SCN1A Membrane Protein Introduction

Introduction of SCN1A

The SCN1A gene codes the alpha subunit of the voltage-gated sodium ion channel. It is a member of ten paralogous gene families which code the voltage-gated sodium transmembrane proteins NaV1.1. The SCN1A gene is located on chromosome 2 of humans and consists of 26 exons spanning a total length of 6030 nucleotide base pairs (bp). The protein contains four internal repeat sequences, each of which has five hydrophobic segments (S1, S2, S3, S5, S6) and a positively charged segment (S4). Segment S4 may be a voltage sensor and has a series of positively charged amino acids at each third position.

Basic Information of SCN1A
Protein Name	Sodium channel protein type 1 subunit alpha
Gene Name	SCN1A
Aliases	Sodium channel protein brain I subunit alpha, Sodium channel protein type I subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.1
Organism	Homo sapiens (Human)
UniProt ID	P35498
Transmembrane Times	24
Length (aa)	2009
Sequence	MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK

Function of SCN1A Membrane Protein

SCN1A membrane protein mediates the voltage-dependent sodium ion permeability of excitable membranes. In response to a voltage difference across the membrane, the conformation is turned on or off to form a sodium-selective channel through which Na⁺ ions can pass according to the electrochemical gradient. SCN1A plays a key role in the brain, probably by regulating the moment when neurotransmitters are released in neurons. It involves the sensory perception of mechanical pain. Diseases associated with SCN1A include generalized epilepsy with febrile seizures plus 2 (GEFS+2), migraine, familial hemiplegic 3 (FHM3), early infantile epileptic encephalopathy-6 and intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) and familial febrile seizures 3A (FEB3A). These diseases are caused by mutations affecting the gene represented in this entry.

SCN1A Membrane Protein Introduction

Application of SCN1A Membrane Protein in Literature

Saitoh M., et al. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Epilepsy Research. 2015, 117:1-6. PubMed ID: 26311622

This article finds that mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion. Altered channel activity caused by these mutations may provoke seizures and excitotoxic brain damage.
Chen Y.J., et al. Electrophysiological differences between the same pore region mutation in SCN1A and SCN3A. Molecular Neurobiology. 2015, 51(3):1263-70. PubMed ID: 24990319

This article suggests a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region.
Barba C., et al. Co-occurring malformations of cortical development and SCN1A gene mutations. Epilepsia. 2014, 55(7):1009-19. PubMed ID: 24266897

This article suggests FCD can influence the electroclinical pattern in patients with SCN1A mutations.
Namazi S., et al. SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients. Iranian Journal of Basic Medical Sciences. 2015, 18(12):1215-20. PubMed ID: 26877851

This article reveals that SCN1A gene polymorphisms are related to plasma levels of CBZ and CBZE.
Usluer S., et al. SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations. Seizure. 2016, 39:34-43. PubMed ID: 27236449

This article suggests that in a clinically heterogeneous cohort, although biased toward DS phenotype, 46% of the patients have epilepsy caused by SCN1A mutations and the mutation ratio among DS patients are 41.3% which is significantly lower than the reported ratio.

SCN1A Preparation Options

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