer) | 7.3 | Lower expression; role in breast cancer is context-dependent. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.650G>A (p.Arg217His) | Missense | Rare | Loss-of-function; associated with oocyte death (MRS1). |
| c.130G>A (p.Gly44Ser) | Missense | Rare | Gain-of-function; increased channel activity, potentially linked to inflammatory conditions. |
| c.412C>T (p.Arg138Trp) | Missense | Rare | Dominant-negative; reduces channel function, implicated in some cancer cell lines. |
| c.873_874del (p.Glu292fs) | Frameshift | Very rare | Loss-of-function; truncates the protein, likely leading to non-functional channels. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish PANX1 channel activity, impairing ATP release and downstream signaling. These are often associated with infertility (MRS1) and may have context-dependent effects in cancer.
Gain of Function (GOF)
Mutations that increase channel opening or conductance, leading to excessive ATP release and exacerbated inflammatory responses. These are less common but have been observed in some pathological contexts.
Dominant Negative (DN)
Mutations that produce a defective protein that interferes with the function of the wild-type protein, often by forming non-functional oligomers. This can reduce overall channel activity in heterozygous individuals.
View complete mutation data：
Gene Ontology (GO)
| • ATP release | • gap junction channel activity |
| • plasma membrane | • cell-cell signaling |
| • inflammatory response | • apoptotic process |
| • calcium ion homeostasis |
Pathways
• Purinergic signaling
• Inflammasome pathway
• Apoptosis
• Calcium signaling
Protein Summary
Pannexin 1 is a four-pass transmembrane protein that oligomerizes to form hexameric channels in the plasma membrane. These channels are permeable to ions and small molecules, most notably ATP. PANX1 channel activity is regulated by various stimuli, including mechanical stress, intracellular calcium, and caspase cleavage during apoptosis. The protein plays a key role in paracrine and autocrine signaling, particularly in the immune and nervous systems. Its function is essential for normal physiological processes, and dysregulation is linked to several diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANX1 Knockout HEK293 Cell Line | EDJ-KQ8145 | Human | 24145 | Details Get a Quote |
| PANX1 Knockout A-549 Cell Line | EDJ-KQ34045 | Human | 24145 | Details Get a Quote |
| PANX1 Knockout HCT 116 Cell Line | EDJ-KQ34046 | Human | 24145 | Details Get a Quote |
| PANX1 Knockout HeLa Cell Line | EDJ-KQ34047 | Human | 24145 | Details Get a Quote |
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