GlyCosmos Portal

Submissions

sodium voltage-gated channel alpha subunit 4

Summary

Gene Symbol

SCN4A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6329

KEGG Gene ID

PubChem

6329

Alliance of Genome Resources

HGNC:10591

Annotation

Keyword

3D-structure
Cell membrane
Congenital myasthenic syndrome
Disease variant
Disulfide bond
Glycoprotein
Phosphoprotein
Proteomics identification
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 11 in total

1

2

3

Next ›

Last »
GO Term	Evidence Code	PMID
action potential	IEA
monoatomic ion transport	IEA
ion transport	IEA
sodium ion transport	TAS
sodium ion transport	IEA

GO Hierarchy

biological process

cellular process [inference]

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic 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

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

monoatomic ion transmembrane transport [inference]

monoatomic 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

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

regulation of skeletal muscle contraction by action potential

Displaying entries **1 - 5** of 8 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
voltage-gated sodium channel complex	IDA
voltage-gated sodium channel complex	IBA
voltage-gated sodium channel complex	IEA
plasma membrane	EXP
plasma membrane	TAS

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 structure [inference]

membrane

plasma membrane

Displaying entries **1 - 5** of 8 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
ion channel activity	IEA
monoatomic ion channel activity	IEA
voltage-gated sodium channel activity	TAS
voltage-gated sodium channel activity	IDA
voltage-gated sodium channel activity	IBA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity

monoatomic cation channel activity

sodium channel activity [inference]

voltage-gated sodium channel activity

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity

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

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity

monoatomic cation channel activity

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:0111538	paramyotonia congenita of Von Eulenburg	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis	Alliance of Genome Resources