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    SCN5A sodium voltage-gated channel alpha subunit 5 [ Homo sapiens (human) ]

    Gene ID: 6331, updated on 7-Sep-2023

    Summary

    Official Symbol
    SCN5Aprovided by HGNC
    Official Full Name
    sodium voltage-gated channel alpha subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:10593
    See related
    Ensembl:ENSG00000183873 MIM:600163; AllianceGenome:HGNC:10593
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5
    Summary
    The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
    Expression
    Restricted expression toward heart (RPKM 17.6) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCN5A in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38548062..38649687, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38554106..38661891, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38589553..38691178, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2266 Neighboring gene exo/endonuclease G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38583605-38584141 Neighboring gene VISTA enhancer hs2267 Neighboring gene ribosomal protein L18a pseudogene 7 Neighboring gene D-dopachrome tautomerase pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38589324-38590114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38590115-38590903 Neighboring gene VISTA enhancer hs2177 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:38623245-38624228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38656451-38656951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38669791-38670290 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:38682299-38683042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38684220-38684730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38684731-38685239 Neighboring gene VISTA enhancer hs2268 Neighboring gene sodium voltage-gated channel alpha subunit 10 Neighboring gene VISTA enhancer hs2619 Neighboring gene uncharacterized LOC105377034 Neighboring gene uncharacterized LOC107986042

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SCN5A that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Atrial fibrillation, familial, 10
    MedGen: C3151464 OMIM: 614022 GeneReviews: Not available
    Compare labs
    Brugada syndrome 1
    MedGen: C4551804 OMIM: 601144 GeneReviews: Brugada Syndrome
    Compare labs
    Dilated cardiomyopathy 1E Compare labs
    Long QT syndrome
    MedGen: C0023976 GeneReviews: Long QT Syndrome
    Compare labs
    Long QT syndrome 3
    MedGen: C1859062 OMIM: 603830 GeneReviews: Long QT Syndrome
    Compare labs
    Progressive familial heart block, type 1A
    MedGen: C1879286 OMIM: 113900 GeneReviews: Not available
    Compare labs
    Sick sinus syndrome 1
    MedGen: C1837845 OMIM: 608567 GeneReviews: Not available
    Compare labs
    SUDDEN INFANT DEATH SYNDROME
    MedGen: C0038644 OMIM: 272120 GeneReviews: Not available
    Compare labs
    Ventricular fibrillation, paroxysmal familial, type 1
    MedGen: C2751898 OMIM: 603829 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-06-08)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    EBI GWAS Catalog
    Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genetic determinants of P wave duration and PR segment.
    EBI GWAS Catalog
    Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
    EBI GWAS Catalog
    Genome-wide association studies of the PR interval in African Americans.
    EBI GWAS Catalog
    Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
    EBI GWAS Catalog
    Genome-wide association study of PR interval.
    EBI GWAS Catalog
    Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
    EBI GWAS Catalog
    Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
    EBI GWAS Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ankyrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables high voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables nitric-oxide synthase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated sodium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in Purkinje myocyte action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in bundle of His cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in AV node cell to bundle of His cell communication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brainstem development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bundle of His cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac conduction system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac ventricle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cerebellum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization during AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during Purkinje myocyte cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization during atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during bundle of His cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to denervation involved in regulation of muscle adaptation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telencephalon development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with caveola TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in lateral plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of voltage-gated sodium channel complex IC
    Inferred by Curator
    more info
    PubMed 
    part_of voltage-gated sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel protein type 5 subunit alpha
    Names
    cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit
    sodium channel protein cardiac muscle subunit alpha
    sodium channel, voltage-gated, type V, alpha subunit
    voltage-gated sodium channel subunit alpha Nav1.5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008934.1 RefSeqGene

      Range
      5000..106611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_289

    mRNA and Protein(s)

    1. NM_000335.5NP_000326.2  sodium channel protein type 5 subunit alpha isoform b

      See identical proteins and their annotated locations for NP_000326.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different acceptor splice site at one of the coding exons, 3 nt downstream of that used by transcript variant 1. This results in an isoform (b) shorter by just a single aa, compared to isoform a.
      Source sequence(s)
      AB158469, AF482988, AP006241, AY148488, BC051374, BU845010
      Consensus CDS
      CCDS46797.1
      UniProtKB/Swiss-Prot
      Q14524
      UniProtKB/TrEMBL
      Q86V90, S5NU80
      Related
      ENSP00000398266.2, ENST00000423572.7
      Conserved Domains (5) summary
      cd13433
      Location:14701522
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12211478
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531199
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17911848
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. NM_001099404.2NP_001092874.1  sodium channel protein type 5 subunit alpha isoform c

      See identical proteins and their annotated locations for NP_001092874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as hB1, uses an alternate, duplicated coding exon compared to transcript variant 1, resulting in an isoform (c) of the same size, but differing in a few internal aa compared to isoform a.
      Source sequence(s)
      AB158469, AB208866, AF482988, AP006241, AY038064, BU845010, EF629346
      Consensus CDS
      CCDS46799.1
      UniProtKB/Swiss-Prot
      Q14524
      UniProtKB/TrEMBL
      H9KVD2, S5NU80
      Related
      ENSP00000410257.1, ENST00000413689.6
      Conserved Domains (5) summary
      cd13433
      Location:14711523
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12221479
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17921849
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    3. NM_001099405.2NP_001092875.1  sodium channel protein type 5 subunit alpha isoform d

      See identical proteins and their annotated locations for NP_001092875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as hB2, uses an alternate, duplicated coding exon, and is missing another in-frame, downstream coding exon compared to transcript variant 1, resulting in a shorter isoform (d) missing an internal segment and differing in a few aa, compared to isoform a.
      Source sequence(s)
      AB158469, AB208866, AF482988, AP006241, AY038064, BU845010, EF629347
      Consensus CDS
      CCDS46798.1
      UniProtKB/Swiss-Prot
      Q14524
      UniProtKB/TrEMBL
      E9PG18, S5NU80
      Related
      ENSP00000398962.2, ENST00000414099.6
      Conserved Domains (5) summary
      cd13433
      Location:14531505
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:15271764
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17741831
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    4. NM_001160160.2NP_001153632.1  sodium channel protein type 5 subunit alpha isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate, duplicated exon in the 5' coding region, uses an alternate in-frame splice site in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (e) differs at a few internal aa near the N-terminus and lacks a 1-aa and a 32-aa segment, compared to isoform a.
      Source sequence(s)
      AB158469, AF482988, AP006241, AY038064, BC051374, BC144621
      Consensus CDS
      CCDS54570.1
      UniProtKB/Swiss-Prot
      Q14524
      UniProtKB/TrEMBL
      E9PHB6, Q86V90, S5NU80
      Related
      ENSP00000399524.2, ENST00000455624.6
      Conserved Domains (5) summary
      cd13433
      Location:14701522
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12211478
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531199
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17591816
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    5. NM_001160161.2NP_001153633.1  sodium channel protein type 5 subunit alpha isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate, duplicated exon in the 5' coding region and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (f) differs at a few internal aa near the N-terminus and lacks a 54-aa segment, compared to isoform a.
      Source sequence(s)
      AB158470, AF482988, AP006241, AY038064, BC051374, BC140813
      Consensus CDS
      CCDS54569.1
      UniProtKB/Swiss-Prot
      Q14524
      UniProtKB/TrEMBL
      A0A0A0MT39, K4DIA1, Q86V90
      Related
      ENSP00000403355.2, ENST00000450102.6
      Conserved Domains (5) summary
      cd13433
      Location:14171469
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11681425
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531146
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17381795
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    6. NM_001354701.2NP_001341630.1  sodium channel protein type 5 subunit alpha isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AP006241
      UniProtKB/TrEMBL
      S5NU80
      Conserved Domains (5) summary
      cd13433
      Location:14521504
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12031460
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531199
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485654
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17671830
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    7. NM_001407185.1NP_001394114.1  sodium channel protein type 5 subunit alpha isoform h

      Status: REVIEWED

      Source sequence(s)
      AP006241
    8. NM_001407186.1NP_001394115.1  sodium channel protein type 5 subunit alpha isoform i

      Status: REVIEWED

      Source sequence(s)
      AP006241
    9. NM_001407187.1NP_001394116.1  sodium channel protein type 5 subunit alpha isoform j

      Status: REVIEWED

      Source sequence(s)
      AP006241
    10. NM_198056.3NP_932173.1  sodium channel protein type 5 subunit alpha isoform a

      See identical proteins and their annotated locations for NP_932173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB158469, AF482988, AP006241, BU845010, M77235
      Consensus CDS
      CCDS46796.1
      UniProtKB/Swiss-Prot
      A5H1P8, A6N922, A6N923, B2RTU0, E7ET19, E9PEF3, E9PEK2, E9PFW7, Q14524, Q59H93, Q75RX9, Q75RY0, Q86UR3, Q8IZC9, Q96J69
      UniProtKB/TrEMBL
      S5NU80
      Related
      ENSP00000328968.4, ENST00000333535.9
      Conserved Domains (5) summary
      cd13433
      Location:14711523
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12221479
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17921849
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RNA

    1. NR_176299.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP006241

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      38548062..38649687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533991.3XP_011532293.1  sodium channel protein type 5 subunit alpha isoform X1

      UniProtKB/TrEMBL
      S5NU80
      Conserved Domains (5) summary
      cd13433
      Location:14701522
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12211478
      Ion_trans; Ion transport protein
      pfam06512
      Location:9531199
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:485578
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17911848
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      38554106..38661891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347485.1XP_054203460.1  sodium channel protein type 5 subunit alpha isoform X1

      UniProtKB/TrEMBL
      S5NU80