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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

14-3-3epsilon/YWHAE regulates the transcriptional expression of cardiac sodium channel NaV1.5.
Title: 14-3-3ε/YWHAE regulates the transcriptional expression of cardiac sodium channel Na(V)1.5.
Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant.
Title: Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant.
Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast.
Title: Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast.
NEDD4L intramolecular interactions regulate its auto and substrate NaV1.5 ubiquitination.
Title: NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination.
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Title: SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis.
Title: Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis.
SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.
Title: SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Title: In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Title: Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Biophysical properties of NaV1.5 channels from atrial-like and ventricular-like cardiomyocytes derived from human induced pluripotent stem cells.
Title: Biophysical properties of Na(V)1.5 channels from atrial-like and ventricular-like cardiomyocytes derived from human induced pluripotent stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (599)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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	not available
Brugada syndrome 1 MedGen: C4551804 OMIM: 601144 GeneReviews: Brugada Syndrome	not available
Dilated cardiomyopathy 1E MedGen: C1832680 OMIM: 601154 GeneReviews: Dilated Cardiomyopathy Overview	not available
Long QT syndrome MedGen: C0023976 GeneReviews: Long QT Syndrome Overview	not available
Long QT syndrome 3 MedGen: C1859062 OMIM: 603830 GeneReviews: Long QT Syndrome Overview	not available
Progressive familial heart block, type 1A MedGen: C1879286 OMIM: 113900 GeneReviews: Not available	not available
Sick sinus syndrome 1 MedGen: C1837845 OMIM: 608567 GeneReviews: Not available	not available
SUDDEN INFANT DEATH SYNDROME MedGen: C0038644 OMIM: 272120 GeneReviews: Not available	not available
Ventricular fibrillation, paroxysmal familial, type 1 MedGen: C2751898 OMIM: 603829 GeneReviews: Not available	not available

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Scn3a (e-PCR), detects polymorphism
- UniSTS:516640

Scn5a (e-PCR), detects polymorphism
- UniSTS:516644

Scn5a (e-PCR), detects polymorphism
- UniSTS:516645

SHGC-148512 (e-PCR)
- UniSTS:176432

SHGC-146356 (e-PCR)
- UniSTS:175169

SHGC-145242 (e-PCR)
- UniSTS:174466

GDB:624525 (e-PCR)
- UniSTS:158341

GDB:624564 (e-PCR)
- UniSTS:158350

GDB:624573 (e-PCR)
- UniSTS:158352

D3S1641 (e-PCR)
- UniSTS:154298

D3S4190 (e-PCR)
- UniSTS:43452

SCN5A_3457 (e-PCR)
- UniSTS:471751

D3S1641 (e-PCR)
- UniSTS:16601

GDB:555574 (e-PCR)
- UniSTS:157686

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

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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)

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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

NG_008934.1 RefSeqGene

Range

5000..106611

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_289

mRNA and Protein(s)

NM_000335.5 → NP_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:1470 → 1522

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1221 → 1478

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1199

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1791 → 1848

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001099404.2 → NP_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:1471 → 1523

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1222 → 1479

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1792 → 1849

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001099405.2 → NP_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:1453 → 1505

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1527 → 1764

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1774 → 1831

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001160160.2 → NP_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:1470 → 1522

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1221 → 1478

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1199

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1759 → 1816

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001160161.2 → NP_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:1417 → 1469

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1168 → 1425

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1146

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1738 → 1795

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001354701.2 → NP_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:1452 → 1504

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1203 → 1460

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1199

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 654

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1767 → 1830

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
NM_001407185.1 → NP_001394114.1 sodium channel protein type 5 subunit alpha isoform h

Status: REVIEWED

Source sequence(s)

AP006241
NM_001407186.1 → NP_001394115.1 sodium channel protein type 5 subunit alpha isoform i

Status: REVIEWED

Source sequence(s)

AP006241
NM_001407187.1 → NP_001394116.1 sodium channel protein type 5 subunit alpha isoform j

Status: REVIEWED

Source sequence(s)

AP006241

Related

ENST00000718273.1
NM_198056.3 → NP_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:1471 → 1523

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1222 → 1479

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1792 → 1849

GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RNA

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

38548062..38649687 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

S5NU80

Conserved Domains (5) summary

cd13433
Location:1470 → 1522

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1221 → 1478

Ion_trans; Ion transport protein

pfam06512
Location:953 → 1199

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:485 → 578

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1791 → 1848

GPHH; Voltage-dependent L-type calcium channel, IQ-associated