ID SCN1B_HUMAN Reviewed; 218 AA. AC Q07699; Q5TZZ4; Q6TN97; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-1996, sequence version 1. DT 15-FEB-2017, entry version 167. DE RecName: Full=Sodium channel subunit beta-1; DE Flags: Precursor; GN Name=SCN1B; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Brain; RX PubMed=8394762; DOI=10.1093/hmg/2.6.745; RA McClatchey A.I., Cannon S.C., Slaugenhaupt S.A., Gusella J.F.; RT "The cloning and expression of a sodium channel beta 1-subunit cDNA RT from human brain."; RL Hum. Mol. Genet. 2:745-749(1993). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND SUBCELLULAR LOCATION. RC TISSUE=Heart, and Skeletal muscle; RX PubMed=8125980; RA Makita N., Bennett P.B. Jr., George A.L. Jr.; RT "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult RT human skeletal muscle, heart, and brain is encoded by a single gene."; RL J. Biol. Chem. 269:7571-7578(1994). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RC TISSUE=Placenta; RX PubMed=7851891; DOI=10.1006/geno.1994.1551; RA Makita N., Sloan-Brown K., Weghuis D.O., Ropers H.-H., RA George A.L. Jr.; RT "Genomic organization and chromosomal assignment of the human voltage- RT gated Na+ channel beta 1 subunit gene (SCN1B)."; RL Genomics 23:628-634(1994). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND TISSUE RP SPECIFICITY. RX PubMed=14622265; DOI=10.1046/j.1432-1033.2003.03878.x; RA Qin N., D'Andrea M.R., Lubin M.L., Shafaee N., Codd E.E., Correa A.M.; RT "Molecular cloning and functional expression of the human sodium RT channel beta1B subunit, a novel splicing variant of the beta1 RT subunit."; RL Eur. J. Biochem. 270:4762-4770(2003). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Skeletal muscle; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor RT vector."; RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15057824; DOI=10.1038/nature02399; RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., RA Rubin E.M., Lucas S.M.; RT "The DNA sequence and biology of human chromosome 19."; RL Nature 428:529-535(2004). RN [8] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RG NHLBI resequencing and genotyping service (RS&G); RL Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases. RN [9] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [10] RP INTERACTION WITH SCN1A. RX PubMed=15525788; DOI=10.1523/JNEUROSCI.2034-04.2004; RA Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., RA Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P., RA Montalenti E., Isom L.L., Goldin A.L., Meisler M.H.; RT "A novel epilepsy mutation in the sodium channel SCN1A identifies a RT cytoplasmic domain for beta subunit interaction."; RL J. Neurosci. 24:10022-10034(2004). RN [11] RP INVOLVEMENT IN BRGDA5, AND VARIANT GLN-87. RX PubMed=18464934; DOI=10.1172/JCI33891; RA Watanabe H., Koopmann T.T., Le Scouarnec S., Yang T., Ingram C.R., RA Schott J.J., Demolombe S., Probst V., Anselme F., Escande D., RA Wiesfeld A.C., Pfeufer A., Kaab S., Wichmann H.E., Hasdemir C., RA Aizawa Y., Wilde A.A., Roden D.M., Bezzina C.R.; RT "Sodium channel beta1 subunit mutations associated with Brugada RT syndrome and cardiac conduction disease in humans."; RL J. Clin. Invest. 118:2260-2268(2008). RN [12] RP FUNCTION (ISOFORM 2), AND SUBCELLULAR LOCATION (ISOFORM 2). RX PubMed=21994374; DOI=10.1523/JNEUROSCI.0361-11.2011; RA Patino G.A., Brackenbury W.J., Bao Y., Lopez-Santiago L.F., RA O'Malley H.A., Chen C., Calhoun J.D., Lafreniere R.G., Cossette P., RA Rouleau G.A., Isom L.L.; RT "Voltage-gated Na+ channel beta1B: a secreted cell adhesion molecule RT involved in human epilepsy."; RL J. Neurosci. 