Q9WTU3 (SCN8A_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel protein type 8 subunit alpha

Alternative name(s):
Sodium channel protein type VIII subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.6

Gene names

Name:	Scn8a
Synonyms:	Nbna1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1978 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. In macrophages, isoform 5 may participate in the control of podosome and invadopodia formation. Ref.8 Ref.9
Subunit structure	Interacts with FGF13; may regulate SCN8A activity By similarity. Interacts with NEDD4 and NEDD4L. Ref.6
Subcellular location	Membrane; Multi-pass membrane protein Ref.8.
Tissue specificity	Expressed in brain, cerebellum and spinal cord. Isoform 5 may be expressed in non-neuronal tissues, such as peritoneal macrophages. Ref.1 Ref.2 Ref.8
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position. Ref.9
Post-translational modification	May be ubiquitinated by NEDD4L; which would promote its endocytosis By similarity.
Involvement in disease	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. Ref.2 Ref.4 Ref.10 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. Ref.2 Ref.4 Ref.10 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. Ref.2 Ref.4 Ref.10
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. [View classification] Contains 1 IQ domain. Ref.9

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult walking behavior Inferred from mutant phenotype Ref.2. Source: MGI muscle organ development Inferred from mutant phenotype PubMed 15170223. Source: MGI neuromuscular process Inferred from mutant phenotype PubMed 3674018. Source: MGI response to toxin Inferred from direct assay PubMed 16029194. Source: MGI sensory perception of sound Inferred from mutant phenotype PubMed 12204355. Source: MGI
Cellular_component	Z disc Inferred from direct assay PubMed 17884088. Source: BHF-UCL dendrite Inferred from direct assay PubMed 17928448. Source: MGI neuronal cell body Inferred from direct assay PubMed 17928448. Source: MGI node of Ranvier Inferred from direct assay PubMed 11807096. Source: BHF-UCL voltage-gated sodium channel complex Inferred by curator Ref.1. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW voltage-gated sodium channel activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 Ref.1 Ref.7 (identifier: Q9WTU3-1)

Also known as: 18A;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 Ref.1 (identifier: Q9WTU3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     428-673: Missing.

Isoform 3 Ref.1 (identifier: Q9WTU3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     664-664: E → EVKIDKAATDS

Isoform 4 Ref.7 (identifier: Q9WTU3-4)

Also known as: 18N;

The sequence of this isoform differs from the canonical sequence as follows:
     1273-1280: SLVSLIAN → PLSLSGLI
     1281-1978: Missing.

Isoform 5 Ref.7 (identifier: Q9WTU3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1272-1312: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1978	1978	Sodium channel protein type 8 subunit alpha		PRO_0000048501
Regions
	Transmembrane	128 – 151	24	Helical; Name=S1 of repeat I; Potential Ref.9
	Transmembrane	160 – 179	20	Helical; Name=S2 of repeat I; Potential Ref.9
	Transmembrane	193 – 211	19	Helical; Name=S3 of repeat I; Potential Ref.9
	Transmembrane	218 – 237	20	Helical; Name=S4 of repeat I; Potential Ref.9
	Transmembrane	253 – 277	25	Helical; Voltage-sensor; Name=S5 of repeat I; Potential Ref.9
	Transmembrane	388 – 413	26	Helical; Name=S6 of repeat I; Potential Ref.9
	Transmembrane	746 – 770	25	Helical; Name=S1 of repeat II; Potential Ref.9
	Transmembrane	782 – 805	24	Helical; Name=S2 of repeat II; Potential Ref.9
	Transmembrane	814 – 833	20	Helical; Name=S3 of repeat II; Potential Ref.9
	Transmembrane	840 – 860	21	Helical; Voltage-sensor; Name=S4 of repeat II; Potential Ref.9
	Transmembrane	876 – 896	21	Helical; Name=S5 of repeat II; Potential Ref.9
	Transmembrane	950 – 975	26	Helical; Name=S6 of repeat II; Potential Ref.9
	Transmembrane	1192 – 1215	24	Helical; Name=S1 of repeat III; Potential Ref.9
	Transmembrane	1229 – 1254	26	Helical; Name=S2 of repeat III; Potential Ref.9
	Transmembrane	1261 – 1282	22	Helical; Name=S3 of repeat III; Potential Ref.9
	Transmembrane	1287 – 1308	22	Helical; Voltage-sensor; Name=S4 of repeat III; Potential Ref.9
	Transmembrane	1328 – 1349	22	Helical; Name=S5 of repeat III; Potential Ref.9
	Transmembrane	1436 – 1462	27	Helical; Name=S6 of repeat III; Potential Ref.9
	Transmembrane	1516 – 1539	24	Helical; Name=S1 of repeat IV; Potential Ref.9
	Transmembrane	1551 – 1574	24	Helical; Name=S2 of repeat IV; Potential Ref.9
	Transmembrane	1581 – 1604	24	Helical; Name=S3 of repeat IV; Potential Ref.9
	Transmembrane	1615 – 1636	22	Helical; Voltage-sensor; Name=S4 of repeat IV; Potential Ref.9
	Transmembrane	1652 – 1674	23	Helical; Name=S5 of repeat IV; Potential Ref.9
	Transmembrane	1740 – 1764	25	Helical; Name=S6 of repeat IV; Potential Ref.9
	Repeat	114 – 442	329	I Ref.9
	Repeat	733 – 1005	273	II Ref.9
	Repeat	1178 – 1493	316	III Ref.9
	Repeat	1502 – 1799	298	IV Ref.9
	Domain	1893 – 1922	30	IQ Ref.9
	Nucleotide binding	891 – 898	8	ATP Potential Ref.9
Amino acid modifications
	Glycosylation	215	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	289	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	295	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	308	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	326	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	544	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	640	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	875	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1045	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1062	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1089	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1356	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1370	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1381	1	N-linked (GlcNAc...) Potential Ref.9
	Glycosylation	1766	1	N-linked (GlcNAc...) Potential Ref.9
Natural variations
	Alternative sequence	428 – 673	246	Missing in isoform 2. Ref.9		VSP_050594
	Alternative sequence	664	1	E → EVKIDKAATDS in isoform 3. Ref.1		VSP_050595
	Alternative sequence	1272 – 1312	41	Missing in isoform 5. Ref.7		VSP_050598
	Alternative sequence	1273 – 1280	8	SLVSLIAN → PLSLSGLI in isoform 4. Ref.7		VSP_050596
	Alternative sequence	1281 – 1978	698	Missing in isoform 4. Ref.7		VSP_050597
	Natural variant	5	1	V → L. Ref.3 Ref.9
	Natural variant	1317	1	A → T in medjo. Ref.9
Experimental info
	Sequence conflict	207	1	V → I in BAE34580. Ref.3
	Sequence conflict	212	1	D → N in BAE34580. Ref.3
	Sequence conflict	554	1	P → T in BAE34580. Ref.3
	Sequence conflict	596	1	G → D in BAE34580. Ref.3
	Sequence conflict	1498	1	P → A in AAA65599. Ref.5
	Sequence conflict	1504	1	R → E in AAA65599. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (18A) [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 9EA4A8E610707220	FASTA	1,978	225,141
	10 20 30 40 50 60 MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 70 80 90 100 110 120 AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 130 140 150 160 170 180 IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPEWSKN VEYTFTGIYT FESLVKIIAR 190 200 210 220 230 240 GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI 250 260 270 280 290 300 VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 310 320 330 340 350 360 DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY TSFDTFSWAF 370 380 390 400 410 420 LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 430 440 450 460 470 480 TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEDG VGSPRSSSEL 490 500 510 520 530 540 SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 550 560 570 580 590 600 SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 610 620 630 640 650 660 LFIPIRARER RSSYSGYSGY SQCSRSSRIF PSLRRSVKRN STVDCNGVVS LIGPGSHIGR 670 680 690 700 710 720 LLPEATTEVE IKKKGPGSLL VSMEQLASYG RKDRINSIMS VVTNTLVEEL EESQRKCPPC 730 740 750 760 770 780 WYKFANTFLI WECHPYWIKL KEIVNLIVMD PFVDLAITIC IVLNTLFMAM EHHPMTPQFE 790 800 810 820 830 840 HVLAVGNLVF TGIFTAEMFL KLIAMDPYYY FQEGWNIFDG FIVSLSLMEL GLADVEGLSV 850 860 870 880 890 900 LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL AIIVFIFAVV GMQLFGKSYK 910 920 930 940 950 960 ECVCKISQEC KLPRWHMNDF FHSFLIVFRV LCGEWIETMW DCMEVAGQAM CLIVFMMVMV 970 980 990 1000 1010 1020 IGNLVVLNLF LALLLSSFSA DNLAATDDDG EMNNLQISVI RIKKGVAWAK VKVHAFMQAH 1030 1040 1050 1060 1070 1080 FKQREADEVK PLDELYEKKA NCIANHTGVD IHRNGDFQKN GNGTTSGIGS SVEKYIIDED 1090 1100 1110 1120 1130 1140 HMSFINNPNL TVRVPIAVGE SDFENLNTED VSSESDPEGS KDKLDDTSSS EGSTIDIKPE 1150 1160 1170 1180 1190 1200 VEEVPVEQPE EYLDPDACFT EGCVQRFKCC QVNIEEGLGK SWWILRKTCF LIVEHNWFET 1210 1220 1230 1240 1250 1260 FIIFMILLSS GALAFEDIYI EQRKTIRTIL EYADKVFTYI FILEMLLKWT AYGFVKFFTN 1270 1280 1290 1300 1310 1320 AWCWLDFLIV AVSLVSLIAN ALGYSELGAI KSLRTLRALR PLRALSRFEG MRVVVNALVG 1330 1340 1350 1360 1370 1380 AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK YHYCFNETSE IRFEIDEVNN KTDCEKLMEG 1390 1400 1410 1420 1430 1440 NNTEIRWKNV KINFDNVGAG YLALLQVATF KGWMDIMYAA VDSRKPDEQP DYEGNIYMYI 1450 1460 1470 1480 1490 1500 YFVIFIIFGS FFTLNLFIGV IIDNFNQQKK KFGGQDIFMT EEQKKYYNAM KKLGSKKPQK 1510 1520 1530 1540 1550 1560 PIPRPLNKIQ GIVFDFVTQQ AFDIVIMMLI CLNMVTMMVE TDTQSKQMEN ILYWINLVFV 1570 1580 1590 1600 1610 1620 IFFTCECVLK MFALRHYYFT IGWNIFDFVV VILSIVGMFL ADIIEKYFVS PTLFRVIRLA 1630 1640 1650 1660 1670 1680 RIGRILRLIK GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIFSIFGMSN FAYVKHEAGI 1690 1700 1710 1720 1730 1740 DDMFNFETFG NSMICLFQIT TSAGWDGLLL PILNRPPDCS LDKEHPGSGF KGDCGNPSVG 1750 1760 1770 1780 1790 1800 IFFFVSYIII SFLIVVNMYI AIILENFSVA TEESADPLSE DDFETFYEIW EKFDPDATQF 1810 1820 1830 1840 1850 1860 IEYCKLADFA DALEHPLRVP KPNTIELIAM DLPMVSGDRI HCLDILFAFT KRVLGDSGEL 1870 1880 1890 1900 1910 1920 DILRQQMEER FVASNPSKVS YEPITTTLRR KQEEVSAVVL QRAYRGHLAR RGFICRKITS 1930 1940 1950 1960 1970 NKLENGGTHR EKKESTPSTA SLPSYDSVTK PDKEKQQRAE EGRRERAKRQ KEVRESKC
	Isoform 2 [UniParc]. Checksum: 7A7CF0DB544EBCF6	FASTA	1,732	197,648
	10 20 30 40 50 60 MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 70 80 90 100 110 120 AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 130 140 150 160 170 180 IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPEWSKN VEYTFTGIYT FESLVKIIAR 190 200 210 220 230 240 GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI 250 260 270 280 290 300 VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 310 320 330 340 350 360 DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY TSFDTFSWAF 370 380 390 400 410 420 LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 430 440 450 460 470 480 TLEEAEQKGP GSLLVSMEQL ASYGRKDRIN SIMSVVTNTL VEELEESQRK CPPCWYKFAN 490 500 510 520 530 540 TFLIWECHPY WIKLKEIVNL IVMDPFVDLA ITICIVLNTL FMAMEHHPMT PQFEHVLAVG 550 560 570 580 590 600 NLVFTGIFTA EMFLKLIAMD PYYYFQEGWN IFDGFIVSLS LMELGLADVE GLSVLRSFRL 610 620 630 640 650 660 LRVFKLAKSW PTLNMLIKII GNSVGALGNL TLVLAIIVFI FAVVGMQLFG KSYKECVCKI 670 680 690 700 710 720 SQECKLPRWH MNDFFHSFLI VFRVLCGEWI ETMWDCMEVA GQAMCLIVFM MVMVIGNLVV 730 740 750 760 770 780 LNLFLALLLS SFSADNLAAT DDDGEMNNLQ ISVIRIKKGV AWAKVKVHAF MQAHFKQREA 790 800 810 820 830 840 DEVKPLDELY EKKANCIANH TGVDIHRNGD FQKNGNGTTS GIGSSVEKYI IDEDHMSFIN 850 860 870 880 890 900 NPNLTVRVPI AVGESDFENL NTEDVSSESD PEGSKDKLDD TSSSEGSTID IKPEVEEVPV 910 920 930 940 950 960 EQPEEYLDPD ACFTEGCVQR FKCCQVNIEE GLGKSWWILR KTCFLIVEHN WFETFIIFMI 970 980 990 1000 1010 1020 LLSSGALAFE DIYIEQRKTI RTILEYADKV FTYIFILEML LKWTAYGFVK FFTNAWCWLD 1030 1040 1050 1060 1070 1080 FLIVAVSLVS LIANALGYSE LGAIKSLRTL RALRPLRALS RFEGMRVVVN ALVGAIPSIM 1090 1100 1110 1120 1130 1140 NVLLVCLIFW LIFSIMGVNL FAGKYHYCFN ETSEIRFEID EVNNKTDCEK LMEGNNTEIR 1150 1160 1170 1180 1190 1200 WKNVKINFDN VGAGYLALLQ VATFKGWMDI MYAAVDSRKP DEQPDYEGNI YMYIYFVIFI 1210 1220 1230 1240 1250 1260 IFGSFFTLNL FIGVIIDNFN QQKKKFGGQD IFMTEEQKKY YNAMKKLGSK KPQKPIPRPL 1270 1280 1290 1300 1310 1320 NKIQGIVFDF VTQQAFDIVI MMLICLNMVT MMVETDTQSK QMENILYWIN LVFVIFFTCE 1330 1340 1350 1360 1370 1380 CVLKMFALRH YYFTIGWNIF DFVVVILSIV GMFLADIIEK YFVSPTLFRV IRLARIGRIL 1390 1400 1410 1420 1430 1440 RLIKGAKGIR TLLFALMMSL PALFNIGLLL FLVMFIFSIF GMSNFAYVKH EAGIDDMFNF 1450 1460 1470 1480 1490 1500 ETFGNSMICL FQITTSAGWD GLLLPILNRP PDCSLDKEHP GSGFKGDCGN PSVGIFFFVS 1510 1520 1530 1540 1550 1560 YIIISFLIVV NMYIAIILEN FSVATEESAD PLSEDDFETF YEIWEKFDPD ATQFIEYCKL 1570 1580 1590 1600 1610 1620 ADFADALEHP LRVPKPNTIE LIAMDLPMVS GDRIHCLDIL FAFTKRVLGD SGELDILRQQ 1630 1640 1650 1660 1670 1680 MEERFVASNP SKVSYEPITT TLRRKQEEVS AVVLQRAYRG HLARRGFICR KITSNKLENG 1690 1700 1710 1720 1730 GTHREKKEST PSTASLPSYD SVTKPDKEKQ QRAEEGRRER AKRQKEVRES KC
	Isoform 3 [UniParc]. Checksum: 4DF697091BEFF58B	FASTA	1,988	226,170
	10 20 30 40 50 60 MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 70 80 90 100 110 120 AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 130 140 150 160 170 180 IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPEWSKN VEYTFTGIYT FESLVKIIAR 190 200 210 220 230 240 GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI 250 260 270 280 290 300 VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 310 320 330 340 350 360 DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY TSFDTFSWAF 370 380 390 400 410 420 LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 430 440 450 460 470 480 TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEDG VGSPRSSSEL 490 500 510 520 530 540 SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 550 560 570 580 590 600 SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 610 620 630 640 650 660 LFIPIRARER RSSYSGYSGY SQCSRSSRIF PSLRRSVKRN STVDCNGVVS LIGPGSHIGR 670 680 690 700 710 720 LLPEVKIDKA ATDSATTEVE IKKKGPGSLL VSMEQLASYG RKDRINSIMS VVTNTLVEEL 730 740 750 760 770 780 EESQRKCPPC WYKFANTFLI WECHPYWIKL KEIVNLIVMD PFVDLAITIC IVLNTLFMAM 790 800 810 820 830 840 EHHPMTPQFE HVLAVGNLVF TGIFTAEMFL KLIAMDPYYY FQEGWNIFDG FIVSLSLMEL 850 860 870 880 890 900 GLADVEGLSV LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL AIIVFIFAVV 910 920 930 940 950 960 GMQLFGKSYK ECVCKISQEC KLPRWHMNDF FHSFLIVFRV LCGEWIETMW DCMEVAGQAM 970 980 990 1000 1010 1020 CLIVFMMVMV IGNLVVLNLF LALLLSSFSA DNLAATDDDG EMNNLQISVI RIKKGVAWAK 1030 1040 1050 1060 1070 1080 VKVHAFMQAH FKQREADEVK PLDELYEKKA NCIANHTGVD IHRNGDFQKN GNGTTSGIGS 1090 1100 1110 1120 1130 1140 SVEKYIIDED HMSFINNPNL TVRVPIAVGE SDFENLNTED VSSESDPEGS KDKLDDTSSS 1150 1160 1170 1180 1190 1200 EGSTIDIKPE VEEVPVEQPE EYLDPDACFT EGCVQRFKCC QVNIEEGLGK SWWILRKTCF 1210 1220 1230 1240 1250 1260 LIVEHNWFET FIIFMILLSS GALAFEDIYI EQRKTIRTIL EYADKVFTYI FILEMLLKWT 1270 1280 1290 1300 1310 1320 AYGFVKFFTN AWCWLDFLIV AVSLVSLIAN ALGYSELGAI KSLRTLRALR PLRALSRFEG 1330 1340 1350 1360 1370 1380 MRVVVNALVG AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK YHYCFNETSE IRFEIDEVNN 1390 1400 1410 1420 1430 1440 KTDCEKLMEG NNTEIRWKNV KINFDNVGAG YLALLQVATF KGWMDIMYAA VDSRKPDEQP 1450 1460 1470 1480 1490 1500 DYEGNIYMYI YFVIFIIFGS FFTLNLFIGV IIDNFNQQKK KFGGQDIFMT EEQKKYYNAM 1510 1520 1530 1540 1550 1560 KKLGSKKPQK PIPRPLNKIQ GIVFDFVTQQ AFDIVIMMLI CLNMVTMMVE TDTQSKQMEN 1570 1580 1590 1600 1610 1620 ILYWINLVFV IFFTCECVLK MFALRHYYFT IGWNIFDFVV VILSIVGMFL ADIIEKYFVS 1630 1640 1650 1660 1670 1680 PTLFRVIRLA RIGRILRLIK GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIFSIFGMSN 1690 1700 1710 1720 1730 1740 FAYVKHEAGI DDMFNFETFG NSMICLFQIT TSAGWDGLLL PILNRPPDCS LDKEHPGSGF 1750 1760 1770 1780 1790 1800 KGDCGNPSVG IFFFVSYIII SFLIVVNMYI AIILENFSVA TEESADPLSE DDFETFYEIW 1810 1820 1830 1840 1850 1860 EKFDPDATQF IEYCKLADFA DALEHPLRVP KPNTIELIAM DLPMVSGDRI HCLDILFAFT 1870 1880 1890 1900 1910 1920 KRVLGDSGEL DILRQQMEER FVASNPSKVS YEPITTTLRR KQEEVSAVVL QRAYRGHLAR 1930 1940 1950 1960 1970 1980 RGFICRKITS NKLENGGTHR EKKESTPSTA SLPSYDSVTK PDKEKQQRAE EGRRERAKRQ KEVRESKC
	Isoform 4 (18N) [UniParc]. Checksum: 829683D208A54355	FASTA	1,280	145,012
	10 20 30 40 50 60 MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 70 80 90 100 110 120 AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 130 140 150 160 170 180 IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPEWSKN VEYTFTGIYT FESLVKIIAR 190 200 210 220 230 240 GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI 250 260 270 280 290 300 VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 310 320 330 340 350 360 DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY TSFDTFSWAF 370 380 390 400 410 420 LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 430 440 450 460 470 480 TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEDG VGSPRSSSEL 490 500 510 520 530 540 SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 550 560 570 580 590 600 SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 610 620 630 640 650 660 LFIPIRARER RSSYSGYSGY SQCSRSSRIF PSLRRSVKRN STVDCNGVVS LIGPGSHIGR 670 680 690 700 710 720 LLPEATTEVE IKKKGPGSLL VSMEQLASYG RKDRINSIMS VVTNTLVEEL EESQRKCPPC 730 740 750 760 770 780 WYKFANTFLI WECHPYWIKL KEIVNLIVMD PFVDLAITIC IVLNTLFMAM EHHPMTPQFE 790 800 810 820 830 840 HVLAVGNLVF TGIFTAEMFL KLIAMDPYYY FQEGWNIFDG FIVSLSLMEL GLADVEGLSV 850 860 870 880 890 900 LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL AIIVFIFAVV GMQLFGKSYK 910 920 930 940 950 960 ECVCKISQEC KLPRWHMNDF FHSFLIVFRV LCGEWIETMW DCMEVAGQAM CLIVFMMVMV 970 980 990 1000 1010 1020 IGNLVVLNLF LALLLSSFSA DNLAATDDDG