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sodium voltage-gated channel alpha subunit 1

Summary

Gene Symbol

SCN1A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6323

KEGG Gene ID

PubChem

6323

Alliance of Genome Resources

HGNC:10585

Annotation

Keyword

3D-structure
Alternative splicing
Autism
Cell membrane
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Voltage-gated channel

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A286YF26
P35498	Sodium channel protein brain I subunit alpha Sodium channel protein type I subunit alpha Voltage-gated sodium channel subunit alpha Nav1.1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 22 in total

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GO Term	Evidence Code	PMID
action potential	IEA
monoatomic ion transport	IEA
ion transport	IEA
sodium ion transport	NAS
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]

nervous system process [inference]

neuronal action potential propagation

neuromuscular process [inference]

neuromuscular process controlling posture

behavior [inference]

locomotory behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

walking behavior [inference]

adult walking behavior

adult behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

determination of adult lifespan

developmental process [inference]

anatomical structure development [inference]

nerve development

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

detection of stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of pain

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

establishment of localization in cell

biological regulation [inference]

regulation of biological quality [inference]

regulation of membrane potential [inference]

action potential

neuronal action potential

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

action potential propagation [inference]

neuronal action potential propagation

membrane depolarization [inference]

membrane depolarization during action potential

regulation of presynaptic membrane potential

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
voltage-gated sodium channel complex	IBA
voltage-gated sodium channel complex	IEA
nucleoplasm
plasma membrane	EXP
plasma membrane	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

voltage-gated sodium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

sodium channel complex

voltage-gated sodium channel complex

cellular anatomical structure [inference]

nucleoplasm

membrane

plasma membrane

Z disc

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

cell-cell contact zone [inference]

intercalated disc

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

axon initial segment

organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nuclear body

intracellular organelle [inference]

intracellular membraneless organelle [inference]

nuclear body

cell body [inference]

neuronal cell body

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
ion channel activity	IEA
monoatomic ion channel activity	IEA
voltage-gated sodium channel activity	ISS
voltage-gated sodium channel activity	NAS
voltage-gated sodium channel activity	IMP

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

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

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

monoatomic cation channel activity

sodium channel activity [inference]

voltage-gated sodium channel activity

gated channel activity [inference]

voltage-gated channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

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:0070379	developmental and epileptic encephalopathy 6B	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus	Alliance of Genome Resources
DOID:0080422	Dravet syndrome	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements