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Sodium channel subunit beta-1

 SCN1B_HUMAN             Reviewed;         218 AA.
Q07699; Q5TZZ4; Q6TN97;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 1.
25-OCT-2017, entry version 173.
RecName: Full=Sodium channel subunit beta-1;
Flags: Precursor;
Name=SCN1B;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=8394762; DOI=10.1093/hmg/2.6.745;
McClatchey A.I., Cannon S.C., Slaugenhaupt S.A., Gusella J.F.;
"The cloning and expression of a sodium channel beta 1-subunit cDNA
from human brain.";
Hum. Mol. Genet. 2:745-749(1993).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND SUBCELLULAR LOCATION.
TISSUE=Heart, and Skeletal muscle;
PubMed=8125980;
Makita N., Bennett P.B. Jr., George A.L. Jr.;
"Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult
human skeletal muscle, heart, and brain is encoded by a single gene.";
J. Biol. Chem. 269:7571-7578(1994).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=7851891; DOI=10.1006/geno.1994.1551;
Makita N., Sloan-Brown K., Weghuis D.O., Ropers H.-H.,
George A.L. Jr.;
"Genomic organization and chromosomal assignment of the human voltage-
gated Na+ channel beta 1 subunit gene (SCN1B).";
Genomics 23:628-634(1994).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND TISSUE
SPECIFICITY.
PubMed=14622265; DOI=10.1046/j.1432-1033.2003.03878.x;
Qin N., D'Andrea M.R., Lubin M.L., Shafaee N., Codd E.E., Correa A.M.;
"Molecular cloning and functional expression of the human sodium
channel beta1B subunit, a novel splicing variant of the beta1
subunit.";
Eur. J. Biochem. 270:4762-4770(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Skeletal muscle;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NHLBI resequencing and genotyping service (RS&G);
Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
INTERACTION WITH SCN1A.
PubMed=15525788; DOI=10.1523/JNEUROSCI.2034-04.2004;
Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A.,
Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P.,
Montalenti E., Isom L.L., Goldin A.L., Meisler M.H.;
"A novel epilepsy mutation in the sodium channel SCN1A identifies a
cytoplasmic domain for beta subunit interaction.";
J. Neurosci. 24:10022-10034(2004).
[11]
INVOLVEMENT IN BRGDA5, AND VARIANT GLN-87.
PubMed=18464934; DOI=10.1172/JCI33891;
Watanabe H., Koopmann T.T., Le Scouarnec S., Yang T., Ingram C.R.,
Schott J.J., Demolombe S., Probst V., Anselme F., Escande D.,
Wiesfeld A.C., Pfeufer A., Kaab S., Wichmann H.E., Hasdemir C.,
Aizawa Y., Wilde A.A., Roden D.M., Bezzina C.R.;
"Sodium channel beta1 subunit mutations associated with Brugada
syndrome and cardiac conduction disease in humans.";
J. Clin. Invest. 118:2260-2268(2008).
[12]
SUBCELLULAR LOCATION, INVOLVEMENT IN EIEE52, VARIANT EIEE52 CYS-125,
AND CHARACTERIZATION OF VARIANT EIEE52 CYS-125.
PubMed=19710327; DOI=10.1523/JNEUROSCI.2475-09.2009;
Patino G.A., Claes L.R., Lopez-Santiago L.F., Slat E.A., Dondeti R.S.,
Chen C., O'Malley H.A., Gray C.B., Miyazaki H., Nukina N., Oyama F.,
De Jonghe P., Isom L.L.;
"A functional null mutation of SCN1B in a patient with Dravet
syndrome.";
J. Neurosci. 29:10764-10778(2009).
[13]
FUNCTION (ISOFORM 2), AND SUBCELLULAR LOCATION (ISOFORM 2).
PubMed=21994374; DOI=10.1523/JNEUROSCI.0361-11.2011;
Patino G.A., Brackenbury W.J., Bao Y., Lopez-Santiago L.F.,
O'Malley H.A., Chen C., Calhoun J.D., Lafreniere R.G., Cossette P.,
Rouleau G.A., Isom L.L.;
"Voltage-gated Na+ channel beta1B: a secreted cell adhesion molecule
involved in human epilepsy.";
J. Neurosci. 31:14577-14591(2011).
[14]
INTERACTION WITH SCN8A.
PubMed=26900580; DOI=10.1002/acn3.276;
Wagnon J.L., Barker B.S., Hounshell J.A., Haaxma C.A., Shealy A.,
Moss T., Parikh S., Messer R.D., Patel M.K., Meisler M.H.;
"Pathogenic mechanism of recurrent mutations of SCN8A in epileptic
encephalopathy.";
Ann. Clin. Transl. Neurol. 3:114-123(2016).
[15]
VARIANT GEFS+1 TRP-121.
PubMed=9697698; DOI=10.1038/1252;
Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr.,
Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R.,
Berkovic S.F., Mulley J.C.;
"Febrile seizures and generalized epilepsy associated with a mutation
in the Na(+)-channel beta-1 subunit gene SCN1B.";
Nat. Genet. 19:366-370(1998).
[16]
CHARACTERIZATION OF VARIANT GEFS+1 TRP-121, INTERACTION WITH SCN1A,
AND SUBCELLULAR LOCATION.
PubMed=17928445; DOI=10.1523/JNEUROSCI.3515-07.2007;
Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A.,
Franceschetti S., Annesi G., Wanke E., Mantegazza M.;
"Modulatory proteins can rescue a trafficking defective epileptogenic
Nav1.1 Na+ channel mutant.";
J. Neurosci. 27:11037-11046(2007).
[17]
VARIANTS ATFB13 HIS-85 AND ASN-153, AND CHARACTERIZATION OF VARIANTS
ATFB13 HIS-85 AND ASN-153.
PubMed=19808477; DOI=10.1161/CIRCEP.108.779181;
Watanabe H., Darbar D., Kaiser D.W., Jiramongkolchai K., Chopra S.,
Donahue B.S., Kannankeril P.J., Roden D.M.;
"Mutations in sodium channel beta1- and beta2-subunits associated with
atrial fibrillation.";
Circ. Arrhythm. Electrophysiol. 2:268-275(2009).
[18]
VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213.
PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x;
Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P.,
Sorrentino V.;
"Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150
Italian patients with idiopathic childhood epilepsies.";
Clin. Genet. 75:579-581(2009).
[19]
VARIANT GEFS+1 LEU-125.
PubMed=21040232; DOI=10.1111/j.1468-1331.2010.03216.x;
Fendri-Kriaa N., Kammoun F., Salem I.H., Kifagi C., Mkaouar-Rebai E.,
Hsairi I., Rebai A., Triki C., Fakhfakh F.;
"New mutation c.374C>T and a putative disease-associated haplotype
within SCN1B gene in Tunisian families with febrile seizures.";
Eur. J. Neurol. 18:695-702(2011).
[20]
VARIANT EIEE52 THR-106.
PubMed=23148524; DOI=10.1111/epi.12040;
Ogiwara I., Nakayama T., Yamagata T., Ohtani H., Mazaki E.,
Tsuchiya S., Inoue Y., Yamakawa K.;
"A homozygous mutation of voltage-gated sodium channel beta(I) gene
SCN1B in a patient with Dravet syndrome.";
Epilepsia 53:E200-E203(2012).
-!- FUNCTION: Crucial in the assembly, expression, and functional
modulation of the heterotrimeric complex of the sodium channel.
The subunit beta-1 can modulate multiple alpha subunit isoforms
from brain, skeletal muscle, and heart. Its association with NFASC
may target the sodium channels to the nodes of Ranvier of
developing axons and retain these channels at the nodes in mature
myelinated axons. {ECO:0000269|PubMed:14622265}.
-!- FUNCTION: Isoform 2: Cell adhesion molecule that plays a critical
role in neuronal migration and pathfinding during brain
development. Stimulates neurite outgrowth.
{ECO:0000269|PubMed:14622265}.
-!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion
conducting pore forming alpha-subunit regulated by one or more
beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently
associated with alpha, while beta-2 is covalently linked by
disulfide bonds. Beta-1 or beta-3 subunits associate with NFASC.
Associates with SCN10A (By similarity). Interacts with SCN1A
(PubMed:15525788, PubMed:17928445). Interacts with SCN8A
(PubMed:26900580). {ECO:0000250|UniProtKB:Q00954,
ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:17928445,
ECO:0000269|PubMed:26900580}.
