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HUMAN:SCN5A

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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

Notes

References

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

  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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