Sodium voltage-gated channel alpha subunit 5 (Q3459294)

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mammalian protein found in Homo sapiens
  • sodium channel protein cardiac muscle subunit alpha
  • cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit
  • SCN5A
  • voltage-gated sodium channel subunit alpha Nav1.5
  • HH1
  • sodium channel protein type 5 subunit alpha
  • Sodium channel protein type V subunit alpha
  • sodium channel, voltage-gated, type V, alpha subunit
edit
Language Label Description Also known as
English
Sodium voltage-gated channel alpha subunit 5
mammalian protein found in Homo sapiens
  • sodium channel protein cardiac muscle subunit alpha
  • cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit
  • SCN5A
  • voltage-gated sodium channel subunit alpha Nav1.5
  • HH1
  • sodium channel protein type 5 subunit alpha
  • Sodium channel protein type V subunit alpha
  • sodium channel, voltage-gated, type V, alpha subunit

Statements

molecular function
protein binding
determination method or standard
IPI
9 references
retrieved
8 April 2019
stated in
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Cardiac sodium channel Na(v)1.5 interacts with and is regulated by the protein tyrosine phosphatase PTPH1
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and Calmodulin
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
retrieved
8 April 2019
stated in
Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IPI
voltage-gated sodium channel activity
determination method or standard
IEA
IDA
IMP
10 references
retrieved
5 June 2018
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
GOA
curator
InterPro
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
5 June 2018
stated in
Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
voltage-gated sodium channel activity
determination method or standard
IBA
IDA
IEA
IMP
11 references
retrieved
8 April 2019
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
GOA
curator
InterPro
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
8 April 2019
stated in
Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
GOA
curator
GO Central
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IBA
cell component
voltage-gated sodium channel complex
determination method or standard
IC
IDA
IEA
5 references
retrieved
5 June 2018
stated in
GOA
curator
InterPro
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
5 June 2018
stated in
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IC
plasma membrane
determination method or standard
IEA
IDA
IMP
TAS
7 references
retrieved
5 June 2018
stated in
GOA
curator
Reactome
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
TAS
retrieved
5 June 2018
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
5 June 2018
stated in
14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
voltage-gated sodium channel complex
determination method or standard
IBA
IC
IDA
IEA
6 references
retrieved
8 April 2019
stated in
GOA
curator
InterPro
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
8 April 2019
stated in
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IC
retrieved
8 April 2019
stated in
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
GOA
curator
GO Central
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IBA
plasma membrane
determination method or standard
IBA
IDA
IEA
IMP
TAS
8 references
retrieved
8 April 2019
stated in
GOA
curator
Reactome
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
TAS
retrieved
8 April 2019
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IEA
retrieved
8 April 2019
stated in
14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
GOA
curator
GO Central
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IBA
biological process
sodium ion transmembrane transport
determination method or standard
IDA
IMP
7 references
retrieved
5 June 2018
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
5 June 2018
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IDA
regulation of heart rate
determination method or standard
IMP
8 references
retrieved
5 June 2018
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Cardiac conduction defects associate with mutations in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
5 June 2018
stated in
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?protein=Q14524&geneProductId=UniProtKB:Q14524
determination method or standard
IMP
regulation of heart rate
determination method or standard
IBA
IMP
9 references
retrieved
8 April 2019
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Cardiac conduction defects associate with mutations in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
GOA
curator
GO Central
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IBA
sodium ion transmembrane transport
determination method or standard
IBA
IDA
IMP
8 references
retrieved
8 April 2019
stated in
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IMP
retrieved
8 April 2019
stated in
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction
GOA
curator
UniProt
UniProt protein ID
Q14524
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
GOA
curator
British Heart Foundation
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IDA
retrieved
8 April 2019
stated in
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
GOA
curator
GO Central
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q14524
determination method or standard
IBA
physically interacts with

Identifiers

 
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                    Retrieved from "https://www.wikidata.org/w/index.php?title=Q3459294&oldid=2247491802"