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sodium voltage-gated channel alpha subunit 4

Summary

Gene Symbol

SCN4A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6329

PubChem

6329

Alliance of Genome Resources

HGNC:10591

Annotation

Keyword

3D-structure
Cell membrane
Congenital myasthenic syndrome
Disease variant
Disulfide bond
Glycoprotein
Phosphoprotein
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Voltage-gated channel

Proteins

Displaying 1 entry
UniProt	Protein Name
P35499	SkM1 Sodium channel protein skeletal muscle subunit alpha Sodium channel protein type IV subunit alpha Voltage-gated sodium channel subunit alpha Nav1.4

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
sodium ion transport	TAS	10218481
muscle contraction	TAS	1338909
sodium ion transmembrane transport	IDA	12766226 30190309
sodium ion transmembrane transport	IBA
cardiac muscle cell action potential involved in contraction	IBA

GO Hierarchy

biological process

cellular process [inference]

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

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 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 skeletal muscle contraction [inference]

regulation of skeletal muscle contraction by action potential

regulation of biological quality [inference]

regulation of membrane potential [inference]

action potential [inference]

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

regulation of skeletal muscle contraction by action potential

Displaying **all 3** entries
GO Term	Evidence Code	PMID
voltage-gated sodium channel complex	IDA	30190309
voltage-gated sodium channel complex	IBA
plasma membrane	IDA	12766226 30190309

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 [inference]

plasma membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
voltage-gated sodium channel activity	IDA	12766226 30190309
voltage-gated sodium channel activity	IBA
protein binding	IPI	30190309

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

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

metal ion transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

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

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

salt transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

sodium channel protein

Functional Category

E: Amino acid transport and metabolism
K: Transcription
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 7** entries
Gene Ontology
membrane depolarization during action potential
monoatomic ion channel activity
monoatomic ion transport
neuronal action potential
sodium channel activity
sodium ion transmembrane transport
voltage-gated sodium channel activity

Displaying **all 7** entries
InterPro
Ion transport domain
Sodium ion transport-associated domain
Voltage gated sodium channel, alpha subunit
Voltage-dependent channel domain superfamily
Voltage-gated Na+ ion channel, cytoplasmic domain
Voltage-gated cation channel calcium and sodium
Voltage-gated sodium channel alpha subunit, inactivation gate

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0081354	congenital myopathy 22A	Alliance of Genome Resources
DOID:0081355	congenital myopathy 22B	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of **126** in total

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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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Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements