Nav1.5

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Sodium channel, voltage-gated, type V, alpha subunit
PDB rendering based on 1byy.
Available structures: 1byy
Identifiers
Symbol(s)	SCN5A; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs	OMIM: 600163 MGI: 98251 HomoloGene: 22738
Gene ontology Molecular Function: • ion channel activity • voltage-gated sodium channel activity • sodium ion binding Cellular Component: • voltage-gated sodium channel complex • membrane fraction • membrane • integral to membrane Biological Process: • ion transport • sodium ion transport • muscle contraction • regulation of heart contraction
Orthologs
	Human	Mouse
Entrez	6331	20271
Ensembl	n/a	ENSMUSG00000032511
Refseq	XM_001131636 (mRNA) XP_001131636 (protein)	NM_021544 (mRNA) NP_067519 (protein)
Location	n/a	Chr 9: 119.33 - 119.43 Mb
Pubmed search	[1]	[2]

The Na_v1.5 sodium ion channel protein is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, and idiopathic ventricular fibrillation.

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.^[1]

Contents 1 See also 2 References 3 Further reading 4 External links

[edit] See also

• Sodium channel

[edit] References

[edit] Further reading

[edit] External links

• MeSH SCN5A+protein,+human

v • d • e Membrane transport protein: ion channels Ca2+: Calcium channel Voltage-dependent calcium channel (L-type/Cavα(1.1, 1.2, 1.3, 1.4), N-type, P-type/Cavα(2.1), Q-type, R-type, T-type, α2δ-subunits (1, 2), β-subunits (β1, β2, β3, β4), γ-subunits (γ1, γ2, γ3, γ4) Inositol triphosphate receptor • Ryanodine receptor • Cation channels of sperm • Two-pore channel Na+: Sodium channel Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.9, 7A) • Navβ (1, 2, 3, 4) • Epithelial sodium channel K+: Potassium channel Voltage-gated (Kvα (1.1, 1.2, 1.3, 1.4, 1.5, 2.1, 3.1, 3.4, 4.1, 4.2, 4.3, 6.1, 7.1, 7.2, 7.3, 7.4, 7.5, 9.3, 10.1, 11.1/hERG) • Kvβ (1, 2), Shaker gene, KCNE1) Calcium-activated (BK channel: α1, β1, β2, β3, β4; SK channel: SK1, SK2, SK3, SK4) Inward-rectifier Kir (1.1, 2.1, 2.2, 2.3, 2.4, GIRK, 3.1, 3.2, 3.3, 3.4, 4.1, 4.2, 5.1, 6.1, 6.2, 7.1) Tandem pore domain K2P (1, 2, 3, 4, 6, 9, 15, 17) Cl-: Chloride channel Cystic fibrosis transmembrane conductance regulator Porin Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) • Voltage-dependent anion channel (1) Cations: TRP TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (Mucolipin-1) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6) Other/general Voltage-gated ion channel • Ligand-gated ion channel • Cyclic nucleotide-gated ion channel (α1, α2, α3, β1, β3, H1, H2, H3, H4) • Stretch-activated ion channel