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

Gene ID: 6331, updated on 16-Sep-2018

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; Vega:OTTHUMG00000156166
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 are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward heart (RPKM 17.6) See more
Orthologs

Genomic context

See SCN5A in Genome Data Viewer
Location:
3p22.2
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (38548061..38649673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38589553..38691164, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2266 Neighboring gene VISTA enhancer hs2267 Neighboring gene VISTA enhancer hs2177 Neighboring gene sodium voltage-gated channel alpha subunit 10 Neighboring gene VISTA enhancer hs2268 Neighboring gene uncharacterized LOC105377034

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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: CN029323 OMIM: 601144 GeneReviews: Brugada Syndrome
Compare labs
Dilated cardiomyopathy 1E
MedGen: C1832680 OMIM: 601154
Compare labs
Long QT syndrome 3
MedGen: C1859062 OMIM: 603830 GeneReviews: Long QT Syndrome
Compare labs
Paroxysmal familial ventricular fibrillation 1
MedGen: C2751898 OMIM: 603829 GeneReviews: Not available
Compare labs
Progressive familial heart block type 1A
MedGen: C1879286 OMIM: 113900 GeneReviews: Not available
Compare labs
Sick sinus syndrome 1, autosomal recessive
MedGen: C1837845 OMIM: 608567 GeneReviews: Not available
Compare labs
SUDDEN INFANT DEATH SYNDROME
MedGen: C0038644 OMIM: 272120 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-01-14)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2016-01-14)

ClinGen Genome Curation PagePubMed

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

Pathways from BioSystems

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_000335.4NP_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
    Related
    ENSP00000398266.2, OTTHUMP00000209282, ENST00000423572.6, OTTHUMT00000343225
    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_001099404.1NP_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, AY038064, BU845010, EF629346
    Consensus CDS
    CCDS46799.1
    UniProtKB/Swiss-Prot
    Q14524
    UniProtKB/TrEMBL
    H9KVD2
    Related
    ENSP00000410257.1, OTTHUMP00000209281, ENST00000413689.5, OTTHUMT00000343224
    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_001099405.1NP_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, AY038064, BU845010, EF629347
    Consensus CDS
    CCDS46798.1
    UniProtKB/Swiss-Prot
    Q14524
    UniProtKB/TrEMBL
    E9PG18
    Related
    ENSP00000416634.1, ENST00000425664.5
    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_001160160.1NP_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, AY038064, BC051374, BC144621
    Consensus CDS
    CCDS54570.1
    UniProtKB/Swiss-Prot
    Q14524
    UniProtKB/TrEMBL
    E9PHB6, Q86V90
    Related
    ENSP00000399524.2, OTTHUMP00000209279, ENST00000455624.6, OTTHUMT00000343215
    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_001160161.1NP_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, AY038064, BC051374, BC140813
    Consensus CDS
    CCDS54569.1
    UniProtKB/Swiss-Prot
    Q14524
    UniProtKB/TrEMBL
    K4DIA1, Q86V90
    Related
    ENSP00000388797.2, ENST00000451551.6
    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_001354701.1NP_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
    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_198056.2NP_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
    Q14524
    Related
    ENSP00000328968.4, OTTHUMP00000226268, ENST00000333535.8, OTTHUMT00000377958
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    38548061..38649673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007017.1XP_016862506.1  sodium channel protein type 5 subunit alpha isoform X2

    UniProtKB/TrEMBL
    A0A0A0MT39
    Related
    ENSP00000413996.2, OTTHUMP00000209284, ENST00000449557.6, OTTHUMT00000343227
  2. XM_011533991.2XP_011532293.1  sodium channel protein type 5 subunit alpha isoform X1

    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
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