HUMAN:SCN5A

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	SCN5A
Protein Name(s)	Sodium channel protein type 5 subunit alpha HH1 Sodium channel protein cardiac muscle subunit alpha Sodium channel protein type V subunit alpha Voltage-gated sodium channel subunit alpha Nav1.5
External Links
UniProt	Q14524
EMBL	M77235 AY038064 AY148488 AF482988 AB158469 AB158470 EF629346 EF629347 DQ784809 EF179185 AP006241 BC140813 BC144621 AB208866
CCDS	CCDS46796.1 CCDS46797.1 CCDS46798.1 CCDS46799.1 CCDS54569.1 CCDS54570.1
PIR	A38195
RefSeq	NP_000326.2 NP_001092874.1 NP_001092875.1 NP_001153632.1 NP_001153633.1 NP_932173.1 XP_006713345.1 XP_006713346.1
UniGene	Hs.517898
PDB	2KBI 2L53 4DCK 4DJC 4JQ0
PDBsum	2KBI 2L53 4DCK 4DJC 4JQ0
ProteinModelPortal	Q14524
SMR	Q14524
BioGrid	112236
DIP	DIP-38416N DIP-46144N
IntAct	Q14524
MINT	MINT-249922
BindingDB	Q14524
ChEMBL	CHEMBL2331043
DrugBank	DB01426 DB01429 DB00868 DB00564 DB00527 DB00907 DB00280 DB01228 DB00754 DB01195 DB01320 DB00473 DB00192 DB00281 DB00379 DB00680 DB00776 DB00252 DB00750 DB01035 DB01182 DB00908 DB01346 DB00243 DB00740 DB01056 DB00313 DB00661 DB00909
GuidetoPHARMACOLOGY	582
TCDB	1.A.1.10.3
PhosphoSite	Q14524
DMDM	215273881
PaxDb	Q14524
PRIDE	Q14524
Ensembl	ENST00000333535 ENST00000423572 ENST00000443581
GeneID	6331
KEGG	hsa:6331
UCSC	uc021wvn.1 uc021wvo.1
CTD	6331
GeneCards	GC03M038589
GeneReviews	SCN5A
HGNC	HGNC:10593
MIM	108770 113900 272120 600163 601144 601154 603829 603830 608567 614022
neXtProt	NX_Q14524
Orphanet	1344 130 334 154 871 166282 228140 101016
PharmGKB	PA304
eggNOG	COG1226
GeneTree	ENSGT00760000118827
HOVERGEN	HBG053100
InParanoid	Q14524
KO	K04838
OrthoDB	EOG7DJSK9
PhylomeDB	Q14524
Reactome	REACT_22266
EvolutionaryTrace	Q14524
GeneWiki	Nav1.5
GenomeRNAi	6331
NextBio	24578
PRO	PR:Q14524
Proteomes	UP000005640
Bgee	Q14524
CleanEx	HS_SCN5A
ExpressionAtlas	Q14524
Genevestigator	Q14524
GO	GO:0005901 GO:0009986 GO:0005783 GO:0016021 GO:0014704 GO:0016328 GO:0005886 GO:0042383 GO:0030315 GO:0001518 GO:0030506 GO:0005516 GO:0019899 GO:0017134 GO:0044325 GO:0050998 GO:0019901 GO:0097110 GO:0031625 GO:0005248 GO:0086006 GO:0086067 GO:0003360 GO:0086069 GO:0086002 GO:0060048 GO:0003231 GO:0071277 GO:0021549 GO:0051899 GO:0086010 GO:0086012 GO:0086046 GO:0019228 GO:0042475 GO:0045760 GO:0050679 GO:0010765 GO:0060371 GO:0060372 GO:0086004 GO:0002027 GO:0086091 GO:1902305 GO:0060373 GO:0060307 GO:0014894 GO:0086070 GO:0035725 GO:0006814 GO:0021537 GO:0086005
Gene3D	1.20.120.350
InterPro	IPR027359 IPR024583 IPR005821 IPR000048 IPR008053 IPR001696 IPR010526
PANTHER	PTHR10037:SF178
Pfam	PF11933 PF00520 PF06512
PRINTS	PR00170 PR01666
SMART	SM00015

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:23085483^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:23085483^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:23085483^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:23085483^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	PMID:21167176^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P0DP25	F		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	PMID:21167176^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P0DP24	F		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:26392562^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:26392562^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:26392562^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:26279430^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:26279430^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:26279430^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:26279430^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0098912	membrane depolarization during atrial cardiac muscle cell action potential	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0019904	protein domain specific binding	PMID:19943616^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P35609	F		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:19943616^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:19943616^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:19943616^[6]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000746)	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:19943616^[6]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000746)	Seeded From UniProt	complete
enables	GO:0044325	ion channel binding	PMID:24998131^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9Y5Y9	F		Seeded From UniProt	complete
enables	GO:0086063	voltage-gated sodium channel activity involved in SA node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086046	membrane depolarization during SA node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0086062	voltage-gated sodium channel activity involved in Purkinje myocyte action potential	PMID:22766342^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086047	membrane depolarization during Purkinje myocyte cell action potential	PMID:22766342^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0086061	voltage-gated sodium channel activity involved in bundle of His cell action potential	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086048	membrane depolarization during bundle of His cell action potential	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0086060	voltage-gated sodium channel activity involved in AV node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086045	membrane depolarization during AV node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:22514276^[10]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0019901	protein kinase binding	PMID:22514276^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q13557	F		Seeded From UniProt	complete
involved_in	GO:0006814	sodium ion transport	PMID:22514276^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1902305	regulation of sodium ion transmembrane transport	PMID:18591664^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0097110	scaffold protein binding	PMID:17060380^[12]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P56539	F		Seeded From UniProt	complete
involved_in	GO:0086091	regulation of heart rate by cardiac conduction	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086015	SA node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086043	bundle of His cell action potential	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086016	AV node cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086067	AV node cell to bundle of His cell communication	PMID:10471492^[14]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086012	membrane depolarization during cardiac muscle cell action potential	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086010	membrane depolarization during action potential	PMID:18065446^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086010	membrane depolarization during action potential	PMID:22529811^[15]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086010	membrane depolarization during action potential	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	PMID:18065446^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086014	atrial cardiac muscle cell action potential	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086005	ventricular cardiac muscle cell action potential	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086004	regulation of cardiac muscle cell contraction	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086002	cardiac muscle cell action potential involved in contraction	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	PMID:7889574^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization	PMID:19167345^[18]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	PMID:22247482^[19]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	PMID:19167345^[18]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	PMID:7889574^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051899	membrane depolarization	PMID:21051419^[20]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051899	membrane depolarization	PMID:21895525^[13]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051899	membrane depolarization	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0050998	nitric-oxide synthase binding	PMID:18591664^[11]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P29476	F		Seeded From UniProt	complete
involved_in	GO:0050679	positive regulation of epithelial cell proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
involved_in	GO:0045760	positive regulation of action potential	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
enables	GO:0044325	ion channel binding	PMID:17592081^[21]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q8IWT1	F		Seeded From UniProt	complete
enables	GO:0044325	ion channel binding	PMID:20042427^[22]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9NY72	F		Seeded From UniProt	complete
involved_in	GO:0042475	odontogenesis of dentin-containing tooth	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	PMID:17060380^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:21051419^[20]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0031625	ubiquitin protein ligase binding	PMID:15217910^[23]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96PU5	F		Seeded From UniProt	complete
enables	GO:0030506	ankyrin binding	PMID:15579534^[24]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	PMID:15579534^[24]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0021549	cerebellum development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
involved_in	GO:0021537	telencephalon development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	PMID:19666841^[25]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q8N335	F		Seeded From UniProt	complete
enables	GO:0017134	fibroblast growth factor binding	PMID:12401812^[26]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P61150	F		Seeded From UniProt	complete
involved_in	GO:0014894	response to denervation involved in regulation of muscle adaptation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	PMID:15579534^[24]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JJV9	C		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	PMID:18184654^[27]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JJV9	C		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q2MZF0	C	part_of:(CL:0000746)	Seeded From UniProt	complete
involved_in	GO:0010765	positive regulation of sodium ion transport	PMID:18065446^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010765	positive regulation of sodium ion transport	PMID:22529811^[15]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010765	positive regulation of sodium ion transport	PMID:19808477^[28]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010765	positive regulation of sodium ion transport	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:19666841^[25]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005901	caveola	PMID:23420830^[29]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:17060380^[12]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002131)	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:16728661^[30]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:22529811^[15]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	PMID:22529811^[15]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	PMID:21167176^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P0DP23	F		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:19808477^[28]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:21895525^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:14500339^[16]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0003360	brainstem development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15389	P		Seeded From UniProt	complete
involved_in	GO:0003231	cardiac ventricle development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JJV9	P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:18616619^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:10471492^[14]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:18065446^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:22529811^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:21895525^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	PMID:20042427^[22]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	PMID:21051419^[20]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	PMID:19808477^[28]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	PMID:14500339^[16]	ECO:0000305	curator inference used in manual assertion	GO:0005248	C		Seeded From UniProt	complete
involved_in	GO:0071277	cellular response to calcium ion	PMID:19074138^[31]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:19074138^[31]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006814	sodium ion transport	PMID:19074138^[31]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:19074138^[31]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086016	AV node cell action potential	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001295035 UniProtKB:Q14524 UniProtKB:Q9Y5Y9	P		Seeded From UniProt	complete
involved_in	GO:0086010	membrane depolarization during action potential	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000004140 UniProtKB:Q14524	P		Seeded From UniProt	complete
involved_in	GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:108029 PANTHER:PTN001295035 UniProtKB:Q14524 UniProtKB:Q9Y5Y9	P		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0264255 PANTHER:PTN000798901 RGD:3632 RGD:3637 UniProtKB:Q14524 UniProtKB:Q15858 UniProtKB:Q9Y5Y9	P		Seeded From UniProt	complete
part_of	GO:0030424	axon	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:108029 MGI:MGI:1345149 MGI:MGI:98246 MGI:MGI:98248 PANTHER:PTN000798922 RGD:3635	C		Seeded From UniProt	complete
involved_in	GO:0019228	neuronal action potential	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:98246 PANTHER:PTN000798901 RGD:3632 RGD:3635 RGD:3638 RGD:69364 RGD:69368	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:102965 MGI:MGI:108029 MGI:MGI:1201678 MGI:MGI:1345149 MGI:MGI:98251 PANTHER:PTN000004140 RGD:3638 RGD:68942 RGD:69364 UniProtKB:O43497 UniProtKB:P35498 UniProtKB:Q14524	C		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0264255 MGI:MGI:108029 MGI:MGI:1345149 MGI:MGI:98246 MGI:MGI:98248 MGI:MGI:98250 MGI:MGI:98251 PANTHER:PTN000004137 RGD:3629 RGD:3632 RGD:3635 RGD:3638 RGD:69364 RGD:69368 UniProtKB:Q14524 UniProtKB:Q15858 UniProtKB:Q99250 UniProtKB:Q9UQD0 UniProtKB:Q9Y5Y9	F		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001295035 UniProtKB:Q14524 UniProtKB:Q9Y5Y9	P		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	PMID:21873635^[32]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000004137 RGD:3632 RGD:3635 RGD:3638 RGD:69364 RGD:69368 UniProtKB:Q14524 UniProtKB:Q9Y5Y9	C		Seeded From UniProt	complete
part_of	GO:0001518	voltage-gated sodium channel complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001696 InterPro:IPR008053 InterPro:IPR010526	C		Seeded From UniProt	complete
enables	GO:0005216	ion channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	F		Seeded From UniProt	complete
enables	GO:0005248	voltage-gated sodium channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001696 InterPro:IPR008053 InterPro:IPR010526	F		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
involved_in	GO:0006814	sodium ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001696 InterPro:IPR008053 InterPro:IPR010526	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	C		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
part_of	GO:0016328	lateral plasma membrane	PMID:21164104^[33]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
colocalizes_with	GO:0005901	caveola	PMID:17060380^[12]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0061337	cardiac conduction	Reactome:R-HSA-5576892	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-5576895	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
enables	GO:0005244	voltage-gated ion channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	F		Seeded From UniProt	complete
involved_in	GO:0034765	regulation of ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	P		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0112	F		Seeded From UniProt	complete
involved_in	GO:0006814	sodium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0739	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
enables	GO:0005272	sodium channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0894	F		Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0505	C		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0198	C		Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Núñez, L et al. (2013) p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. Heart Rhythm 10 264-72 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Chagot, B & Chazin, WJ (2011) Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5. J. Mol. Biol. 406 106-19 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Musa, H et al. (2015) SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. Proc. Natl. Acad. Sci. U.S.A. 112 12528-33 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Wang, L et al. (2015) De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. Cell. Physiol. Biochem. 36 2250-62 PubMed GONUTS page
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Surber, R et al. (2008) Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel. Cardiovasc. Res. 77 740-8 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 Ziane, R et al. (2010) Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry 49 166-78 PubMed GONUTS page
↑ Hu, D et al. (2014) Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. J. Am. Coll. Cardiol. 64 66-79 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 ^8.6 ^8.7 Zhang, Y et al. (2008) Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. Acta Physiol (Oxf) 194 311-23 PubMed GONUTS page
↑ ^9.0 ^9.1 Laurent, G et al. (2012) Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. J. Am. Coll. Cardiol. 60 144-56 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Ashpole, NM et al. (2012) Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites. J. Biol. Chem. 287 19856-69 PubMed GONUTS page
↑ ^11.0 ^11.1 Ueda, K et al. (2008) Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc. Natl. Acad. Sci. U.S.A. 105 9355-60 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 ^12.3 Vatta, M et al. (2006) Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114 2104-12 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 ^13.6 ^13.7 ^13.8 Calloe, K et al. (2011) Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A. Can. J. Physiol. Pharmacol. 89 723-36 PubMed GONUTS page
↑ ^14.0 ^14.1 Schott, JJ et al. (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23 20-1 PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 ^15.3 ^15.4 ^15.5 ^15.6 ^15.7 ^15.8 ^15.9 Moreau, A et al. (2012) Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations. Front Pharmacol 3 62 PubMed GONUTS page
↑ ^16.0 ^16.1 ^16.2 ^16.3 ^16.4 ^16.5 ^16.6 Makielski, JC et al. (2003) A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ. Res. 93 821-8 PubMed GONUTS page
↑ ^17.0 ^17.1 Wang, Q et al. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 805-11 PubMed GONUTS page
↑ ^18.0 ^18.1 Li, Q et al. (2009) Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing. Biochem. Biophys. Res. Commun. 380 132-7 PubMed GONUTS page
↑ Makita, N et al. (2012) A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol 5 163-72 PubMed GONUTS page
↑ ^20.0 ^20.1 ^20.2 Olesen, MS et al. (2011) Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89 786-93 PubMed GONUTS page
↑ Medeiros-Domingo, A et al. (2007) SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116 134-42 PubMed GONUTS page
↑ ^22.0 ^22.1 Valdivia, CR et al. (2010) Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc. Res. 86 392-400 PubMed GONUTS page
↑ van Bemmelen, MX et al. (2004) Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination. Circ. Res. 95 284-91 PubMed GONUTS page
↑ ^24.0 ^24.1 ^24.2 Mohler, PJ et al. (2004) Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc. Natl. Acad. Sci. U.S.A. 101 17533-8 PubMed GONUTS page
↑ ^25.0 ^25.1 Valdivia, CR et al. (2009) GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Am. J. Physiol. Heart Circ. Physiol. 297 H1446-52 PubMed GONUTS page
↑ Liu, CJ et al. (2003) Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B. J. Biol. Chem. 278 1029-36 PubMed GONUTS page
↑ Wu, L et al. (2008) Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J. Biol. Chem. 283 6968-78 PubMed GONUTS page
↑ ^28.0 ^28.1 ^28.2 Watanabe, H et al. (2009) Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2 268-75 PubMed GONUTS page
↑ Chakrabarti, S et al. (2013) MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. Circ Arrhythm Electrophysiol 6 392-401 PubMed GONUTS page
↑ Allouis, M et al. (2006) 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5. Circ. Res. 98 1538-46 PubMed GONUTS page
↑ ^31.0 ^31.1 ^31.2 ^31.3 Chagot, B et al. (2009) Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5. J. Biol. Chem. 284 6436-45 PubMed GONUTS page
↑ ^32.0 ^32.1 ^32.2 ^32.3 ^32.4 ^32.5 ^32.6 ^32.7 ^32.8 ^32.9 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Petitprez, S et al. (2011) SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes. Circ. Res. 108 294-304 PubMed GONUTS page

