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Sodium channel protein type 1 subunit alpha

Summary

UniProt ID: P35498
Gene Symbol: NAC1 SCN1 SCN1A
Gene ID: 6323
Organism: Homo sapiens (human)

External Links

GlyGen: P35498
PubChem: P35498
The Human Metabolome Database: HMDBP09078
Re-Glyco: P35498

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

Gene Ontology (GO)

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

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GO Term	Evidence Code	Reference
sodium ion transport	NAS	PMID
sodium ion transport	IEA	GO_REF
adult walking behavior
determination of adult lifespan
neuronal action potential propagation

GO Hierarchy

biological process

cellular process [inference]

transmembrane transport [inference]

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 [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

establishment of localization in cell

biological regulation [inference]

regulation of biological quality [inference]

regulation of membrane potential [inference]

action potential [inference]

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

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

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]

nucleoplasm

membrane [inference]

plasma membrane

Z disc

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

cell-cell contact zone [inference]

intercalated disc

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 8 in total

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GO Term	Evidence Code	Reference
voltage-gated sodium channel activity	ISS	GO_REF
voltage-gated sodium channel activity	NAS	PMID
voltage-gated sodium channel activity	IMP	PMID
voltage-gated sodium channel activity	IBA	GO_REF
voltage-gated sodium channel activity	IEA	GO_REF GO_REF GO_REF

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

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

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

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

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

monoatomic cation channel activity [inference]

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 UniProt.

Annotation information from UniProt.

Sequence

MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 9** entries
Position	Description	PubMed ID	Source
211	N-linked (GlcNAc...) asparagine		UniProt GlyGen
284	N-linked (GlcNAc...) asparagine		UniProt GlyGen
295	N-linked (GlcNAc...) asparagine		UniProt GlyGen
301	N-linked (GlcNAc...) asparagine		UniProt GlyGen
306	N-linked (GlcNAc...) asparagine		UniProt GlyGen
338	N-linked (GlcNAc...) asparagine	33712547	UniProt GlyGen
1378	N-linked (GlcNAc...) asparagine	33712547	UniProt GlyGen
1392	N-linked (GlcNAc...) asparagine	33712547	UniProt GlyGen
1403	N-linked (GlcNAc...) asparagine	33712547	UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
Interaction between L1 and Ankyrins	Homo sapiens
Phase 0 - rapid depolarisation	Homo sapiens

Disease

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0070379	developmental and epileptic encephalopathy 6B	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2	Alliance of Genome Resources
DOID:0080422	Dravet syndrome	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Acknowledgements