LOCUS       NM_001037               1666 bp    mRNA    linear   PRI 28-APR-2025
DEFINITION  Homo sapiens sodium voltage-gated channel beta subunit 1 (SCN1B),
            transcript variant a, mRNA.
ACCESSION   NM_001037 XM_940055
VERSION     NM_001037.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1666)
  AUTHORS   Popa-Fotea,N.M., Oprescu,N., Scafa-Udriste,A. and Micheu,M.M.
  TITLE     Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in
            Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A
            Romanian Cohort Study
  JOURNAL   Int J Mol Sci 24 (24), 17244 (2023)
   PUBMED   38139087
  REMARK    GeneRIF: Impact of rs1805127 and rs55742440 Variants on Atrial
            Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial
            Fibrillation: A Romanian Cohort Study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1666)
  AUTHORS   Li,Y., Yuan,T., Huang,B., Zhou,F., Peng,C., Li,X., Qiu,Y., Yang,B.,
            Zhao,Y., Huang,Z. and Jiang,D.
  TITLE     Structure of human NaV1.6 channel reveals Na+ selectivity and pore
            blockade by 4,9-anhydro-tetrodotoxin
  JOURNAL   Nat Commun 14 (1), 1030 (2023)
   PUBMED   36823201
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1666)
  AUTHORS   Fan,X., Huang,J., Jin,X. and Yan,N.
  TITLE     Cryo-EM structure of human voltage-gated sodium channel Nav1.6
  JOURNAL   Proc Natl Acad Sci U S A 120 (5), e2220578120 (2023)
   PUBMED   36696443
REFERENCE   4  (bases 1 to 1666)
  AUTHORS   Alghamdi,M.A., Al-Eitan,L.N., Asiri,A., Rababa'h,D.M.,
            Alqahtani,S.A., Aldarami,M.S., Alsaeedi,M.A., Almuidh,R.S.,
            Alzahrani,A.A., Sakah,A.H., El Nashar,E.M., Otaif,M.Y. and Abdel
            Ghaffar,N.F.
  TITLE     Association of sodium voltage-gated channel genes polymorphisms
            with epilepsy risk and prognosis in the Saudi population
  JOURNAL   Ann Med 54 (1), 1938-1951 (2022)
   PUBMED   35801810
  REMARK    GeneRIF: Association of sodium voltage-gated channel genes
            polymorphisms with epilepsy risk and prognosis in the Saudi
            population.
REFERENCE   5  (bases 1 to 1666)
  AUTHORS   Qin,N., D'Andrea,M.R., Lubin,M.L., Shafaee,N., Codd,E.E. and
            Correa,A.M.
  TITLE     Molecular cloning and functional expression of the human sodium
            channel beta1B subunit, a novel splicing variant of the beta1
            subunit
  JOURNAL   Eur J Biochem 270 (23), 4762-4770 (2003)
   PUBMED   14622265
  REMARK    GeneRIF: identification and characterization of a novel splicing
            variant; functional studies in oocytes demonstrate that the beta1B
            subunit increases the ionic current when coexpressed with the
            tetrodotoxin sensitive channel, NaV1.2
REFERENCE   6  (bases 1 to 1666)
  AUTHORS   Makita,N., Sloan-Brown,K., Weghuis,D.O., Ropers,H.H. and
            George,A.L. Jr.
  TITLE     Genomic organization and chromosomal assignment of the human
            voltage-gated Na+ channel beta 1 subunit gene (SCN1B)
  JOURNAL   Genomics 23 (3), 628-634 (1994)
   PUBMED   7851891
REFERENCE   7  (bases 1 to 1666)
  AUTHORS   Makita,N., Bennett,P.B. Jr. and George,A.L. Jr.
  TITLE     Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult
            human skeletal muscle, heart, and brain is encoded by a single gene
  JOURNAL   J Biol Chem 269 (10), 7571-7578 (1994)
   PUBMED   8125980
REFERENCE   8  (bases 1 to 1666)
  AUTHORS   McClatchey,A.I., Cannon,S.C., Slaugenhaupt,S.A. and Gusella,J.F.
  TITLE     The cloning and expression of a sodium channel beta 1-subunit cDNA
            from human brain
  JOURNAL   Hum Mol Genet 2 (6), 745-749 (1993)
   PUBMED   8394762
REFERENCE   9  (bases 1 to 1666)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (bases 1 to 1666)
  AUTHORS   Hartshorne,R.P. and Catterall,W.A.
  TITLE     The sodium channel from rat brain. Purification and subunit
            composition
  JOURNAL   J Biol Chem 259 (3), 1667-1675 (1984)
   PUBMED   6319405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020907.6 and BC067122.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001037.4.
            
            Summary: Voltage-gated sodium channels are heteromeric proteins
            that function in the generation and propagation of action
            potentials in muscle and neuronal cells. They are composed of one
            alpha and two beta subunits, where the alpha subunit provides
            channel activity and the beta-1 subunit modulates the kinetics of
            channel inactivation. This gene encodes a sodium channel beta-1
            subunit. Mutations in this gene result in generalized epilepsy with
            febrile seizures plus, Brugada syndrome 5, and defects in cardiac
            conduction. Multiple transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Oct
            2009].
            
            Transcript Variant: This variant (a) represents the longer
            transcript but encodes the shorter isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.62069.1,
                                           SRR3476690.943038.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262631.11/ ENSP00000262631.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-218               AC020907.6         43973-44190
            219-1666            BC067122.1         1-1448
FEATURES             Location/Qualifiers
     source          1..1666
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1666
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="sodium voltage-gated channel beta subunit 1"
                     /db_xref="GeneID:6324"
                     /db_xref="HGNC:HGNC:10586"
                     /db_xref="MIM:600235"
     exon            1..391
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..1008
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="isoform a precursor is encoded by transcript
                     variant a; sodium channel subunit beta-1; sodium channel,
                     voltage-gated, type I, beta; sodium channel, voltage
                     gated, type I beta subunit; sodium channel regulatory
                     subunit beta-1"
                     /codon_start=1
                     /product="sodium channel regulatory subunit beta-1 isoform
                     a precursor"
                     /protein_id="NP_001028.1"
                     /db_xref="CCDS:CCDS12441.1"
                     /db_xref="GeneID:6324"
                     /db_xref="HGNC:HGNC:10586"
                     /db_xref="MIM:600235"
                     /translation="MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCK
                     RRSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQ
                     DLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSE
                     IMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
                     "
     exon            392..558
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     exon            559..799
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     exon            800..941
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1013
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1666
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1646..1651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="hexamer: AATAAA"
     polyA_site      1666
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcagg agaccgcggt ccgcgcccga gcgcgcccga gccggagcgg gaccggggtc
       61 ggtgcaccta gcggatgtgc ccggctgcgc gcgccagcgc agcagcccga gcagcggccg
      121 ccgcccgcgc ggcggggatg cccggacgcc gggccccggg gctgggcccc cggcggtaac
      181 cggagcgggg gggccgcgcc ccccctcctc ccccctcgcc ggtcccagag ccgcagctgc
      241 tgcgcccgcg cgctcccggg gacattctaa ccgccgccag gtcccgccgc ctctcgcccc
      301 gctattaata ccggcggccc gggagggggg cgcagcacgc gccgcgcagc catggggagg
      361 ctgctggcct tagtggtcgg cgcggcactg gtgtcctcag cctgcggggg ctgcgtggag
      421 gtggactcgg agaccgaggc cgtgtatggg atgaccttca aaattctttg catctcctgc
      481 aagcgccgca gcgagaccaa cgctgagacc ttcaccgagt ggaccttccg ccagaagggc
      541 actgaggagt ttgtcaagat cctgcgctat gagaatgagg tgttgcagct ggaggaggat
      601 gagcgcttcg agggccgcgt ggtgtggaat ggcagccggg gcaccaaaga cctgcaggat
      661 ctgtctatct tcatcaccaa tgtcacctac aaccactcgg gcgactacga gtgccacgtc
      721 taccgcctgc tcttcttcga aaactacgag cacaacacca gcgtcgtcaa gaagatccac
      781 attgaggtag tggacaaagc caacagagac atggcatcca tcgtgtctga gatcatgatg
      841 tatgtgctca ttgtggtgtt gaccatatgg ctcgtggcag agatgattta ctgctacaag
      901 aagatcgctg ccgccacgga gactgctgca caggagaatg cctcggaata cctggccatc
      961 acctctgaaa gcaaagagaa ctgcacgggc gtccaggtgg ccgaatagcc ctggccctgg
     1021 gccccgcctc aaggaagagc cagccgtaat ggggactctc caggcaccgc ctgcccccag
     1081 cgtgggggtg gccactcctg ggccccagaa agcctcagag tcctgccgac ggagccactg
     1141 gggtgggagg gggcaggggg cttggctcgc acccccactt tcgcctcctc cagctcctgc
     1201 cccgccggcc gcgcaccgcc atgcatgatg ggtaaagcaa tactgccgct gcccccaccc
     1261 tgcttctgct gcctgtttgg ggaggggggc ggtgaggtgg gggcagcggc cccgcacccc
     1321 tcctccttgc tgatttgcac acattggccg cttcagacac gcacttctgg ggccagcccc
     1381 tccccgcctc ctccctgcct ggcggcaggg gtcgcgatga tgggctggag cagtttgggg
     1441 cagggggttc tgggacccac tccgactccc cctccccggc atcatttccc ctcccgcttc
     1501 ctccggctgg acctggggtc ccccctccct gtaatgcact cctgccccgg cccaacctcg
     1561 ccctctctca ccagccttga actgtggcca cctagaaagg ggcccattca gcctcgtctc
     1621 tttacagaag tagttttgtt catgaaataa agactcttgg acttga
//
