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

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

Species: Mus musculus

Gene Type: protein coding

Gene ID: 20271

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	References	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	References	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	References	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

Na_trans_cytopl

Ion_trans

Na_trans_assoc

Ion_trans

Na_channel_gate

Ion_trans

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	References
Intra	Scn5a	Q9JJV9	Xirp2	Mus musculus	Q4U4S6	Anti Bait CoIP	29306897

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0405	Bupivacaine	Inhibitor	99.95%	Yes
HY-B0405A	Bupivacaine hydrochloride	Inhibitor	99.85%	Yes
HY-B0405AR	Bupivacaine hydrochloride (Standard)	Inhibitor	99.99%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-W415121	Bupivacaine hydrochloride monohydrate	Inhibitor	/	Phase 4

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0405S	Bupivacaine-d9		99.04%	Unkown
HY-RS12541	SCN5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W045132	N-Desbutyl Bupivacaine		/	Unkown
HY-RS12542	Scn5a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12543	Scn5a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W045132S	N-Desbutyl bupivacaine-d6		/	Unkown
HY-W702016	Bupivacaine-d9 hydrochloride		/	Unkown
HY-W585873	Bupivacaine N-oxide hydrochloride		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Scn5a	NCBI	NCBI:6331