ASIC1: Acid Sensing Ion Channel 1
Key mediator of proton-gated ion currents in the nervous system and beyond
Gene Information Card
| Symbol | ASIC1 |
|---|---|
| Full Name | Acid Sensing Ion Channel 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 41 ncbi.nlm.nih.gov/gene/41 |
| Ensembl ID | ENSG00000110881 |
| UniProt ID | P78348 |
| OMIM ID | 602866 |
| HGNC ID | 746 |
| Aliases | ASIC, ASIC1a, BNaC2, ACCN2 |
Description
ASIC1 encodes a member of the acid-sensing ion channel (ASIC) family, which are proton-gated sodium channels. The protein is predominantly expressed in neurons of the central and peripheral nervous system and plays critical roles in synaptic plasticity, pain perception, and neuronal injury during acidosis. ASIC1 forms homomeric or heteromeric channels that are activated by extracellular acidification, leading to rapid depolarization and calcium influx.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ischemic stroke | ASIC1 activation during acidosis mediates calcium overload and neuronal death | PMID: 15186718 |
| Epilepsy | Altered ASIC1 expression contributes to seizure susceptibility and neuronal hyperexcitability | PMID: 19036987 |
| Chronic pain | ASIC1 in dorsal root ganglia mediates acid-induced pain signaling | PMID: 11753428 |
| Multiple sclerosis | ASIC1 contributes to axonal degeneration in inflammatory demyelination | PMID: 18425129 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Spinal cord | 8.7 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.5 | Low |
| Testis | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.4 | Neuronal cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK293 | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Reduced channel activity |
| c.430G>A (p.Gly144Ser) | Missense | <0.01% | Altered pH sensitivity |
| c.1121T>C (p.Leu374Pro) | Missense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
p.Leu374Pro reduces proton-gated current amplitude
Gain of Function (GOF)
Not reported in ASIC1
Dominant Negative (DN)
p.Gly144Ser may exert dominant-negative effects on heteromeric channels
View complete mutation data：
Gene Ontology (GO)
| • cation channel activity (GO:0005262) | • acid-sensing ion channel activity (GO:0015271) |
| • sodium ion transport (GO:0006814) | • response to stimulus (GO:0050896) |
| • plasma membrane (GO:0005886) |
Pathways
• Acid-sensing ion channel (ASIC) pathway
• Ion transport by P-type ATPases
• Neuronal system
Protein Summary
ASIC1 is a 528-amino acid transmembrane protein that forms proton-gated sodium channels. It contains two transmembrane domains, a large extracellular loop with multiple cysteine residues, and intracellular N- and C-termini. The channel is activated by extracellular pH drops below 7.0, leading to rapid sodium influx and membrane depolarization. ASIC1a splice variant is the predominant form in the brain and is permeable to calcium, contributing to excitotoxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASIC1 Knockout HEK293 Cell Line | EDJ-KQ3259 | Human | 41 | Details Get a Quote |
| ASIC1 Knockout A-549 Cell Line | EDJ-KQ24804 | Human | 41 | Details Get a Quote |
| ASIC1 Knockout HCT 116 Cell Line | EDJ-KQ24805 | Human | 41 | Details Get a Quote |
| ASIC1 Knockout HeLa Cell Line | EDJ-KQ24806 | Human | 41 | Details Get a Quote |
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