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

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)

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  • 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 (5)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-148410 Zorevunersen Activator / Unkown
HY-148410A Zorevunersen sodium Inhibitor / Unkown
HY-RS12525 SCN1A Human Pre-designed siRNA Set A / Unkown
HY-RS12526 Scn1a Mouse Pre-designed siRNA Set A / Unkown
HY-RS12527 SCN1A Rat Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn1a NCBI NCBI:6323