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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15272007 MGI
enables scaffold protein binding IPI
IPI: Inferred from physical interaction
18591664 MGI
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
32175648 MGI
enables voltage-gated sodium channel activity IDA
IDA: Inferred from direct assay
32175648 MGI
enables voltage-gated sodium channel activity involved in SA node cell action potential IMP
IMP: Inferred from mutant phenotype
15932895 MGI
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
11972032 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cardiac ventricle development IMP
IMP: Inferred from mutant phenotype
11972032 MGI
acts upstream of or within regulation of cardiac muscle cell contraction IMP
IMP: Inferred from mutant phenotype
16172272 MGI
acts upstream of or within regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
11972032 MGI
acts upstream of or within response to organic cyclic compound IMP
IMP: Inferred from mutant phenotype
19745168 MGI
involved in sodium ion transmembrane transport IDA
IDA: Inferred from direct assay
32175648 MGI
involved in sodium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
24719102 MGI
Cellular Component GO Annotation Evidence Reference Source
located in T-tubule IDA
IDA: Inferred from direct assay
15746173 MGI
located in cell surface IDA
IDA: Inferred from direct assay
17884088 MGI
located in intercalated disc IDA
IDA: Inferred from direct assay
15272007 MGI
located in lateral plasma membrane IDA
IDA: Inferred from direct assay
21817159 MGI
is active in plasma membrane IDA
IDA: Inferred from direct assay
32175648 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
15746173 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

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)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 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

Scn5a Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
Scn5a Q9JJV9 Xirp2 Mus musculus Q4U4S6 29306897
Cross: Cross-species interaction Intra: Intraspecies interaction

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn5a NCBI NCBI:6331