31:14577-14591(2011). RN [13] RP INTERACTION WITH SCN8A. RX PubMed=26900580; DOI=10.1002/acn3.276; RA Wagnon J.L., Barker B.S., Hounshell J.A., Haaxma C.A., Shealy A., RA Moss T., Parikh S., Messer R.D., Patel M.K., Meisler M.H.; RT "Pathogenic mechanism of recurrent mutations of SCN8A in epileptic RT encephalopathy."; RL Ann. Clin. Transl. Neurol. 3:114-123(2016). RN [14] RP VARIANT GEFS+1 TRP-121. RX PubMed=9697698; DOI=10.1038/1252; RA Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr., RA Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R., RA Berkovic S.F., Mulley J.C.; RT "Febrile seizures and generalized epilepsy associated with a mutation RT in the Na(+)-channel beta-1 subunit gene SCN1B."; RL Nat. Genet. 19:366-370(1998). RN [15] RP CHARACTERIZATION OF VARIANT GEFS+1 TRP-121, INTERACTION WITH SCN1A, RP AND SUBCELLULAR LOCATION. RX PubMed=17928445; DOI=10.1523/JNEUROSCI.3515-07.2007; RA Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A., RA Franceschetti S., Annesi G., Wanke E., Mantegazza M.; RT "Modulatory proteins can rescue a trafficking defective epileptogenic RT Nav1.1 Na+ channel mutant."; RL J. Neurosci. 27:11037-11046(2007). RN [16] RP VARIANTS ATFB13 HIS-85 AND ASN-153, AND CHARACTERIZATION OF VARIANTS RP ATFB13 HIS-85 AND ASN-153. RX PubMed=19808477; DOI=10.1161/CIRCEP.108.779181; RA Watanabe H., Darbar D., Kaiser D.W., Jiramongkolchai K., Chopra S., RA Donahue B.S., Kannankeril P.J., Roden D.M.; RT "Mutations in sodium channel beta1- and beta2-subunits associated with RT atrial fibrillation."; RL Circ. Arrhythm. Electrophysiol. 2:268-275(2009). RN [17] RP VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213. RX PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x; RA Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., RA Sorrentino V.; RT "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 RT Italian patients with idiopathic childhood epilepsies."; RL Clin. Genet. 75:579-581(2009). RN [18] RP VARIANT GEFS+1 LEU-125. RX PubMed=21040232; DOI=10.1111/j.1468-1331.2010.03216.x; RA Fendri-Kriaa N., Kammoun F., Salem I.H., Kifagi C., Mkaouar-Rebai E., RA Hsairi I., Rebai A., Triki C., Fakhfakh F.; RT "New mutation c.374C>T and a putative disease-associated haplotype RT within SCN1B gene in Tunisian families with febrile seizures."; RL Eur. J. Neurol. 18:695-702(2011). CC -!- FUNCTION: Crucial in the assembly, expression, and functional CC modulation of the heterotrimeric complex of the sodium channel. CC The subunit beta-1 can modulate multiple alpha subunit isoforms CC from brain, skeletal muscle, and heart. Its association with CC neurofascin may target the sodium channels to the nodes of Ranvier CC of developing axons and retain these channels at the nodes in CC mature myelinated axons. {ECO:0000269|PubMed:14622265}. CC -!- FUNCTION: Isoform 2: Cell adhesion molecule that plays a critical CC role in neuronal migration and pathfinding during brain CC development. Stimulates neurite outgrowth. CC {ECO:0000269|PubMed:14622265}. CC -!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion CC conducting pore forming alpha-subunit regulated by one or more CC beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently CC associated with alpha, while beta-2 is covalently linked by CC disulfide bonds. Beta-1 or beta-3 subunits associate with CC neurofascin. Associates with SCN10A (By similarity). Interacts CC with SCN1A (PubMed:15525788, PubMed:17928445). Interacts with CC SCN8A (PubMed:26900580). {ECO:0000250|UniProtKB:Q00954, CC ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:17928445, CC ECO:0000269|PubMed:26900580}. CC -!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane CC {ECO:0000269|PubMed:17928445, ECO:0000305|PubMed:8125980}; Single- CC pass type I membrane protein {ECO:0000255, CC ECO:0000305|PubMed:8125980}. CC -!- SUBCELLULAR LOCATION: Isoform 2: Secreted CC {ECO:0000269|PubMed:21994374}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; Synonyms=Beta-1; CC IsoId=Q07699-1; Sequence=Displayed; CC Name=2; Synonyms=Beta-1B, beta1A, beta1B; CC IsoId=Q07699-2; Sequence=VSP_041982; CC Note=Due to intron 3 retention.; CC -!- TISSUE SPECIFICITY: The overall expression of isoforms 1 and 2 is CC very similar. Isoform 1 is abundantly expressed in skeletal CC muscle, heart and brain. Isoform 2 is highly expressed in brain CC and skeletal muscle and present at a very low level in heart, CC placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is CC most abundant in the cerebellum, followed by the cerebral cortex CC and occipital lobe, while isoform 1 levels are higher in the CC cortex compared to the cerebellum. Isoform 2 is expressed in many CC regions of the brain, including cerebellar Purkinje cells, cortex CC pyramidal neurons and many of the neuronal fibers throughout the CC brain (at protein level). Also detected in dorsal root ganglion, CC in fibers of the spinal nerve and in cortical neurons and their CC processes (at protein level). {ECO:0000269|PubMed:14622265}. CC -!- DISEASE: Generalized epilepsy with febrile seizures plus 1 CC (GEFS+1) [MIM:604233]: A rare autosomal dominant, familial CC condition with incomplete penetrance and large intrafamilial CC variability. Patients display febrile seizures persisting CC sometimes beyond the age of 6 years and/or a variety of afebrile CC seizure types. This disease combines febrile seizures, generalized CC seizures often precipitated by fever at age 6 years or more, and CC partial seizures, with a variable degree of severity. CC {ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:21040232, CC ECO:0000269|PubMed:9697698}. Note=The disease is caused by CC mutations affecting the gene represented in this entry. CC -!- DISEASE: Brugada syndrome 5 (BRGDA5) [MIM:612838]: A CC tachyarrhythmia characterized by right bundle branch block and ST CC segment elevation on an electrocardiogram (ECG). It can cause the CC ventricles to beat so fast that the blood is prevented from CC circulating efficiently in the body. When this situation occurs, CC the individual will faint and may die in a few minutes if the CC heart is not reset. {ECO:0000269|PubMed:18464934}. Note=The CC disease is caused by mutations affecting the gene represented in CC this entry. CC -!- DISEASE: Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: CC A familial form of atrial fibrillation, a common sustained cardiac CC rhythm disturbance. Atrial fibrillation is characterized by CC disorganized atrial electrical activity and ineffective atrial CC contraction promoting blood stasis in the atria and reduces CC ventricular filling. It can result in palpitations, syncope, CC thromboembolic stroke, and congestive heart failure. CC {ECO:0000269|PubMed:19808477}. Note=The disease is caused by CC mutations affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the sodium channel auxiliary subunit SCN1B CC (TC 8.A.17) family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L10338; AAA60391.1; -; mRNA. DR EMBL; L16242; AAA61277.1; -; mRNA. DR EMBL; U12193; AAB97608.1; -; Genomic_DNA. DR EMBL; U12189; AAB97608.1; JOINED; Genomic_DNA. DR EMBL; U12190; AAB97608.1; JOINED; Genomic_DNA. DR EMBL; U12191; AAB97608.1; JOINED; Genomic_DNA. DR EMBL; U12192; AAB97608.1; JOINED; Genomic_DNA. DR EMBL; AY391842; AAR25552.1; -; mRNA. DR EMBL; AK313279; BAG36087.1; -; mRNA. DR EMBL; DQ677665; ABQ01236.1; -; Genomic_DNA. DR EMBL; BT019923; AAV38726.1; -; mRNA. DR EMBL; AC020907; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC067122; AAH67122.1; -; mRNA. DR CCDS; CCDS12441.1; -. [Q07699-1] DR CCDS; CCDS46047.1; -. [Q07699-2] DR PIR; A55734; A55734. DR RefSeq; NP_001028.1; NM_001037.4. [Q07699-1] DR RefSeq; NP_001308534.1; NM_001321605.1. DR RefSeq; NP_950238.1; NM_199037.4. [Q07699-2] DR UniGene; Hs.436646; -. DR ProteinModelPortal; Q07699; -. DR SMR; Q07699; -. DR BioGrid; 112229; 2. DR STRING; 9606.ENSP00000396915; -. DR DrugBank; DB00313; Valproic Acid. DR DrugBank; DB00909; Zonisamide. DR PhosphoSitePlus; Q07699; -. DR BioMuta; SCN1B; -. DR DMDM; 1705868; -. DR PaxDb; Q07699; -. DR PeptideAtlas; Q07699; -. DR PRIDE; Q07699; -. DR DNASU; 6324; -. DR Ensembl; ENST00000262631; ENSP00000262631; ENSG00000105711. [Q07699-1] DR Ensembl; ENST00000415950; ENSP00000396915; ENSG00000105711. [Q07699-2] DR GeneID; 6324; -. DR KEGG; hsa:6324; -. DR UCSC; uc002nxo.3; human. [Q07699-1] DR CTD; 6324; -. DR DisGeNET; 6324; -. DR GeneCards; SCN1B; -. DR GeneReviews; SCN1B; -. DR HGNC; HGNC:10586; SCN1B. DR MalaCards; SCN1B; -. DR MIM; 600235; gene. DR MIM; 604233; phenotype. DR MIM; 612838; phenotype. DR MIM; 615377; phenotype. DR neXtProt; NX_Q07699; -. DR OpenTargets; ENSG00000105711; -. DR Orphanet; 130; Brugada syndrome. DR Orphanet; 33069; Dravet syndrome. DR Orphanet; 871; Familial progressive cardiac conduction defect. DR Orphanet; 36387; Generalized epilepsy with febrile seizures-plus. DR PharmGKB; PA302; -. DR eggNOG; ENOG410IVI4; Eukaryota. DR eggNOG; ENOG4111MS0; LUCA. DR GeneTree; ENSGT00390000018560; -. DR HOGENOM; HOG000276881; -. DR HOVERGEN; HBG056582; -. DR InParanoid; Q07699; -. DR KO; K04845; -. DR OMA; ISCKKRS; -. DR OrthoDB; EOG090A0B7L; -. DR PhylomeDB; Q07699; -. DR TreeFam; TF332097; -. DR Reactome; R-HSA-445095; Interaction between L1 and Ankyrins. DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation. DR GeneWiki; SCN1B; -. DR GenomeRNAi; 6324; -. DR PMAP-CutDB; Q07699; -. DR PRO; PR:Q07699; -. DR Proteomes; UP000005640; Chromosome 19. DR Bgee; ENSG00000105711; -. DR CleanEx; HS_SCN1B; -. DR ExpressionAtlas; Q07699; baseline and differential. DR Genevisible; Q07699; HS. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0014704; C:intercalated disc; ISS:BHF-UCL. DR GO; GO:0033268; C:node of Ranvier; ISS:BHF-UCL. DR GO; GO:0005886; C:plasma membrane; TAS:Reactome. DR GO; GO:0030315; C:T-tubule; ISS:BHF-UCL. DR GO; GO:0001518; C:voltage-gated sodium channel complex; IDA:BHF-UCL. DR GO; GO:0019871; F:sodium channel inhibitor activity; ISS:BHF-UCL. DR GO; GO:0017080; F:sodium channel regulator activity; IDA:BHF-UCL. DR GO; GO:0005248; F:voltage-gated sodium channel activity; IDA:BHF-UCL. DR GO; GO:0086006; F:voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL. DR GO; GO:0086062; F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL. DR GO; GO:0007411; P:axon guidance; ISS:BHF-UCL. DR GO; GO:0061337; P:cardiac conduction; ISS:BHF-UCL. DR GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL. DR GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL. DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW. DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc. DR GO; GO:0021966; P:corticospinal neuron axon guidance; ISS:BHF-UCL. DR GO; GO:0040011; P:locomotion; ISS:BHF-UCL. DR GO; GO:0051899; P:membrane depolarization; IDA:BHF-UCL. DR GO; GO:0086012; P:membrane depolarization during cardiac muscle cell action potential; ISS:BHF-UCL. DR GO; GO:0086047; P:membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL. DR GO; GO:0019227; P:neuronal action potential propagation; ISS:BHF-UCL. DR GO; GO:0010976; P:positive regulation of neuron projection development; ISS:BHF-UCL. DR GO; GO:0010765; P:positive regulation of sodium ion transport; IDA:BHF-UCL. DR GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL. DR GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL. DR GO; GO:2000649; P:regulation of sodium ion transmembrane transporter activity; IDA:BHF-UCL. DR GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; ISS:BHF-UCL. DR GO; GO:0046684; P:response to pyrethroid; IEA:Ensembl. DR GO; GO:0035725; P:sodium ion transmembrane transport; IDA:BHF-UCL. DR Gene3D; 2.60.40.10; -; 1. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR013106; Ig_V-set. DR InterPro; IPR027098; Na_channel_b1/b3. DR PANTHER; PTHR10546; PTHR10546; 1. DR Pfam; PF07686; V-set; 1. DR SUPFAM; SSF48726; SSF48726; 1. PE 1: Evidence at protein level; KW Alternative splicing; Atrial fibrillation; Brugada syndrome; KW Cell adhesion; Cell membrane; Complete proteome; Disease mutation; KW Disulfide bond; Epilepsy; Glycoprotein; Immunoglobulin domain; KW Ion channel; Ion transport; Membrane; Polymorphism; KW Reference proteome; Secreted; Signal; Sodium; Sodium channel; KW Sodium transport; Transmembrane; Transmembrane helix; Transport; KW Voltage-gated channel. FT SIGNAL 1 18 {ECO:0000255}. FT CHAIN 19 218 Sodium channel subunit beta-1. FT /FTId=PRO_0000014926. FT TOPO_DOM 19 160 Extracellular. {ECO:0000255}. FT TRANSMEM 161 182 Helical. {ECO:0000255}. FT TOPO_DOM 183 218 Cytoplasmic. {ECO:0000255}. FT DOMAIN 22 150 Ig-like C2-type. FT CARBOHYD 93 93 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 110 110 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 114 114 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 135 135 N-linked (GlcNAc...). {ECO:0000255}. FT DISULFID 40 121 {ECO:0000250}. FT VAR_SEQ 150 218 ANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATE FT TAAQENASEYLAITSESKENCTGVQVAE -> GESGAACPF FT TVTHRRARWRDRWQAVDRTGWLCAWPANRPQQRAEGEGSSP FT SCPLQLWPLFLSSPRRGQSMPVPHRRSGYRTQLCHLCCMTS FT GRCLLSLSQRVVLGLPGIIIRCVSRGVV (in isoform FT 2). {ECO:0000303|PubMed:14622265}. FT /FTId=VSP_041982. FT VARIANT 25 25 D -> N (probable disease-associated FT mutation found in a patient with FT idiopathic childhood epilepsy; de novo FT mutation; dbSNP:rs786205837). FT {ECO:0000269|PubMed:19522081}. FT /FTId=VAR_062523. FT VARIANT 85 85 R -> H (in ATFB13; the mutant results in FT highly reduced sodium currents and FT altered channel gating when coexpressed FT with SCN5A in a heterologous expression FT system; dbSNP:rs16969925). FT {ECO:0000269|PubMed:19808477}. FT /FTId=VAR_070219. FT VARIANT 87 87 E -> Q (probable disease-associated FT mutation found in a patient with non- FT specific cardiac conduction defects; FT dbSNP:rs121434627). FT {ECO:0000269|PubMed:18464934}. FT /FTId=VAR_062524. FT VARIANT 121 121 C -> W (in GEFS+1; can rescue the loss of FT function and defective trafficking to FT cell membrane phenotype of the SCN1A FT variant Thr-1852; dbSNP:rs104894718). FT {ECO:0000269|PubMed:17928445, FT ECO:0000269|PubMed:9697698}. FT /FTId=VAR_010165. FT VARIANT 125 125 R -> L (in GEFS+1). FT {ECO:0000269|PubMed:21040232}. FT /FTId=VAR_067341. FT VARIANT 138 138 V -> I (in dbSNP:rs72558029). FT {ECO:0000269|PubMed:19522081}. FT /FTId=VAR_062525. FT VARIANT 153 153 D -> N (in ATFB13; the mutant results in FT reduced sodium currents when coexpressed FT with SCN5A in a heterologous expression FT system; dbSNP:rs72550247). FT {ECO:0000269|PubMed:19808477}. FT /FTId=VAR_070220. FT VARIANT 208 208 K -> I (in dbSNP:rs780958012). FT {ECO:0000269|PubMed:19522081}. FT /FTId=VAR_062526. FT VARIANT 211 211 C -> Y (in dbSNP:rs150721582). FT {ECO:0000269|PubMed:19522081}. FT /FTId=VAR_062527. FT VARIANT 213 213 G -> D (in dbSNP:rs201209882). FT {ECO:0000269|PubMed:19522081}. FT /FTId=VAR_062528. SQ SEQUENCE 218 AA; 24707 MW; 09B812FA3F9E9018 CRC64; MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN AETFTEWTFR QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD LQDLSIFITN VTYNHSGDYE CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA NRDMASIVSE IMMYVLIVVL TIWLVAEMIY CYKKIAAATE TAAQENASEY LAITSESKEN CTGVQVAE //