[PMID:23085483-1] 1.0 ^1.1 ^1.2 ^1.3 Núñez, L et al. (2013) p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. Heart Rhythm 10 264-72 PubMed GONUTS page

[PMID:21167176-2] 2.0 ^2.1 ^2.2 Chagot, B & Chazin, WJ (2011) Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5. J. Mol. Biol. 406 106-19 PubMed GONUTS page

[PMID:26392562-3] 3.0 ^3.1 ^3.2 Musa, H et al. (2015) SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. Proc. Natl. Acad. Sci. U.S.A. 112 12528-33 PubMed GONUTS page

[PMID:26279430-4] 4.0 ^4.1 ^4.2 ^4.3 Wang, L et al. (2015) De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. Cell. Physiol. Biochem. 36 2250-62 PubMed GONUTS page

[PMID:18065446-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Surber, R et al. (2008) Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel. Cardiovasc. Res. 77 740-8 PubMed GONUTS page

[PMID:19943616-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 Ziane, R et al. (2010) Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry 49 166-78 PubMed GONUTS page

[PMID:24998131-7] Hu, D et al. (2014) Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. J. Am. Coll. Cardiol. 64 66-79 PubMed GONUTS page

[PMID:18616619-8] 8.0 ^8.1 ^8.2 ^8.3 ^8.4 ^8.5 ^8.6 ^8.7 Zhang, Y et al. (2008) Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. Acta Physiol (Oxf) 194 311-23 PubMed GONUTS page

[PMID:22766342-9] 9.0 ^9.1 Laurent, G et al. (2012) Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. J. Am. Coll. Cardiol. 60 144-56 PubMed GONUTS page

[PMID:22514276-10] 10.0 ^10.1 ^10.2 Ashpole, NM et al. (2012) Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites. J. Biol. Chem. 287 19856-69 PubMed GONUTS page

[PMID:18591664-11] 11.0 ^11.1 Ueda, K et al. (2008) Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc. Natl. Acad. Sci. U.S.A. 105 9355-60 PubMed GONUTS page

[PMID:17060380-12] 12.0 ^12.1 ^12.2 ^12.3 Vatta, M et al. (2006) Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114 2104-12 PubMed GONUTS page

[PMID:21895525-13] 13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 ^13.6 ^13.7 ^13.8 Calloe, K et al. (2011) Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A. Can. J. Physiol. Pharmacol. 89 723-36 PubMed GONUTS page

[PMID:10471492-14] 14.0 ^14.1 Schott, JJ et al. (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23 20-1 PubMed GONUTS page

[PMID:22529811-15] 15.0 ^15.1 ^15.2 ^15.3 ^15.4 ^15.5 ^15.6 ^15.7 ^15.8 ^15.9 Moreau, A et al. (2012) Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations. Front Pharmacol 3 62 PubMed GONUTS page

[PMID:14500339-16] 16.0 ^16.1 ^16.2 ^16.3 ^16.4 ^16.5 ^16.6 Makielski, JC et al. (2003) A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ. Res. 93 821-8 PubMed GONUTS page

[PMID:7889574-17] 17.0 ^17.1 Wang, Q et al. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 805-11 PubMed GONUTS page

[PMID:19167345-18] 18.0 ^18.1 Li, Q et al. (2009) Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing. Biochem. Biophys. Res. Commun. 380 132-7 PubMed GONUTS page

[PMID:22247482-19] Makita, N et al. (2012) A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol 5 163-72 PubMed GONUTS page

[PMID:21051419-20] 20.0 ^20.1 ^20.2 Olesen, MS et al. (2011) Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89 786-93 PubMed GONUTS page

[PMID:17592081-21] Medeiros-Domingo, A et al. (2007) SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116 134-42 PubMed GONUTS page

[PMID:20042427-22] 22.0 ^22.1 Valdivia, CR et al. (2010) Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc. Res. 86 392-400 PubMed GONUTS page

[PMID:15217910-23] van Bemmelen, MX et al. (2004) Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination. Circ. Res. 95 284-91 PubMed GONUTS page

[PMID:15579534-24] 24.0 ^24.1 ^24.2 Mohler, PJ et al. (2004) Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc. Natl. Acad. Sci. U.S.A. 101 17533-8 PubMed GONUTS page

[PMID:19666841-25] 25.0 ^25.1 Valdivia, CR et al. (2009) GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Am. J. Physiol. Heart Circ. Physiol. 297 H1446-52 PubMed GONUTS page

[PMID:12401812-26] Liu, CJ et al. (2003) Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B. J. Biol. Chem. 278 1029-36 PubMed GONUTS page

[PMID:18184654-27] Wu, L et al. (2008) Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J. Biol. Chem. 283 6968-78 PubMed GONUTS page

[PMID:19808477-28] 28.0 ^28.1 ^28.2 Watanabe, H et al. (2009) Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2 268-75 PubMed GONUTS page

[PMID:23420830-29] Chakrabarti, S et al. (2013) MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. Circ Arrhythm Electrophysiol 6 392-401 PubMed GONUTS page

[PMID:16728661-30] Allouis, M et al. (2006) 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5. Circ. Res. 98 1538-46 PubMed GONUTS page

[PMID:19074138-31] 31.0 ^31.1 ^31.2 ^31.3 Chagot, B et al. (2009) Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5. J. Biol. Chem. 284 6436-45 PubMed GONUTS page

[PMID:21873635-32] 32.0 ^32.1 ^32.2 ^32.3 ^32.4 ^32.5 ^32.6 ^32.7 ^32.8 ^32.9 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:21164104-33] Petitprez, S et al. (2011) SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes. Circ. Res. 108 294-304 PubMed GONUTS page

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