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sodium voltage-gated channel alpha subunit 5

Summary

Gene Symbol

SCN5A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6331

PubChem

6331

Alliance of Genome Resources

HGNC:10593

Annotation

Keyword

3D-structure
Alternative splicing
Atrial fibrillation
Brugada syndrome
Calmodulin-binding
Cardiomyopathy
Cell junction
Cell membrane
Coiled coil
Cytoplasm
Disease variant
Disulfide bond
Glycoprotein
Long QT syndrome
Methylation
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Ubl conjugation
Voltage-gated channel

Proteins

Displaying **all 6** entries
UniProt	Protein Name
H9KVD2
K4DIA1
E9PG18
Q14524	Sodium channel protein cardiac muscle subunit alpha Sodium channel protein type V subunit alpha Voltage-gated sodium channel subunit alpha Nav1.5 hH1
E9PHB6
Q86V90

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
regulation of heart rate	IMP	10471492 18065446 18616619 21895525 22529811 23085483 26279430 26392562
cardiac conduction system development	NAS	26786210
cardiac ventricle development	ISS
brainstem development	ISS
sodium ion transport	IDA	19074138 22514276

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell communication involved in cardiac conduction [inference]

AV node cell to bundle of His cell communication

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction [inference]

striated muscle contraction [inference]

cardiac muscle contraction

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

odontogenesis [inference]

odontogenesis of dentin-containing tooth

anatomical structure development [inference]

cardiac chamber development [inference]

cardiac ventricle development

brainstem development

tissue development [inference]

muscle tissue development [inference]

striated muscle tissue development [inference]

cardiac muscle tissue development [inference]

cardiac conduction system development

response to stimulus [inference]

response to inactivity [inference]

response to muscle inactivity [inference]

response to muscle inactivity involved in regulation of muscle adaptation [inference]

response to denervation involved in regulation of muscle adaptation

response to stimulus involved in regulation of muscle adaptation [inference]

response to muscle inactivity involved in regulation of muscle adaptation [inference]

response to denervation involved in regulation of muscle adaptation

response to chemical [inference]

response to organic substance [inference]

response to calcium ion [inference]

cellular response to calcium ion

response to inorganic substance [inference]

response to metal ion [inference]

response to calcium ion [inference]

cellular response to calcium ion

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

response to oxygen-containing compound [inference]

response to calcium ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

response to salt [inference]

response to calcium ion [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

sodium ion transport

sodium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of transport [inference]

regulation of transmembrane transport [inference]

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

regulation of monoatomic ion transport [inference]

regulation of metal ion transport [inference]

regulation of sodium ion transport [inference]

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of biological process [inference]

positive regulation of action potential

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

regulation of cellular process [inference]

regulation of membrane depolarization [inference]

regulation of actin filament-based process [inference]

regulation of actin filament-based movement [inference]

regulation of cardiac muscle cell contraction

regulation of transmembrane transport [inference]

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process [inference]

regulation of muscle contraction [inference]

regulation of striated muscle contraction [inference]

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate

regulation of heart rate by cardiac conduction

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction

cardiac conduction [inference]

regulation of heart rate by cardiac conduction

regulation of membrane repolarization [inference]

regulation of cardiac muscle cell membrane repolarization [inference]

regulation of action potential [inference]

positive regulation of action potential

regulation of biological quality [inference]

regulation of heart rate

regulation of heart rate by cardiac conduction

regulation of membrane potential [inference]

action potential [inference]

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

regulation of membrane depolarization [inference]

membrane depolarization

membrane depolarization during action potential

membrane depolarization during cardiac muscle cell action potential

regulation of membrane repolarization [inference]

regulation of cardiac muscle cell membrane repolarization [inference]

regulation of action potential [inference]

positive regulation of action potential

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GO Term	Evidence Code	PMID
voltage-gated sodium channel complex	IC	14500339
voltage-gated sodium channel complex	IDA	19808477 20042427 21051419 24567321
voltage-gated sodium channel complex	IBA
nucleoplasm	IDA
nucleolus	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex [inference]

voltage-gated sodium channel complex

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

sodium channel complex [inference]

voltage-gated sodium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

sodium channel complex [inference]

voltage-gated sodium channel complex

cellular anatomical entity [inference]

membrane

plasma membrane

sarcolemma

plasma membrane region [inference]

plasma membrane raft [inference]

caveola

membrane microdomain [inference]

membrane raft [inference]

plasma membrane raft [inference]

caveola

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

cell-cell contact zone [inference]

intercalated disc

T-tubule

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular non-membrane-bounded organelle [inference]

nucleolus

perinuclear region of cytoplasm

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GO Term	Evidence Code	PMID
voltage-gated sodium channel activity	IDA	14500339 17592081 19074138 19943616 21895525 22514276
voltage-gated sodium channel activity	IMP	23085483 26279430 26392562
voltage-gated sodium channel activity	IBA
protein binding	IPI	16728661 16930557 17592081 18184654 18591664 19943616 22514276 22705208 26392562 32296183
calmodulin binding	IPI	21167176

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

metal ion transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

metal ion transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

salt transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

binding [inference]

protein binding

calmodulin binding

cytoskeletal protein binding [inference]

ankyrin binding

growth factor binding [inference]

fibroblast growth factor binding

enzyme binding

kinase binding [inference]

protein kinase binding

ubiquitin-like protein ligase binding [inference]

ubiquitin protein ligase binding

nitric-oxide synthase binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

sodium channel alpha subunit

Functional Category

E: Amino acid transport and metabolism
J: Translation, ribosomal structure and biogenesis
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
membrane depolarization during action potential
monoatomic ion channel activity
monoatomic ion transport
neuronal action potential
sodium ion transmembrane transport
voltage-gated sodium channel activity

Displaying **all 3** entries
InterPro
Ion transport domain
Voltage-dependent channel domain superfamily
Voltage-gated cation channel calcium and sodium

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0050650	familial atrial fibrillation	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA	Alliance of Genome Resources
DOID:13884	sick sinus syndrome	Alliance of Genome Resources
DOID:2843	long QT syndrome	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome	Alliance of Genome Resources

Ortholog

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Species	Gene ID	Alliance of Genome Resources
Saccharomyces cerevisiae S288C	773	SGD:S000003449
Saccharomyces cerevisiae S288C	774	SGD:S000003449
Saccharomyces cerevisiae S288C	775	SGD:S000003449
Saccharomyces cerevisiae S288C	776	SGD:S000003449
Saccharomyces cerevisiae S288C	777	SGD:S000003449
Saccharomyces cerevisiae S288C	778	SGD:S000003449
Saccharomyces cerevisiae S288C	779	SGD:S000003449
Saccharomyces cerevisiae S288C	6323	SGD:S000003449
Saccharomyces cerevisiae S288C	6326	SGD:S000003449
Saccharomyces cerevisiae S288C	6328	SGD:S000003449

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements