Scn1a Gene Summary [Mouse]
Enables voltage-gated sodium channel activity. Involved in detection of mechanical stimulus involved in sensory perception of pain and membrane depolarization during action potential. Acts upstream of or within several processes, including adult walking behavior; determination of adult lifespan; and neuronal action potential. Located in several cellular components, including T-tubule; Z disc; and main axon. Part of sodium channel complex. Is expressed in several structures, including heart and nervous system. Used to study Dravet syndrome; autism spectrum disorder; and generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy 6B; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to human SCN1A (sodium voltage-gated channel alpha subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Scn1a |
| Official Name | sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246] |
| Ensembl ID | ENSMUSG00000064329 |
| Bio databases IDs | |
| Aliases | sodium channel, voltage-gated, type I, alpha |
| Synonyms | B230332M13, DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, LOC102553713, NAC1, Nav1.1, SCN1, SMEI, sodium channel, voltage-gated, type I, alpha, sodium channel, voltage-gated, type I, α, Sodium channel α-1 subunit, sodium voltage-gated channel alpha subunit 1, sodium voltage-gated channel α subunit 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Scn1a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sodium ion transport-associated
- Voltage-dependent L-type calcium channel, IQ-associated
- voltage-gated sodium channel
- Cytoplasmic domain of voltage-gated Na+ ion channel
- Ion transport protein
- metal ion binding
- pore domain
- voltage-gated ion channel
- ion channel
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the Scn1a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetic nephropathy
- infection
- hypertension
- cancer
- pain
- constipation
- Huntington disease
- postoperative pain
- localization-related epilepsy
phenotypes
- abnormal GABA-mediated receptor currents
- abnormal RR interval
- abnormal action potential
- abnormal brain wave pattern
- abnormal cardiovascular system physiology
- abnormal dendrite morphology
- abnormal dendritic spine morphology
- abnormal gait
- abnormal habituation to a novel odor
- abnormal heart electrocardiography waveform feature
- abnormal hippocampus granule cell morphology
- abnormal involuntary movement
- abnormal long term spatial reference memory
- abnormal miniature excitatory postsynaptic currents
- abnormal miniature inhibitory postsynaptic currents
- abnormal myocardial fiber physiology
- abnormal nervous system electrophysiology
- abnormal nest building behavior
- abnormal olfactory behavior
- abnormal postural reflex
- abnormal posture
- abnormal response to novel odor
- abnormal response to social novelty
- abnormal social investigation
- abnormal spike wave discharge
- abnormal synaptic transmission
- akinesia
- apnea
- ataxia
- bundle branch block
- circling
- clonic seizures
- convulsive seizures
- decreased body weight
- decreased brain size
- decreased brain weight
- decreased heart rate
- environmentally induced seizures
- head bobbing
- hyperactivity
- impaired ability to fire action potentials
- impaired contextual conditioning behavior
- impaired righting response
- impaired spatial learning
- increased anxiety-related response
- increased grooming behavior
- increased sensitivity to induced morbidity/mortality
- increased susceptibility to pharmacologically induced seizures
- increased thigmotaxis
- irregular heartbeat
- jerky movement
- maximal tonic hindlimb extension seizures
- no abnormal phenotype detected
- postnatal lethality complete penetrance
- premature death
- prolonged QT interval
- reduced fertility
- seizures
- tonic seizures
- tonic-clonic seizures
- tremors
- ventricular fibrillation
- ventricular premature beat
- weight loss
role in cell
- transmembrane potential
- action potential
- abnormal morphology
- neurotransmission in
- neurotransmission
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-soluble membrane fractions
- membrane fraction
- axon component
- axon initial segment like process
- outer membranes
- cellular membrane
- intercellular junctions
- presynaptic membrane
- nucleoplasm
- nuclear bodies
- nodes of Ranvier
- synaptic vesicles
- axon initial segments
- Z line
- transverse tubules
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Scn1a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- determination of adult lifespan
- nerve development
- neuromuscular process controlling posture
- adult walking behavior
- sodium ion transport
- sodium ion transmembrane transport
- detection of mechanical stimulus involved in sensory perception of pain
- establishment of localization in cell
- neuronal action potential propagation
- membrane depolarization involved in regulation of action potential
- regulation of action potential in neuron
Cellular Component
Where in the cell the gene product is active
- Z disc
- T-tubule
- initial segment
- nuclear body
- voltage-gated sodium channel complex
- node of Ranvier
- intercalated disc
- neuronal cell body
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- voltage-gated sodium channel activity