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

Gene ID: 6331, updated on 19-Sep-2024

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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38548062..38649687, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38554106..38661891, complement)
RS_2024_09 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 DDT 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 ReSE screen-validated silencer GRCh37_chr3:38666894-38667075 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 ATAC-STARR-seq lymphoblastoid silent region 14214 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 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 Overview
Compare labs
Long QT syndrome 3
MedGen: C1859062 OMIM: 603830 GeneReviews: Long QT Syndrome Overview
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 cardiac conduction system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cardiac muscle cell action potential involved in contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
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/TrEMBL
    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/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/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/TrEMBL
    E9PHB6, 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/TrEMBL
    A0A0A0MT39, K4DIA1
    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
    Related
    ENST00000713730.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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