1. Gene
  2. Scn5a - sodium channel, voltage-gated, type V, alpha Gene

Scn5a - sodium channel, voltage-gated, type V, alpha Gene

Mus musculus

Also known as mH1; SkM1; SkM2; Nav1.5; Nav1.5c

Gene ID: 20271 | Gene type: protein coding

About Scn5a

Chromosome 9: 119,312,474-119,408,082 reverse strand.GRCm39:CM001002.3

This gene has 4 transcripts (splice variants), 94 orthologues, 26 paralogues and is associated with 56 phenotypes. Biased expression in heart adult (RPKM 37.1) and lung adult (RPKM 3.7).

Summary

Enables scaffold protein binding activity and voltage-gated Sodium Channel activity involved in SA node cell action potential. Acts upstream of or within several processes, including cardiac muscle cell action potential involved in contraction; regulation of heart contraction; and sodium ion import across plasma membrane. Located in several cellular components, including T-tubule; intercalated disc; and lateral plasma membrane. Part of Sodium Channel complex. Is expressed in several structures, including cranial ganglion; epidermis; heart; sensory organ; and skeleton. Used to study Brugada syndrome 1; dilated cardiomyopathy 1E; long QT syndrome 3; progressive familial heart block type IA; and sick sinus syndrome. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Orthologous to human SCN5A (sodium voltage-gated channel alpha subunit 5). [provided by Alliance of Genome Resources, Apr 2022]

Scn5a Products(2)

mRNA Protein Name
NM_001253860.1 NP_001240789.1 sodium channel protein type 5 subunit alpha isoform 2
NM_021544.4 NP_067519.2 sodium channel protein type 5 subunit alpha isoform 1

Scn5a Protein Structure

Ion_trans

Ion_trans: pfam00520 (129 - 422)

Na_trans_cytopl

Na_trans_cytopl: pfam11933 (508 - 666)

Ion_trans

Ion_trans: pfam00520 (715 - 928)

Na_trans_assoc

Na_trans_assoc: pfam06512 (954 - 1202)

Ion_trans

Ion_trans: pfam00520 (1206 - 1481)

Na_channel_gate

Na_channel_gate: cd13433 (1473 - 1525)

Ion_trans

Ion_trans: pfam00520 (1530 - 1784)

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  • 2020 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 5 subunit alpha

sodium channel protein cardiac muscle subunit alpha

sodium channel protein type V subunit alpha

sodium channel, voltage-gated, type V, alpha polypeptide

voltage-gated sodium channel subunit alpha Nav1.5

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn5a NCBI NCBI:6331