Scn8a
entrez
20273
canonical
uniprot
Q9WTU3
canonical
ensembl
ENSMUSG00000023033
resolver
ensp
ENSMUSP00000080842
resolver
ensp
ENSMUSP00000104536
resolver
ensp
ENSMUSP00000104537
resolver
ensp
ENSMUSP00000104538
resolver
ensp
ENSMUSP00000144013
resolver
ensp
ENSMUSP00000144371
resolver
enst
ENSMUST00000082209
resolver
enst
ENSMUST00000108908
resolver
enst
ENSMUST00000108909
resolver
enst
ENSMUST00000108910
resolver
enst
ENSMUST00000200963
resolver
enst
ENSMUST00000201549
resolver
genesymbol
Scn8a
resolver
genesymbol_syn
Nbna1
resolver
uniprot
A0A0J9YUW5
resolver
uniprot
A0A0R5RP22
resolver
uniprot
A0A0R5RP30
resolver
uniprot
F6U329
resolver
uniprot
F7D6H8
resolver
uniprot
F7D6J5
resolver
uniprot
F7D6K4
resolver
uniprot
Q3TYI3
resolver
uniprot
Q60828
resolver
uniprot
Q60858
resolver
uniprot
Q62449
resolver
uniprot_entry
A0A0J9YUW5_MOUSE
resolver
uniprot_entry
A0A0R5RP22_MOUSE
resolver
uniprot_entry
A0A0R5RP30_MOUSE
resolver
uniprot_entry
F6U329_MOUSE
resolver
uniprot_entry
F7D6J5_MOUSE
resolver
uniprot_entry
F7D6K4_MOUSE
resolver
uniprot_entry
SCN8A_MOUSE
resolver
uniprot_sec
F7D6H8
resolver
uniprot_sec
Q3TYI3
resolver
uniprot_sec
Q60828
resolver
uniprot_sec
Q60858
resolver
uniprot_sec
Q62449
resolver
amino_acid_sequence
MAARVLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPEWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTRGFDWEEYINNKTNFYMVPGMLEPLLCGNSSDAGQCPEGFQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEDGVGSPRSSSELSKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQCSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGPGSHIGRLLPEATTEVEIKKKGPGSLLVSMEQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELGLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISQECKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWAKVKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGVDIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIDEVNNKTDCEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPDYEGNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICRKITSNKLENGGTHREKKESTPSTASLPSYDSVTKPDKEKQQRAEEGRRERAKRQKEVRESKC
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Scn8a are the cause of motor endplate disease (med). Med is a recessive neuromuscular disorder that is characterized by lack of signal transmission at the neuromuscular junction, excess preterminal arborization and degeneration of cerebellar Purkinje cells. It produces early onset progressive paralysis of hind limbs, severe muscle atrophy and juvenile lethality.; DISEASE: Note=Defects in Scn8a are the cause of the jolting mutant (medjo), a mild form of motor endplate disease which is characterized by the absence of spontaneous, regular, simple discharges from Purkinje cells. After 3 weeks of age, jolting mice are unsteady and have wide-based gait and a rhythmical tremor of head and neck induced by attempted movement. {ECO:0000269|PubMed:7670495, ECO:0000269|PubMed:8815882}.; DISEASE: Note=Defects in Scn8a are a cause of degenerating muscle (dmu). Dmu is an autosomal recessive neuromuscular disorder that is characterized by skeletal and cardiac muscle degeneration. It produces early onset progressive loss of mobility of the hind limbs and subsequent lethality in the first month of life. {ECO:0000269|PubMed:11532991, ECO:0000305|PubMed:8663325}.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient. Contributes to neuronal excitability by regulating action potential threshold and propagation. {ECO:0000269|PubMed:20678086, ECO:0000269|PubMed:23942337}.; FUNCTION: [Isoform 5]: More specifically expressed in non-neuronal cells, could play a role in sodium release from intracellular compartments and participate in the control of podosomes formation and macrophages adhesion and movement. {ECO:0000269|PubMed:19136557}.
uniprot
proteins
mass_dalton
225141
uniprot
proteins
mutagenesis
MUTAGEN 1602; /note="D->E: Decrease in sensitivity to the scorpion toxin BMKM1."; /evidence="ECO:0000269|PubMed:20678086"; MUTAGEN 1901; /note="Q->A: Decreases interaction with CALM1 in the absence of calcium."; /evidence="ECO:0000269|PubMed:23942337"; MUTAGEN 1902; /note="R->A: Decreases interaction with CALM1 in the presence and absence of calcium and reduces rate of channel inactivation."; /evidence="ECO:0000269|PubMed:23942337"; MUTAGEN 1904; /note="Y->A: Decreases interaction with CALM1 in the presence and absence of calcium and reduces rate of channel inactivation."; /evidence="ECO:0000269|PubMed:23942337"; MUTAGEN 1905; /note="R->A: Decreases interaction with CALM1 in the absence of calcium.
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO:0000269|PubMed:15123669}.; PTM: Phosphorylation at Ser-1495 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250}.
uniprot
proteins
protein_family
Nav1.6/SCN8A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
11532991
uniprot
proteins
pubmed
15123669
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19136557
uniprot
proteins
pubmed
20678086
uniprot
proteins
pubmed
23942337
uniprot
proteins
pubmed
28842554
uniprot
proteins
pubmed
7670495
uniprot
proteins
pubmed
8663325
uniprot
proteins
pubmed
8815882
uniprot
proteins
pubmed
9295353
uniprot
proteins
pubmed
9828131
uniprot
proteins
sequence_length
1978
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28842554}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9UQD0}. Cell projection, axon {ECO:0000269|PubMed:28842554}. Note=Mainly localizes to the axon initial segment. {ECO:0000269|PubMed:28842554}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasmic vesicle {ECO:0000269|PubMed:19136557}. Cell projection, podosome {ECO:0000250|UniProtKB:Q9UQD0}.
uniprot
proteins
transmembrane_region
TRANSMEM 133..151; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 159..179; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 194..211; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 218..234; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 254..273; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 388..408; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 752..770; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 782..801; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 816..835; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 838..855; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 872..890; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 954..974; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1198..1215; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1229..1247; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1262..1280; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1289..1307; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1325..1344; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1437..1458; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1522..1539; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1551..1569; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1582..1599; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1613..1629; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1649..1666; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1741..1763; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2
uniprot
proteins