SCN1A
entrez
6323
canonical
uniprot
P35498
canonical
ensembl
ENSG00000144285
resolver
ensp
ENSP00000303540
resolver
ensp
ENSP00000386312
resolver
ensp
ENSP00000490184
resolver
ensp
ENSP00000490780
resolver
ensp
ENSP00000490799
resolver
ensp
ENSP00000492917
resolver
ensp
ENSP00000492945
resolver
ensp
ENSP00000501589
resolver
ensp
ENSP00000518996
resolver
enst
ENST00000641575
resolver
genesymbol
SCN1A
resolver
genesymbol_syn
NAC1
resolver
genesymbol_syn
SCN1
resolver
hgnc
HGNC:10585
resolver
uniprot
A0A286YF26
resolver
uniprot
E9PG49
resolver
uniprot
Q16172
resolver
uniprot
Q585T7
resolver
uniprot
Q8IUJ6
resolver
uniprot
Q96LA3
resolver
uniprot
Q9C008
resolver
uniprot_entry
A0A286YF26_HUMAN
resolver
uniprot_entry
SCN1A_HUMAN
resolver
uniprot_sec
E9PG49
resolver
uniprot_sec
Q16172
resolver
uniprot_sec
Q585T7
resolver
uniprot_sec
Q8IUJ6
resolver
uniprot_sec
Q96LA3
resolver
uniprot_sec
Q9C008
resolver
activity_regulation
ACTIVITY REGULATION: Activated by the spider toxins Hm1a and Hm1b (H.maculata, AC P60992 and AC P0DOC5) eliciting acute pain and mechanical allodynia (By similarity). Inhibited by the conotoxin GVIIJ (PubMed:24497506). Inhibited by the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547). {ECO:0000250|UniProtKB:A2APX8, ECO:0000269|PubMed:24497506, ECO:0000269|PubMed:28428547}.
uniprot
proteins
amino_acid_sequence
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK
uniprot
proteins
disease_involvement
DISEASE: Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444, ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484, ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936, ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402, ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999, ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291, ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552, ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dravet syndrome (DRVT) [MIM:607208]: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core DRVT. DRVT is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. {ECO:0000269|PubMed:11359211, ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:12754708, ECO:0000269|PubMed:12821740, ECO:0000269|PubMed:14504318, ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:14738421, ECO:0000269|PubMed:15087100, ECO:0000269|PubMed:15944908, ECO:0000269|PubMed:16122630, ECO:0000269|PubMed:16458823, ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17129991, ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18639757, ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:20110217, ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:20452746, ECO:0000269|PubMed:20522430, ECO:0000269|PubMed:20729507, ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21555645, ECO:0000269|PubMed:21719429, ECO:0000269|PubMed:21753172, ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:22092154, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28544625, ECO:0000269|PubMed:33712547}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. {ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:16210358, ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23708187}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:16054936, ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921, ECO:0000269|PubMed:19332696, ECO:0000269|PubMed:33712547}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 6B (DEE6B) [MIM:619317]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE6B is an autosomal dominant condition characterized by onset of seizures in early infancy, profoundly impaired intellectual development, and a hyperkinetic movement disorder. {ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:24776920, ECO:0000269|PubMed:28794249}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos syndrome, a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an electroencephalogram that shows shifting and/or multiple foci, often with occipital predominance. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Cardiorespiratory arrest is exceptional. {ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291, ECO:0000269|PubMed:19522081}.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:14672992). By regulating the excitability of neurons, ensures that they respond appropriately to synaptic inputs, maintaining the balance between excitation and inhibition in brain neural circuits (By similarity). Nav1.1 plays a role in controlling the excitability and action potential propagation from somatosensory neurons, thereby contributing to the sensory perception of mechanically-induced pain (By similarity). {ECO:0000250|UniProtKB:A2APX8, ECO:0000269|PubMed:14672992}.
uniprot
proteins
mass_dalton
228972
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250|UniProtKB:P04775}.
uniprot
proteins
protein_family
Nav1.1/SCN1A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
10742094
uniprot
proteins
pubmed
11254444
uniprot
proteins
pubmed
11254445
uniprot
proteins
pubmed
11359211
uniprot
proteins
pubmed
11524484
uniprot
proteins
pubmed
11756608
uniprot
proteins
pubmed
12083760
uniprot
proteins
pubmed
12535936
uniprot
proteins
pubmed
12566275
uniprot
proteins
pubmed
12576172
uniprot
proteins
pubmed
12610651
uniprot
proteins
pubmed
12754708
uniprot
proteins
pubmed
12821740
uniprot
proteins
pubmed
12919402
uniprot
proteins
pubmed
1317301
uniprot
proteins
pubmed
14504318
uniprot
proteins
pubmed
14672992
uniprot
proteins
pubmed
14738421
uniprot
proteins
pubmed
15087100
uniprot
proteins
pubmed
15525788
uniprot
proteins
pubmed
15694566
uniprot
proteins
pubmed
15715999
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15944908
uniprot
proteins
pubmed
16054936
uniprot
proteins
pubmed
16122630
uniprot
proteins
pubmed
16210358
uniprot
proteins
pubmed
16326807
uniprot
proteins
pubmed
16458823
uniprot
proteins
pubmed
16525050
uniprot
proteins
pubmed
16713920
uniprot
proteins
pubmed
17054684
uniprot
proteins
pubmed
17054685
uniprot
proteins
pubmed
17129991
uniprot
proteins
pubmed
17347258
uniprot
proteins
pubmed
17397047
uniprot
proteins
pubmed
17507202
uniprot
proteins
pubmed
17561957
uniprot
proteins
pubmed
17679682
uniprot
proteins
pubmed
17927801
uniprot
proteins
pubmed
17928445
uniprot
proteins
pubmed
18021921
uniprot
proteins
pubmed
18031552
uniprot
proteins
pubmed
18251839
uniprot
proteins
pubmed
18330841
uniprot
proteins
pubmed
18413471
uniprot
proteins
pubmed
18566737
uniprot
proteins
pubmed
18639757
uniprot
proteins
pubmed
18930999
uniprot
proteins
pubmed
19332696
uniprot
proteins
pubmed
19339291
uniprot
proteins
pubmed
19464195
uniprot
proteins
pubmed
19522081
uniprot
proteins
pubmed
19563458
uniprot
proteins
pubmed
19589774
uniprot
proteins
pubmed
19694741
uniprot
proteins
pubmed
19783390
uniprot
proteins
pubmed
20110217
uniprot
proteins
pubmed
20117752
uniprot
proteins
pubmed
20392657
uniprot
proteins
pubmed
20431604
uniprot
proteins
pubmed
20452746
uniprot
proteins
pubmed
20522430
uniprot
proteins
pubmed
20550552
uniprot
proteins
pubmed
20600615
uniprot
proteins
pubmed
20682179
uniprot
proteins
pubmed
20729507
uniprot
proteins
pubmed
21248271
uniprot
proteins
pubmed
21555645
uniprot
proteins
pubmed
21566136
uniprot
proteins
pubmed
21719429
uniprot
proteins
pubmed
21753172
uniprot
proteins
pubmed
21864321
uniprot
proteins
pubmed
22092154
uniprot
proteins
pubmed
22309220
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
23195492
uniprot
proteins
pubmed
23647072
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24497506
uniprot
proteins
pubmed
24776920
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
26311622
uniprot
proteins
pubmed
26637798
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28428547
uniprot
proteins
pubmed
28544625
uniprot
proteins
pubmed
28794249
uniprot
proteins
pubmed
30500825
uniprot
proteins
pubmed
33712547
uniprot
proteins
pubmed
36977636
uniprot
proteins
pubmed
37117223
uniprot
proteins
pubmed
38339022
uniprot
proteins
pubmed
8062593
uniprot
proteins
sequence_length
2009
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:17928445}; Multi-pass membrane protein {ECO:0000269|PubMed:33712547}.
uniprot
proteins
transmembrane_region
TRANSMEM 129..146; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 153..177; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 189..205; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 214..235; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 246..269; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 398..423; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 769..787; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 798..820; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 831..849; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 855..874; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 892..912; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 966..992; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1219..1237; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1251..1276; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1279..1304; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1314..1332; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1346..1369; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1458..1483; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1542..1560; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1572..1593; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1602..1623; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1637..1655; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1666..1688; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD"; TRANSMEM 1760..1788; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000305|PubMed:33712547, ECO:0007744|PDB:7DTD
uniprot
proteins