• Gene id: 6329

Gene Summary

• Gene Symbol: SCN4A   Gene   UCSC   Ensembl
• Aliases: CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
• Gene name: sodium voltage-gated channel alpha subunit 4
• Alternate names: sodium channel protein type 4 subunit alpha, 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 I,
• Gene location: 17q23.3 (63972917: 63938553)     Exons: 24     NC_000017.11
• Gene summary(Entrez): 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 i
• OMIM: 603183

Protein Summary

• Protein general information: P35499  
  • Name: Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage gated sodium channel subunit alpha Nav1.4)
  • Length: 1836  
  • Mass: 208061
• Sequence:

  MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGDPPPEV
  IGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMITILTNCVFMTM
  SDPPPWSKNVEYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLR
  ALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
  YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLCGNSSDAGHCPEGYEC
  IKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAGKTYMIFFVVIIFLGSFYLINLILAVVAMAY
  AEQNEATLAEDKEKEEEFQQMLEKFKKHQEELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSS
  GDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
  PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLR
  VFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIALDCNLPRWHMHDFFHS
  FLIVFRILCGEWIETMWDCMEVAGQAMCLTVFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIA
  IGRIKLGIGFAKAFLLGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
  DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDGNSSVCSTADYKPPEE
  DPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFMILLSSGALAF
  EDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPI
  KSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
  SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKEEQPQYEVNLYMYLYF
  VIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPQNKIQGMVYDLV
  TKQAFDITIMILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVI
  LSIVGLALSDLIQKYFVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
  MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGI
  CFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEP
  LRIAKPNKIKLITLDLPMVPGDKIHCLDILFALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRK
  HEEVCAIKIQRAYRRHLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
  AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV

• Structural information:
  • Protein Domains: (1727..175-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116"-)
  • Interpro: IPR005821  IPR000048  IPR008052  IPR001696  IPR010526   IPR027359  
  • Prosite: PS50096
  • PDB: 6AGF 6MBA 6MC9
  • PDBsum: 6AGF 6MBA 6MC9
  • STRING: ENSP00000396320
• Other Databases: GeneCards:  SCN4A  Malacards:  SCN4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0019228	neuronal action potential	IBA	biological process
GO:0005261	cation channel activity	IBA	molecular function
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0100001	regulation of skeletal muscle contraction by action potential	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0005261	cation channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0006814	sodium ion transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Periodic paralysis	KEGG:H00215
Non-dystrophic myotonia	KEGG:H01780
Paramyotonia congenita	KEGG:H00743
Potassium-aggravated myotonia	KEGG:H00744
Hyperkalemic periodic paralysis	KEGG:H00745
Hypokalemic periodic paralysis	KEGG:H00746
Congenital myasthenic syndrome	KEGG:H00770
Periodic paralysis	KEGG:H00215
Non-dystrophic myotonia	KEGG:H01780
Paramyotonia congenita	KEGG:H00743
Potassium-aggravated myotonia	KEGG:H00744
Hyperkalemic periodic paralysis	KEGG:H00745
Hypokalemic periodic paralysis	KEGG:H00746
Hyperkalemic periodic paralysis	PMID:12933953
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq