Sodium channel protein type 1 subunit alpha

158

Name

Sodium channel protein type 1 subunit alpha

Synonyms

Sodium channel protein type I subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.1
Sodium channel protein, brain I subunit alpha

Gene Name

SCN1A

Protein Sequence

>Sodium channel protein type 1 subunit alpha
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK

Number of Residues

2009

Molecular Weight

228974

Theoretical pI

5.53

GO Classification

Component
membrane
protein complex
voltage-gated sodium channel complex
cell
Function
binding
ion binding
cation binding
calcium ion binding
transporter activity
voltage-gated sodium channel activity
ion transporter activity
ion channel activity
voltage-gated ion channel activity
Process
cation transport
physiological process
cellular physiological process
monovalent inorganic cation transport
sodium ion transport
transport
ion transport

General Function

Involved in ion channel activity

Specific Function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient

Pathways

Not Available

Reactions

Not Available

Pfam Domain Function

Ion_trans (PF00520 )
IQ (PF00612 )
Na_trans_assoc (PF06512 )

Signals

None

Transmembrane Regions

124-147 156-175 189-207 214-233 250-273 400-425 763-787 799-822 831-850 857-876 893-913 967-992 1214-1237 1251-1276 1283-1304 1309-1330 1350-1377 1457-1483 1537-1560 1572-1595 1602-1625 1636-1657 1673-1695 1762-1786

