2. Gene
  3. Scn1a - sodium channel, voltage-gated, type I, alpha Gene

Scn1a - sodium channel, voltage-gated, type I, alpha Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Nav1.1; B230332M13

Gene ID: 20265 | Gene type: protein coding

About Scn1a

Chromosome 2: 66,101,122-66,271,184 reverse strand.GRCm39:CM000995.3

This gene has 8 transcripts (splice variants), 140 orthologues, 26 paralogues and is associated with 64 phenotypes. Biased expression in cerebellum adult (RPKM 2.4), cortex adult (RPKM 13.) and 4 other tissues.

Summary

Enables voltage-gated Sodium Channel activity. Involved in detection of mechanical stimulus involved in sensory perception of pain and sodium ion transport. Acts upstream of or within several processes, including adult walking behavior; neuronal action potential; and neuronal action potential propagation. Located in several cellular components, including T-tubule; Z disc; and main axon. Part of Sodium Channel complex. Is expressed in brain; heart; sciatic nerve; sympathetic ganglion; and telencephalon. 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; 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, Apr 2022]

Scn1a Products(2)

mRNA Protein Name
NM_018733.2 NP_061203.2 sodium channel protein type 1 subunit alpha isoform 2
NM_001313997.1 NP_001300926.1 sodium channel protein type 1 subunit alpha isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables voltage-gated sodium channel activity IDA
IDA: Inferred from direct assay
27281198 MGI
enables voltage-gated sodium channel activity IMP
IMP: Inferred from mutant phenotype
16921370 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within adult walking behavior IMP
IMP: Inferred from mutant phenotype
17537961 MGI
involved in detection of mechanical stimulus involved in sensory perception of pain IDA
IDA: Inferred from direct assay
27281198 MGI
acts upstream of or within determination of adult lifespan IGI
IGI: Inferred from genetic interaction
21156207 MGI
acts upstream of or within determination of adult lifespan IMP
IMP: Inferred from mutant phenotype
21156207 MGI
acts upstream of or within establishment of localization in cell IMP
IMP: Inferred from mutant phenotype
16921370 MGI
involved in membrane depolarization during action potential IDA
IDA: Inferred from direct assay
27281198 MGI
acts upstream of or within nerve development IGI
IGI: Inferred from genetic interaction
21156207 MGI
acts upstream of or within nerve development IMP
IMP: Inferred from mutant phenotype
21156207 MGI
acts upstream of or within neuromuscular process controlling posture IMP
IMP: Inferred from mutant phenotype
16921370 MGI
acts upstream of or within neuronal action potential IMP
IMP: Inferred from mutant phenotype
16921370 MGI
acts upstream of or within neuronal action potential propagation IMP
IMP: Inferred from mutant phenotype
17322896 MGI
acts upstream of or within regulation of membrane potential IMP
IMP: Inferred from mutant phenotype
17928448 MGI
acts upstream of or within sodium ion transport IMP
IMP: Inferred from mutant phenotype
16921370 MGI
Cellular Component GO Annotation Evidence Reference Source
located in T-tubule IDA
IDA: Inferred from direct assay
15746173 MGI
located in Z disc IDA
IDA: Inferred from direct assay
17884088 MGI
located in axon IDA
IDA: Inferred from direct assay
17537961 MGI
located in axon initial segment IDA
IDA: Inferred from direct assay
17537961 MGI
located in intercalated disc IDA
IDA: Inferred from direct assay
15746173 MGI
located in membrane IDA
IDA: Inferred from direct assay
10827969 MGI
located in neuronal cell body IDA
IDA: Inferred from direct assay
17537961 MGI
located in node of Ranvier IDA
IDA: Inferred from direct assay
17537961 MGI
part of sodium channel complex IPI
IPI: Inferred from physical interaction
15272007 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Scn1a Protein Structure

Ion_trans

Ion_trans: pfam00520 (126 - 432)

Na_trans_cytopl

Na_trans_cytopl: pfam11933 (554 - 717)

Ion_trans

Ion_trans: pfam00520 (766 - 979)

Na_trans_assoc

Na_trans_assoc: pfam06512 (1005 - 1212)

Ion_trans

Ion_trans: pfam00520 (1216 - 1491)

Na_channel_gate

Na_channel_gate: cd13433 (1483 - 1535)

Ion_trans

Ion_trans: pfam00520 (1539 - 1795)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2009 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 1 subunit alpha

sodium channel protein brain I subunit alpha

sodium channel protein type I subunit alpha

voltage-gated sodium channel subunit alpha Nav1.1

Related Agents

Pre-clinical Phase
Bioactive Molecules (7)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-148410A Zorevunersen sodium Inhibitor 98.25% Unkown
HY-148410 Zorevunersen Activator / Unkown
HY-148410C Zorevunensen negative control Activator / Unkown
HY-RS12525 SCN1A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS12526 Scn1a Mouse Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS12527 SCN1A Rat Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-125928 AA43279 Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn1a NCBI NCBI:6323