GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
HUMAN:SCN5A
Contents
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0019904 |
protein domain specific binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0009986 |
cell surface |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0000746) |
Seeded From UniProt |
complete | ||
part_of |
GO:0030018 |
Z disc |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0000746) |
Seeded From UniProt |
complete | ||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0086063 |
voltage-gated sodium channel activity involved in SA node cell action potential |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0019901 |
protein kinase binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:1902305 |
regulation of sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0097110 |
scaffold protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086091 |
regulation of heart rate by cardiac conduction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086015 |
SA node cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086043 |
bundle of His cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086016 |
AV node cell action potential |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086010 |
membrane depolarization during action potential |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086010 |
membrane depolarization during action potential |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086010 |
membrane depolarization during action potential |
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 |
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 |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086014 |
atrial cardiac muscle cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086005 |
ventricular cardiac muscle cell action potential |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086004 |
regulation of cardiac muscle cell contraction |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060048 |
cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060048 |
cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060048 |
cardiac muscle contraction |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0051899 |
membrane depolarization |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0051899 |
membrane depolarization |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0051899 |
membrane depolarization |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0050998 |
nitric-oxide synthase binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0050679 |
positive regulation of epithelial cell proliferation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045760 |
positive regulation of action potential |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0044325 |
ion channel binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0042475 |
odontogenesis of dentin-containing tooth |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0042383 |
sarcolemma |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0031625 |
ubiquitin protein ligase binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0030506 |
ankyrin binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0030315 |
T-tubule |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0021549 |
cerebellum development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0021537 |
telencephalon development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0019899 |
enzyme binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0017134 |
fibroblast growth factor binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0014894 |
response to denervation involved in regulation of muscle adaptation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0014704 |
intercalated disc |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
part_of:(CL:0000746) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010765 |
positive regulation of sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010765 |
positive regulation of sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010765 |
positive regulation of sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010765 |
positive regulation of sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0009986 |
cell surface |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0009986 |
cell surface |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005901 |
caveola |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0002131) |
Seeded From UniProt |
complete | ||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0003360 |
brainstem development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0003231 |
cardiac ventricle development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000305 |
curator inference used in manual assertion |
GO:0005248 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0071277 |
cellular response to calcium ion |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0086016 |
AV node cell action potential |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN001295035 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0086010 |
membrane depolarization during action potential |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000004140 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060371 |
regulation of atrial cardiac muscle cell membrane depolarization |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:108029 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0035725 |
sodium ion transmembrane transport |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0264255 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0030424 |
axon |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:108029 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0019228 |
neuronal action potential |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:98246 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:102965 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0264255 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0002027 |
regulation of heart rate |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN001295035 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000004137 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0001518 |
voltage-gated sodium channel complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005216 |
ion channel activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005248 |
voltage-gated sodium channel activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006811 |
ion transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0055085 |
transmembrane transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0016328 |
lateral plasma membrane |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
colocalizes_with |
GO:0005901 |
caveola |
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 |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005244 |
voltage-gated ion channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0034765 |
regulation of ion transmembrane transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006811 |
ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006814 |
sodium ion transport |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005272 |
sodium channel activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0030315 |
T-tubule |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0048471 |
perinuclear region of cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
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
a
c
- GO:0005516 ! calmodulin binding
- GO:0061337 ! cardiac conduction
- Cardiac Conduction SCNs
- GO:0086002 ! cardiac muscle cell action potential involved in contraction
- GO:0060048 ! cardiac muscle contraction
- GO:0003231 ! cardiac ventricle development
- Catarrhini
- GO:0005901 ! caveola
- GO:0071277 ! cellular response to calcium ion
- GO:0009986 ! cell surface
- GO:0021549 ! cerebellum development
- Chordata
- Craniata
- GO:0005737 ! cytoplasm
e
m
- Mammalia
- GO:0016020 ! membrane
- GO:0086012 ! membrane depolarization during cardiac muscle cell action potential
- GO:0086010 ! membrane depolarization during action potential
- GO:0086046 ! membrane depolarization during SA node cell action potential
- GO:0086047 ! membrane depolarization during Purkinje myocyte cell action potential
- GO:0086048 ! membrane depolarization during bundle of His cell action potential
- GO:0086045 ! membrane depolarization during AV node cell action potential
- GO:0098912 ! membrane depolarization during atrial cardiac muscle cell action potential
- GO:0051899 ! membrane depolarization
- Metazoa
- GO:0005216 ! monoatomic ion channel activity
- GO:0006811 ! monoatomic ion transport
p
- GO:0048471 ! perinuclear region of cytoplasm
- GO:0005886 ! plasma membrane
- GO:0045760 ! positive regulation of action potential
- GO:0050679 ! positive regulation of epithelial cell proliferation
- GO:0010765 ! positive regulation of sodium ion transport
- Primates
- GO:0019904 ! protein domain specific binding
- GO:0019901 ! protein kinase binding
r
- GO:0060371 ! regulation of atrial cardiac muscle cell membrane depolarization
- GO:0060307 ! regulation of ventricular cardiac muscle cell membrane repolarization
- GO:0060372 ! regulation of atrial cardiac muscle cell membrane repolarization
- GO:0060373 ! regulation of ventricular cardiac muscle cell membrane depolarization
- GO:0086004 ! regulation of cardiac muscle cell contraction
- GO:0086091 ! regulation of heart rate by cardiac conduction
- GO:1902305 ! regulation of sodium ion transmembrane transport
- GO:0002027 ! regulation of heart rate
- GO:0034765 ! regulation of monoatomic ion transmembrane transport
- GO:0014894 ! response to denervation involved in regulation of muscle adaptation
s
t
v
- GO:0086005 ! ventricular cardiac muscle cell action potential
- Vertebrata
- GO:0086062 ! voltage-gated sodium channel activity involved in Purkinje myocyte action potential
- GO:0086063 ! voltage-gated sodium channel activity involved in SA node cell action potential
- GO:0005244 ! voltage-gated monoatomic ion channel activity
- GO:0086061 ! voltage-gated sodium channel activity involved in bundle of His cell action potential
- GO:0086060 ! voltage-gated sodium channel activity involved in AV node cell action potential
- GO:0005248 ! voltage-gated sodium channel activity
- GO:0001518 ! voltage-gated sodium channel complex
- GO:0086006 ! voltage-gated sodium channel activity involved in cardiac muscle cell action potential