-!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane
{ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:19710327,
ECO:0000305|PubMed:8125980}; Single-pass type I membrane protein
{ECO:0000255, ECO:0000305|PubMed:8125980}.
-!- SUBCELLULAR LOCATION: Isoform 2: Secreted
{ECO:0000269|PubMed:21994374}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=Beta-1;
IsoId=Q07699-1; Sequence=Displayed;
Name=2; Synonyms=Beta-1B, beta1A, beta1B;
IsoId=Q07699-2; Sequence=VSP_041982;
Note=Due to intron 3 retention.;
-!- TISSUE SPECIFICITY: The overall expression of isoforms 1 and 2 is
very similar. Isoform 1 is abundantly expressed in skeletal
muscle, heart and brain. Isoform 2 is highly expressed in brain
and skeletal muscle and present at a very low level in heart,
placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is
most abundant in the cerebellum, followed by the cerebral cortex
and occipital lobe, while isoform 1 levels are higher in the
cortex compared to the cerebellum. Isoform 2 is expressed in many
regions of the brain, including cerebellar Purkinje cells, cortex
pyramidal neurons and many of the neuronal fibers throughout the
brain (at protein level). Also detected in dorsal root ganglion,
in fibers of the spinal nerve and in cortical neurons and their
processes (at protein level). {ECO:0000269|PubMed:14622265}.
-!- DISEASE: Generalized epilepsy with febrile seizures plus 1
(GEFS+1) [MIM:604233]: 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:17928445, ECO:0000269|PubMed:21040232,
ECO:0000269|PubMed:9697698}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Brugada syndrome 5 (BRGDA5) [MIM:612838]: A
tachyarrhythmia characterized by right bundle branch block and ST
segment elevation on an electrocardiogram (ECG). It can cause the
ventricles to beat so fast that the blood is prevented from
circulating efficiently in the body. When this situation occurs,
the individual will faint and may die in a few minutes if the
heart is not reset. {ECO:0000269|PubMed:18464934}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]:
A familial form of atrial fibrillation, a common sustained cardiac
rhythm disturbance. Atrial fibrillation is characterized by
disorganized atrial electrical activity and ineffective atrial
contraction promoting blood stasis in the atria and reduces
ventricular filling. It can result in palpitations, syncope,
thromboembolic stroke, and congestive heart failure.
{ECO:0000269|PubMed:19808477}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Epileptic encephalopathy, early infantile, 52 (EIEE52)
[MIM:617350]: A form of epileptic encephalopathy, a heterogeneous
group of severe childhood 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. EIEE52
inheritance is autosomal recessive. {ECO:0000269|PubMed:19710327,
ECO:0000269|PubMed:23148524}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the sodium channel auxiliary subunit SCN1B
(TC 8.A.17) family. {ECO:0000305}.
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EMBL; L10338; AAA60391.1; -; mRNA.
EMBL; L16242; AAA61277.1; -; mRNA.
EMBL; U12193; AAB97608.1; -; Genomic_DNA.
EMBL; U12189; AAB97608.1; JOINED; Genomic_DNA.
EMBL; U12190; AAB97608.1; JOINED; Genomic_DNA.
EMBL; U12191; AAB97608.1; JOINED; Genomic_DNA.
EMBL; U12192; AAB97608.1; JOINED; Genomic_DNA.
EMBL; AY391842; AAR25552.1; -; mRNA.
EMBL; AK313279; BAG36087.1; -; mRNA.
EMBL; DQ677665; ABQ01236.1; -; Genomic_DNA.
EMBL; BT019923; AAV38726.1; -; mRNA.
EMBL; AC020907; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC067122; AAH67122.1; -; mRNA.
CCDS; CCDS12441.1; -. [Q07699-1]
CCDS; CCDS46047.1; -. [Q07699-2]
PIR; A55734; A55734.
RefSeq; NP_001028.1; NM_001037.4. [Q07699-1]
RefSeq; NP_001308534.1; NM_001321605.1.
RefSeq; NP_950238.1; NM_199037.4. [Q07699-2]
UniGene; Hs.436646; -.
ProteinModelPortal; Q07699; -.
SMR; Q07699; -.
BioGrid; 112229; 12.
STRING; 9606.ENSP00000396915; -.
DrugBank; DB00313; Valproic Acid.
DrugBank; DB00909; Zonisamide.
PhosphoSitePlus; Q07699; -.
BioMuta; SCN1B; -.
DMDM; 1705868; -.
PaxDb; Q07699; -.
PeptideAtlas; Q07699; -.
PRIDE; Q07699; -.
DNASU; 6324; -.
Ensembl; ENST00000262631; ENSP00000262631; ENSG00000105711. [Q07699-1]
Ensembl; ENST00000415950; ENSP00000396915; ENSG00000105711. [Q07699-2]
Ensembl; ENST00000638536; ENSP00000492022; ENSG00000105711. [Q07699-1]
GeneID; 6324; -.
KEGG; hsa:6324; -.
UCSC; uc002nxo.3; human. [Q07699-1]
CTD; 6324; -.
DisGeNET; 6324; -.
EuPathDB; HostDB:ENSG00000105711.10; -.
GeneCards; SCN1B; -.
GeneReviews; SCN1B; -.
HGNC; HGNC:10586; SCN1B.
MalaCards; SCN1B; -.
MIM; 600235; gene.
MIM; 604233; phenotype.
MIM; 612838; phenotype.
MIM; 615377; phenotype.
MIM; 617350; phenotype.
neXtProt; NX_Q07699; -.
OpenTargets; ENSG00000105711; -.
Orphanet; 130; Brugada syndrome.
Orphanet; 33069; Dravet syndrome.
Orphanet; 871; Familial progressive cardiac conduction defect.
Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
PharmGKB; PA302; -.
eggNOG; ENOG410IVI4; Eukaryota.
eggNOG; ENOG4111MS0; LUCA.
GeneTree; ENSGT00390000018560; -.
HOGENOM; HOG000276881; -.
HOVERGEN; HBG056582; -.
InParanoid; Q07699; -.
KO; K04845; -.
OMA; DNCAGVQ; -.
OrthoDB; EOG091G0OF7; -.
PhylomeDB; Q07699; -.
TreeFam; TF332097; -.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
GeneWiki; SCN1B; -.
GenomeRNAi; 6324; -.
PMAP-CutDB; Q07699; -.
PRO; PR:Q07699; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000105711; -.
CleanEx; HS_SCN1B; -.
ExpressionAtlas; Q07699; baseline and differential.
Genevisible; Q07699; HS.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0014704; C:intercalated disc; ISS:BHF-UCL.
GO; GO:0033268; C:node of Ranvier; ISS:BHF-UCL.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0030315; C:T-tubule; ISS:BHF-UCL.
GO; GO:0001518; C:voltage-gated sodium channel complex; IDA:BHF-UCL.
GO; GO:0019871; F:sodium channel inhibitor activity; ISS:BHF-UCL.
GO; GO:0017080; F:sodium channel regulator activity; IDA:BHF-UCL.
GO; GO:0005248; F:voltage-gated sodium channel activity; IDA:BHF-UCL.
GO; GO:0086006; F:voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:0086062; F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL.
GO; GO:0007411; P:axon guidance; ISS:BHF-UCL.
GO; GO:0061337; P:cardiac conduction; ISS:BHF-UCL.
GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
GO; GO:0021966; P:corticospinal neuron axon guidance; ISS:BHF-UCL.
GO; GO:0040011; P:locomotion; ISS:BHF-UCL.
GO; GO:0051899; P:membrane depolarization; IDA:BHF-UCL.
GO; GO:0086012; P:membrane depolarization during cardiac muscle cell action potential; ISS:BHF-UCL.
GO; GO:0086047; P:membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL.
GO; GO:0019227; P:neuronal action potential propagation; ISS:BHF-UCL.
GO; GO:0010976; P:positive regulation of neuron projection development; ISS:BHF-UCL.
GO; GO:0010765; P:positive regulation of sodium ion transport; IDA:BHF-UCL.
GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
GO; GO:2000649; P:regulation of sodium ion transmembrane transporter activity; IDA:BHF-UCL.
GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; ISS:BHF-UCL.
GO; GO:0046684; P:response to pyrethroid; IEA:Ensembl.
