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SCN4A sodium channel, voltage-gated, type IV, alpha subunit [ Homo sapiens (human) ]

Gene ID: 6329, updated on 16-Apr-2014
Official Symbol
SCN4Aprovided by HGNC
Official Full Name
sodium channel, voltage-gated, type IV, alpha subunitprovided by HGNC
Primary source
HGNC:10591
See related
Ensembl:ENSG00000007314; HPRD:04912; 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; 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]
Location :
17q23.3
Sequence :
Chromosome: 17; NC_000017.11 (63938554..63989511, complement)
See SCN4A in Epigenomics, MapViewer

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene growth hormone 1 Neighboring gene CD79b molecule, immunoglobulin-associated beta Neighboring gene uncharacterized LOC400612 Neighboring gene proline rich 29 Neighboring gene intercellular adhesion molecule 2

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
voltage-gated sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
sodium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
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
sodium channel protein type 4 subunit alpha
sodium channel protein type IV subunit alpha
voltage-gated sodium channel subunit alpha Nav1.4
sodium channel protein skeletal muscle subunit alpha
skeletal muscle voltage-dependent sodium channel type IV alpha subunit

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 proteins identical to NP_000325.4

    Status: REVIEWED

    Source sequence(s)
    AC127029, AY212253, M81758
    Consensus CDS
    CCDS45761.1
    UniProtKB/Swiss-Prot
    P35499
    Related
    ENSP00000396320, ENST00000435607
    Conserved Domains (3) summary
    cd13433
    Location:12961348
    Blast Score: 298
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:10671294
    Blast Score: 460
    Ion_trans; Ion transport protein
    pfam06512
    Location:8161041
    Blast Score: 595
    Na_trans_assoc; Sodium ion transport-associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11

    Range
    63938554..63989511, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257566.2XP_005257623.1  

    See proteins identical to XP_005257623.1

    UniProtKB/Swiss-Prot
    P35499
    Conserved Domains (3) summary
    cd13433
    Location:12961348
    Blast Score: 298
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:10671294
    Blast Score: 460
    Ion_trans; Ion transport protein
    pfam06512
    Location:8161041
    Blast Score: 595
    Na_trans_assoc; Sodium ion transport-associated

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    57383629..57417946, 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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