Essentiality

Non-Essential

GenBank Protein ID

12642270

UniProtKB ID

P35498

UniProtKB Entry Name

SCN1A_HUMAN Link_out

PDB ID

1BYY

PDB File

show

3D Structure

View 3D Structure

Cellular Location

Membrane; multi-pass membrane protein

Gene Sequence

>6000 bp
ATGGAGCAAACAGTGCTTGTACCACCAGGACCTGACAGCTTCAACTTCTTCACCAGAGAA
TCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAGAATCCCAAACCAGAC
AAAAAAGATGACGACGAAAATGGCCCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAAC
CTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTG
GACCCCTACTATATCAATAAGAAAACTTTTATAGTATTGAATAAAGGGAAGGCCATCTTC
CGGTTCAGTGCCACCTCTGCCCTGTACATTTTAACTCCCTTCAATCCTCTTAGGAAAATA
GCTATTAAGATTTTGGTACATTCATTATTCAGCATGCTAATTATGTGCACTATTTTGACA
AACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAAGAATGTAGAATACACC
TTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCAAGGGGATTCTGTTTA
GAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTT
GCGTACGTCACAGAGTTTGTGGACCTGGGCAATGTCTCGGCATTGAGAACATTCAGAGTT
CTCCGAGCATTGAAGACGATTTCAGTCATTCCAGGCCTGAAAACCATTGTGGGAGCCCTG
ATCCAGTCTGTGAAGAAGCTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTA
TTTGCTCTAATTGGGCTGCAGCTGTTCATGGGCAACCTGAGGAATAAATGTATACAATGG
CCTCCCACCAATGCTTCCTTGGAGGAACATAGTATAGAAAAGAATATAACTGTGAATTAT
AATGGTACACTTATAAATGAAACTGTCTTTGAGTTTGACTGGAAGTCATATATTCAAGAT
TCAAGATATCATTATTTCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCT
GATGCAGGCCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTAT
GGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTCTGTCCTTGTTTCGACTAATGACT
CAGGACTTCTGGGAAAATCTTTATCAACTGACATTACGTGCTGCTGGGAAAACGTACATG
ATATTTTTTGTGTTGGTCATTTTCTTGGGCTCATTCTACCTAATAAATTTGATCCTGGCT
GTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGAAGCAGAACAGAAA
GAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAGCAG
GCAGCAACGGCAACTGCCTCAGAACATTCCAGAGAGCCCAGTGCAGCAGGCAGGCTCTCA
GACAGCTCATCTGAAGCCTCTAAGTTGAGTTCCAAGAGTGCTAAGGAAAGAAGAAATCGG
AGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAGATGAGGATGAATTC
CAAAAATCTGAATCTGAGGACAGCATCAGGAGGAAAGGTTTTCGCTTCTCCATTGAAGGG
AACCGATTGACATATGAAAAGAGGTACTCCTCCCCACACCAGTCTTTGTTGAGCATCCGT
GGCTCCCTATTTTCACCAAGGCGAAATAGCAGAACAAGCCTTTTCAGCTTTAGAGGGCGT
GCAAAGGATGTGGGATCTGAGAACGACTTCGCAGATGATGAGCACAGCACCTTTGAGGAT
AACGAGAGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGC
AACCTGAGTCAGACCAGTAGGTCATCCCGGATGCTGGCAGTGTTTCCAGCGAATGGGAAG
ATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTTGGTGGACCTTCAGTTCCT
ACATCGCCTGTTGGACAGCTTCTGCCAGGGGGAACAACCACTGAAACTGAAATGAGAAAG
AGAAGGTCAAGTTCTTTCCACGTTTCCATGGACTTTCTAGAAGATCCTTCCCAAAGGCAA
CGAGCAATGAGTATAGCCAGCATTCTAACAAATACAGTAGAAGAACTTGAAGAATCCAGG
CAGAAATGCCCACCCTGTTGGTATAAATTTTCCAACATATTCTCAATCTGGGACTGTTCT
CCATATTGGTTAAAAGTGAAACATGTTGTCAACCTGGTCGTGATGGACCCATTTGTTGAC
CTGGCCATCACCATCTGTATTGTCTTAAATACTCTTTTCATGGCCATGGAGCACTATCCA
ATGACGGACCATTTCAATAATGTGCTTACAGTAGGAAACTTGGTTTTCACTGGGATCTTT
ACAGCAGAAATGTTTCTGAAAATTATTGCCATGGATCCTTACTATTATTTCCAAGAAGGC
TGGAATATCTTTGACGGTTTTATTGTGACGCTTAGCCTGGTAGAACTTGGACTCGCCAAT
GTGGAAGGATTATCTGTTCTCCGTTCATTTCGATTGCTGCGAGTTTTCAAGTTGGCAAAA
TCTTGGCCAACGTTAAATATGCTAATAAAGATCATCGGCAATTCCGTGGGGGCTCTGGGA
AATTTAACCCTCGTCTTGGCCATCATCGTCTTCATTTTTGCCGTGGTCGGCATGCAGCTC
TTTGGTAAAAGCTACAAAGATTGTGTCTGCAAGATCGCCAGTGATTGTCAACTCCCACAA
CGCTGGCACATGAATGACTTCTTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGTGTGGG
GAGTGGATAGAGACCATGTGGGACTGTATGGAGGTTGCTGGTCAAGCCATGTGCCTTACT
GTCTTCATGATGGTCATGGTGATTGGAAACCTAGTGGTCCTGAATCTCTTTCTGGCCTTG
CTTCTGAGCTCATTTAGTGCAGACAACCTTGCAGCCACTGATGATGATAATGAAATGAAT
AATCTCCAAATTGCTGTGGATAGGATGCACAAAGGAGTAGCTTATGTGAAAAGAAAAATA
TATGAATTTATTCAACAGTCCTTCATTAGGAAACAAAAGATTTTAGATGAAATTAAACCA
CTTGATGATCTAAACAACAAGAAAGACAGTTGTATGTCCAATCATACAACAGAAATTGGG
AAAGATCTTGACTATCTTAAAGATGTAAATGGAACTACAAGTGGTATAGGAACTGGCAGC
AGTGTTGAAAAATACATTATTGATGAAAGTGATTACATGTCATTCATAAACAACCCCAGT
CTTACTGTGACTGTACCAATTGCTGTAGGAGAATCTGACTTTGAAAATTTAAACACGGAA
GACTTTAGTAGTGAATCGGATCTGGAAGAAAGCAAAGAGAAACTGAATGAAAGCAGTAGC
TCATCAGAAGGTAGCACTGTGGGACATCGGCGCCCTGTAGAAGAACAGCCCGTAGTGGAA
CCTGAAGAAACTCTTGAACCAGAAGCTTGTTTCACTGAAGGCTGTGTACAAAGATTCAAG
TGTTGTCAAATCAATGTGGAAGAAGGCAGAGGAAAACAATGGTGGAACCTGAGAAGGACG
TGTTTCCGAATAGTTGAACATAACTGGTTTGAGACCTTCATTGTTTTCATGATTCTCCTT
AGTAGTGGTGCTCTGGCATTTGAAGATATATATATTGATCAGCGAAAGACGATTAAGACG
ATGTTGGAATATGCTGACAAGGTTTTCACTTACATTTTCATTCTGGAAATGCTTCTAAAA
TGGGTGGCATATGGCTATCAAACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTA
ATTGTTGATGTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGA
GCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTT
GAAGGGATGAGGGTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTG
CTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCT
GGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTG
AATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAAT
GTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTTGCCACA
TTCAAAGGATGGATGGATATAATGTATGCAGCAGTTGATTCCAGAAATGTGGAACTCCAG
CCTAAGTATGAAGAAAGTCTGTACATGTATCTTTACTTTGTTATTTTCATCATCTTTGGG
TCCTTCTTCACCTTGAACCTGTTTATTGGTGTCATCATAGATAATTTCAACCAGCAGAAA
AAGAAGTTTGGAGGTCAAGACATCTTTATGACAGAAGAACAGAAGAAATACTATAATGCA
ATGAAAAAATTAGGATCGAAAAAACCGCAAAAGCCTATACCTCGACCAGGAAACAAATTT
CAAGGAATGGTCTTTGACTTCGTAACCAGACAAGTTTTTGACATAAGCATCATGATTCTC
ATCTGTCTTAACATGGTCACAATGATGGTGGAAACAGATGACCAGAGTGAATATGTGACT
ACCATTTTGTCACGCATCAATCTGGTGTTCATTGTGCTATTTACTGGAGAGTGTGTACTG
AAACTCATCTCTCTACGCCATTATTATTTTACCATTGGATGGAATATTTTTGATTTTGTG
GTTGTCATTCTCTCCATTGTAGGTATGTTTCTTGCCGAGCTGATAGAAAAGTATTTCGTG
TCCCCTACCCTGTTCCGAGTGATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATC
AAAGGAGCAAAGGGGATCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTG
TTTAACATCGGCCTCCTACTCTTCCTAGTCATGTTCATCTACGCCATCTTTGGGATGTCC
AACTTTGCCTATGTTAAGAGGGAAGTTGGGATCGATGACATGTTCAACTTTGAGACCTTT
GGCAACAGCATGATCTGCCTATTCCAAATTACAACCTCTGCTGGCTGGGATGGATTGCTA
GCACCCATTCTCAACAGTAAGCCACCCGACTGTGACCCTAATAAAGTTAACCCTGGAAGC
TCAGTTAAGGGAGACTGTGGGAACCCATCTGTTGGAATTTTCTTTTTTGTCAGTTACATC
ATCATATCCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGT
GTTGCTACTGAAGAAAGTGCAGAGCCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAG
GTTTGGGAGAAGTTTGATCCCGATGCAACTCAGTTCATGGAATTTGAAAAATTATCTCAG
TTTGCAGCTGCGCTTGAACCGCCTCTCAATCTGCCACAACCAAACAAACTCCAGCTCATT
GCCATGGATTTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGATATCTTATTTGCT
TTTACAAAGCGGGTTCTAGGAGAGAGTGGAGAGATGGATGCTCTACGAATACAGATGGAA
GAGCGATTCATGGCTTCCAATCCTTCCAAGGTCTCCTATCAGCCAATCACTACTACTTTA
AAACGAAAACAAGAGGAAGTATCTGCTGTCATTATTCAGCGTGCTTACAGACGCCACCTT
TTAAAGCGAACTGTAAAACAAGCTTCCTTTACGTACAATAAAAACAAAATCAAAGGTGGG
GCTAATCTTCTTATAAAAGAAGACATGATAATTGACAGAATAAATGAAAACTCTATTACA
GAAAAAACTGATCTGACCATGTCCACTGCAGCTTGTCCACCTTCCTATGACCGGGTGACA
AAGCCAATTGTGGAAAAACATGAGCAAGAAGGCAAAGATGAAAAAGCCAAAGGGAAATAA

