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    SCN4A sodium voltage-gated channel alpha subunit 4 [ Homo sapiens (human) ]

    Gene ID: 6329, updated on 4-Jun-2017
    Official Symbol
    SCN4Aprovided by HGNC
    Official Full Name
    sodium voltage-gated channel alpha subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:10591
    See related
    Ensembl:ENSG00000007314 MIM:603967; Vega:OTTHUMG00000179046
    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
    HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; Na(V)1.4
    Summary
    Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q23.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (63938554..63972918, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62015914..62066876, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene growth hormone 1 Neighboring gene CD79b molecule Neighboring gene uncharacterized LOC105371858 Neighboring gene PRR29 antisense RNA 1 Neighboring gene proline rich 29 Neighboring gene intercellular adhesion molecule 2

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 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. ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    voltage-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    neuronal action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    voltage-gated sodium channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sodium channel protein type 4 subunit alpha
    Names
    CTC-264K15.6
    skeletal muscle sodium channel alpha subunit
    skeletal muscle voltage-dependent sodium channel type IV alpha subunit
    sodium channel protein skeletal muscle subunit alpha
    sodium channel protein type IV subunit alpha
    sodium channel, voltage-gated, type IV, alpha subunit
    voltage-gated sodium channel subunit alpha Nav1.4

    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_011699.1 RefSeqGene

      Range
      5001..39365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000334.4NP_000325.4  sodium channel protein type 4 subunit alpha

      See identical proteins and their annotated locations for NP_000325.4

      Status: REVIEWED

      Source sequence(s)
      AC127029, AY212253, M81758
      Consensus CDS
      CCDS45761.1
      UniProtKB/Swiss-Prot
      P35499
      Related
      ENSP00000396320.1, ENST00000435607.3
      Conserved Domains (4) summary
      cd13433
      Location:12961348
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:10481304
      Ion_trans; Ion transport protein
      pfam06512
      Location:8161026
      Na_trans_assoc; Sodium ion transport-associated
      pfam16905
      Location:16201675
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      63938554..63972918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      62079833..62114196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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