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SCN1A sodium voltage-gated channel alpha subunit 1 [ Homo sapiens (human) ]

Gene ID: 6323, updated on 16-Apr-2024

Summary

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Official Symbol
SCN1Aprovided by HGNC
Official Full Name
sodium voltage-gated channel alpha subunit 1provided by HGNC
Primary source
HGNC:HGNC:10585
See related
Ensembl:ENSG00000144285 MIM:182389; AllianceGenome:HGNC:10585
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
DEE6; DRVT; FEB3; FHM3; NAC1; SCN1; SMEI; DEE6A; DEE6B; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1
Summary
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
Expression
Biased expression in brain (RPKM 5.3), lung (RPKM 1.3) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
2q24.3
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165984641..166149161, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166442174..166606734, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166841151..167005671, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16729 Neighboring gene tetratricopeptide repeat domain 21B Neighboring gene TTC21B antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:166810301-166811050 Neighboring gene uncharacterized LOC102724058 Neighboring gene SCN1A and SCN9A antisense RNA 1 Neighboring gene RN7SK pseudogene 152 Neighboring gene sodium voltage-gated channel alpha subunit 9 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Biophysical characterization and modelling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity. Berecki G, et al. Neurobiol Dis, 2023 Apr. PMID 36868483
  2. Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A. Hanafusa H, et al. Brain Dev, 2023 Jun. PMID 36774261
  3. SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions. Pagni S, et al. Hum Mol Genet, 2023 May 5. PMID 36715146, Free PMC Article
  4. De novo Y1460C missense variant in Na(V)1.1 impedes the pore region and results in epileptic encephalopathy. Plumereau Q, et al. Sci Rep, 2022 Oct 13. PMID 36229510, Free PMC Article
  5. Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Ghazala E, et al. Ital J Pediatr, 2022 Sep 2. PMID 36056404, Free PMC Article

See all (378) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
    Title: Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
  2. [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
    Title: [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
  3. [Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].
    Title: [Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].
  4. Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
    Title: Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
  5. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.
    Title: Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.
  6. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    Title: SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
  7. Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.
    Title: Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.
  8. Gastrointestinal and eating problems in SCN1A-related seizure disorders.
    Title: Gastrointestinal and eating problems in SCN1A-related seizure disorders.
  9. Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
    Title: Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
  10. Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
    Title: Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Submit: New GeneRIF Correction See all GeneRIFs (350)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants associated with general and MMR vaccine-related febrile seizures.
EBI GWAS Catalog
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
EBI GWAS Catalog
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
EBI GWAS Catalog
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
EBI GWAS Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
Non-traceable Author Statement
more info
 PubMed 
enables voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated sodium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables voltage-gated sodium channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in adult walking behavior IEA
Inferred from Electronic Annotation
more info
  
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 detection of mechanical stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane depolarization during action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during action potential ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
  
involved_in neuronal action potential IEA
Inferred from Electronic Annotation
more info
  
involved_in neuronal action potential propagation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
  
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon initial segment IEA
Inferred from Electronic Annotation
more info
  
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in node of Ranvier IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
part_of voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sodium channel protein type 1 subunit alpha
Names
sodium channel protein type I subunit alpha
sodium channel protein, brain I alpha subunit
sodium channel voltage gated type 1 alpha subunit
sodium channel, voltage-gated, type I, alpha polypeptide
sodium channel, voltage-gated, type I, alpha subunit
voltage-gated sodium channel subunit alpha Nav1.1

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

  1. NG_011906.1 RefSeqGene

    Range
    820..89480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_8

mRNA and Protein(s)

  1. NM_001165963.4 → NP_001159435.1  sodium channel protein type 1 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_001159435.1

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS54413.1
    UniProtKB/Swiss-Prot
    E9PG49, P35498, Q16172, Q585T7, Q8IUJ6, Q96LA3, Q9C008
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Related
    ENSP00000501589.1, ENST00000674923.1
    Conserved Domains (5) summary
    cd13433
    Location:1484 → 1536
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1217 → 1492
    Ion_trans; Ion transport protein
    pfam06512
    Location:1006 → 1213
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 705
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1800 → 1863
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  2. NM_001165964.3 → NP_001159436.1  sodium channel protein type 1 subunit alpha isoform 3

    See identical proteins and their annotated locations for NP_001159436.1

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS54414.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1456 → 1508
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1189 → 1464
    Ion_trans; Ion transport protein
    pfam06512
    Location:978 → 1185
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 677
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1772 → 1835
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  3. NM_001202435.3 → NP_001189364.1  sodium channel protein type 1 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_001189364.1

    Status: REVIEWED

    Source sequence(s)
    AC010127, AC107082
    Consensus CDS
    CCDS54413.1
    UniProtKB/Swiss-Prot
    E9PG49, P35498, Q16172, Q585T7, Q8IUJ6, Q96LA3, Q9C008
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Related
    ENSP00000492945.1, ENST00000641603.1
    Conserved Domains (5) summary
    cd13433
    Location:1484 → 1536
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1217 → 1492
    Ion_trans; Ion transport protein
    pfam06512
    Location:1006 → 1213
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 705
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1800 → 1863
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  4. NM_001353948.2 → NP_001340877.1  sodium channel protein type 1 subunit alpha isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS54413.1
    UniProtKB/Swiss-Prot
    E9PG49, P35498, Q16172, Q585T7, Q8IUJ6, Q96LA3, Q9C008
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1484 → 1536
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1217 → 1492
    Ion_trans; Ion transport protein
    pfam06512
    Location:1006 → 1213
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 705
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1800 → 1863
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  5. NM_001353949.2 → NP_001340878.1  sodium channel protein type 1 subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010127, AC107082
    Consensus CDS
    CCDS33316.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Related
    ENSP00000490799.1, ENST00000635750.1
    Conserved Domains (5) summary
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1206 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:995 → 1202
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 694
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1789 → 1852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  6. NM_001353950.2 → NP_001340879.1  sodium channel protein type 1 subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010127, AC107082
    Consensus CDS
    CCDS33316.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1206 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:995 → 1202
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 694
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1789 → 1852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  7. NM_001353951.2 → NP_001340880.1  sodium channel protein type 1 subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS33316.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1206 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:995 → 1202
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 694
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1789 → 1852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  8. NM_001353952.2 → NP_001340881.1  sodium channel protein type 1 subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS33316.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1206 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:995 → 1202
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 694
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1789 → 1852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  9. NM_001353954.2 → NP_001340883.1  sodium channel protein type 1 subunit alpha isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS86891.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3, A0A286YF26
    Related
    ENSP00000492917.1, ENST00000641575.1
    Conserved Domains (5) summary
    cd13433
    Location:1472 → 1524
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1480
    Ion_trans; Ion transport protein
    pfam06512
    Location:994 → 1201
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:509 → 693
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1788 → 1851
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  10. NM_001353955.2 → NP_001340884.1  sodium channel protein type 1 subunit alpha isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS86891.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3, A0A286YF26
    Conserved Domains (5) summary
    cd13433
    Location:1472 → 1524
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1480
    Ion_trans; Ion transport protein
    pfam06512
    Location:994 → 1201
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:509 → 693
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1788 → 1851
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  11. NM_001353957.2 → NP_001340886.1  sodium channel protein type 1 subunit alpha isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS54414.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Related
    ENSP00000386312.1, ENST00000409050.1
    Conserved Domains (5) summary
    cd13433
    Location:1456 → 1508
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1189 → 1464
    Ion_trans; Ion transport protein
    pfam06512
    Location:978 → 1185
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 677
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1772 → 1835
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  12. NM_001353958.2 → NP_001340887.1  sodium channel protein type 1 subunit alpha isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010127, AC107082
    Consensus CDS
    CCDS54414.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (5) summary
    cd13433
    Location:1456 → 1508
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1189 → 1464
    Ion_trans; Ion transport protein
    pfam06512
    Location:978 → 1185
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 677
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1772 → 1835
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  13. NM_001353960.2 → NP_001340889.1  sodium channel protein type 1 subunit alpha isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010127
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Conserved Domains (1) summary
    cd13433
    Location:1455 → 1507
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

  14. NM_001353961.2 → NP_001340890.1  sodium channel protein type 1 subunit alpha isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Conserved Domains (4) summary
    cd13433
    Location:670 → 722
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:403 → 678
    Ion_trans; Ion transport protein
    pfam06512
    Location:192 → 399
    Na_trans_assoc; Sodium ion transport-associated
    pfam16905
    Location:986 → 1049
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  15. NM_006920.6 → NP_008851.3  sodium channel protein type 1 subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_008851.3

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Consensus CDS
    CCDS33316.1
    UniProtKB/TrEMBL
    A0A1W2PPJ3
    Related
    ENSP00000490780.1, ENST00000637988.1
    Conserved Domains (5) summary
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1206 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:995 → 1202
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:510 → 694
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1789 → 1852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RNA

  1. NR_148667.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010127
    Related
    ENST00000641996.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    165984641..166149161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445392.1 → XP_047301348.1  sodium channel protein type 1 subunit alpha isoform X1

  2. XM_047445393.1 → XP_047301349.1  sodium channel protein type 1 subunit alpha isoform X2

    Related
    ENSP00000490692.1, ENST00000635776.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    166442174..166606734 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343301.1 → XP_054199276.1  sodium channel protein type 1 subunit alpha isoform X1

  2. XM_054343302.1 → XP_054199277.1  sodium channel protein type 1 subunit alpha isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35498.2 GenPept UniProtKB/Swiss-Prot:P35498

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