GenBank Gene ID

AF225985

GeneCard ID

SCN1A

GenAtlas ID

SCN1A

HGNC ID

HGNC:10585 Link_out

HPRD ID

01669

IUPHAR ID

578

Guide to Pharmacology ID

Chromosome Location

Not Available

Locus

2q24.3

SNPs

SCN1A

General References

Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000 Apr;24(4):343-5. Pubmed
Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM: Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenet Cell Genet. 1994;67(3):178-86. Pubmed
Lu CM, Han J, Rado TA, Brown GB: Differential expression of two sodium channel subtypes in human brain. FEBS Lett. 1992 May 25;303(1):53-8. Pubmed
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF: Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2001 Apr;68(4):859-65. Epub 2001 Mar 13. Pubmed
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH: A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus—and prevalence of variants in patients with epilepsy. Am J Hum Genet. 2001 Apr;68(4):866-73. Epub 2001 Mar 14. Pubmed
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15. Pubmed
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL Jr: Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 2001 Dec 26;57(12):2265-72. Pubmed

Drugs

#	DrugBank ID	Drug Name	Drug Type	Drug Groups
1	DB01595	Nitrazepam	small molecule	approved
2	DB04930	Permethrin	small molecule	approved, investigational
3	DB01121	Phenacemide	small molecule	approved
4	DB01438	Phenazopyridine	small molecule	approved
5	DB00252	Phenytoin	small molecule	approved
6	DB00273	Topiramate	small molecule	approved
7	DB00909	Zonisamide	small molecule	approved, investigational