GO; GO:0035725; P:sodium ion transmembrane transport; IDA:BHF-UCL.
Gene3D; 2.60.40.10; -; 1.
InterPro; IPR036179; Ig-like_dom_sf.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR013106; Ig_V-set.
InterPro; IPR027098; Na_channel_b1/b3.
PANTHER; PTHR10546; PTHR10546; 1.
Pfam; PF07686; V-set; 1.
SUPFAM; SSF48726; SSF48726; 1.
1: Evidence at protein level;
Alternative splicing; Atrial fibrillation; Brugada syndrome;
Cell adhesion; Cell membrane; Complete proteome; Disease mutation;
Disulfide bond; Epilepsy; Glycoprotein; Immunoglobulin domain;
Ion channel; Ion transport; Membrane; Polymorphism;
Reference proteome; Secreted; Signal; Sodium; Sodium channel;
Sodium transport; Transmembrane; Transmembrane helix; Transport;
Voltage-gated channel.
SIGNAL 1 18 {ECO:0000255}.
CHAIN 19 218 Sodium channel subunit beta-1.
/FTId=PRO_0000014926.
TOPO_DOM 19 160 Extracellular. {ECO:0000255}.
TRANSMEM 161 182 Helical. {ECO:0000255}.
TOPO_DOM 183 218 Cytoplasmic. {ECO:0000255}.
DOMAIN 22 150 Ig-like C2-type.
CARBOHYD 93 93 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 110 110 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 114 114 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 135 135 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 40 121 {ECO:0000250}.
VAR_SEQ 150 218 ANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATE
TAAQENASEYLAITSESKENCTGVQVAE -> GESGAACPF
TVTHRRARWRDRWQAVDRTGWLCAWPANRPQQRAEGEGSSP
SCPLQLWPLFLSSPRRGQSMPVPHRRSGYRTQLCHLCCMTS
GRCLLSLSQRVVLGLPGIIIRCVSRGVV (in isoform
2). {ECO:0000303|PubMed:14622265}.
/FTId=VSP_041982.
VARIANT 25 25 D -> N (probable disease-associated
mutation found in a patient with
idiopathic childhood epilepsy; de novo
mutation; dbSNP:rs786205837).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_062523.
VARIANT 85 85 R -> H (in ATFB13; the mutant results in
highly reduced sodium currents and
altered channel gating when coexpressed
with SCN5A in a heterologous expression
system; dbSNP:rs16969925).
{ECO:0000269|PubMed:19808477}.
/FTId=VAR_070219.
VARIANT 87 87 E -> Q (probable disease-associated
mutation found in a patient with non-
specific cardiac conduction defects;
dbSNP:rs121434627).
{ECO:0000269|PubMed:18464934}.
/FTId=VAR_062524.
VARIANT 106 106 I -> T (in EIEE52; unknown pathological
significance).
{ECO:0000269|PubMed:23148524}.
/FTId=VAR_078019.
VARIANT 121 121 C -> W (in GEFS+1; can rescue the loss of
function and defective trafficking to
cell membrane phenotype of the SCN1A
variant Thr-1852; dbSNP:rs104894718).
{ECO:0000269|PubMed:17928445,
ECO:0000269|PubMed:9697698}.
/FTId=VAR_010165.
VARIANT 125 125 R -> C (in EIEE52; severely decreased
channel localization at the cell
membrane). {ECO:0000269|PubMed:19710327}.
/FTId=VAR_078020.
VARIANT 125 125 R -> L (in GEFS+1).
{ECO:0000269|PubMed:21040232}.
/FTId=VAR_067341.
VARIANT 138 138 V -> I (in dbSNP:rs72558029).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_062525.
VARIANT 153 153 D -> N (in ATFB13; the mutant results in
reduced sodium currents when coexpressed
with SCN5A in a heterologous expression
system; dbSNP:rs72550247).
{ECO:0000269|PubMed:19808477}.
/FTId=VAR_070220.
VARIANT 208 208 K -> I (in dbSNP:rs780958012).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_062526.
VARIANT 211 211 C -> Y (in dbSNP:rs150721582).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_062527.
VARIANT 213 213 G -> D (in dbSNP:rs201209882).
{ECO:0000269|PubMed:19522081}.
/FTId=VAR_062528.
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


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