EMNNLQISVI RIKKGVAWAK VKVHAFMQAH 1030 1040 1050 1060 1070 1080 FKQREADEVK PLDELYEKKA NCIANHTGVD IHRNGDFQKN GNGTTSGIGS SVEKYIIDED 1090 1100 1110 1120 1130 1140 HMSFINNPNL TVRVPIAVGE SDFENLNTED VSSESDPEGS KDKLDDTSSS EGSTIDIKPE 1150 1160 1170 1180 1190 1200 VEEVPVEQPE EYLDPDACFT EGCVQRFKCC QVNIEEGLGK SWWILRKTCF LIVEHNWFET 1210 1220 1230 1240 1250 1260 FIIFMILLSS GALAFEDIYI EQRKTIRTIL EYADKVFTYI FILEMLLKWT AYGFVKFFTN 1270 1280 AWCWLDFLIV AVPLSLSGLI
	Isoform 5 [UniParc]. Checksum: 12C51774C21ADF5E	FASTA	1,937	220,659
	10 20 30 40 50 60 MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 70 80 90 100 110 120 AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 130 140 150 160 170 180 IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPEWSKN VEYTFTGIYT FESLVKIIAR 190 200 210 220 230 240 GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI 250 260 270 280 290 300 VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 310 320 330 340 350 360 DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY TSFDTFSWAF 370 380 390 400 410 420 LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 430 440 450 460 470 480 TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEDG VGSPRSSSEL 490 500 510 520 530 540 SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 550 560 570 580 590 600 SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 610 620 630 640 650 660 LFIPIRARER RSSYSGYSGY SQCSRSSRIF PSLRRSVKRN STVDCNGVVS LIGPGSHIGR 670 680 690 700 710 720 LLPEATTEVE IKKKGPGSLL VSMEQLASYG RKDRINSIMS VVTNTLVEEL EESQRKCPPC 730 740 750 760 770 780 WYKFANTFLI WECHPYWIKL KEIVNLIVMD PFVDLAITIC IVLNTLFMAM EHHPMTPQFE 790 800 810 820 830 840 HVLAVGNLVF TGIFTAEMFL KLIAMDPYYY FQEGWNIFDG FIVSLSLMEL GLADVEGLSV 850 860 870 880 890 900 LRSFRLLRVF KLAKSWPTLN MLIKIIGNSV GALGNLTLVL AIIVFIFAVV GMQLFGKSYK 910 920 930 940 950 960 ECVCKISQEC KLPRWHMNDF FHSFLIVFRV LCGEWIETMW DCMEVAGQAM CLIVFMMVMV 970 980 990 1000 1010 1020 IGNLVVLNLF LALLLSSFSA DNLAATDDDG EMNNLQISVI RIKKGVAWAK VKVHAFMQAH 1030 1040 1050 1060 1070 1080 FKQREADEVK PLDELYEKKA NCIANHTGVD IHRNGDFQKN GNGTTSGIGS SVEKYIIDED 1090 1100 1110 1120 1130 1140 HMSFINNPNL TVRVPIAVGE SDFENLNTED VSSESDPEGS KDKLDDTSSS EGSTIDIKPE 1150 1160 1170 1180 1190 1200 VEEVPVEQPE EYLDPDACFT EGCVQRFKCC QVNIEEGLGK SWWILRKTCF LIVEHNWFET 1210 1220 1230 1240 1250 1260 FIIFMILLSS GALAFEDIYI EQRKTIRTIL EYADKVFTYI FILEMLLKWT AYGFVKFFTN 1270 1280 1290 1300 1310 1320 AWCWLDFLIV AVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKY HYCFNETSEI 1330 1340 1350 1360 1370 1380 RFEIDEVNNK TDCEKLMEGN NTEIRWKNVK INFDNVGAGY LALLQVATFK GWMDIMYAAV 1390 1400 1410 1420 1430 1440 DSRKPDEQPD YEGNIYMYIY FVIFIIFGSF FTLNLFIGVI IDNFNQQKKK FGGQDIFMTE 1450 1460 1470 1480 1490 1500 EQKKYYNAMK KLGSKKPQKP IPRPLNKIQG IVFDFVTQQA FDIVIMMLIC LNMVTMMVET 1510 1520 1530 1540 1550 1560 DTQSKQMENI LYWINLVFVI FFTCECVLKM FALRHYYFTI GWNIFDFVVV ILSIVGMFLA 1570 1580 1590 1600 1610 1620 DIIEKYFVSP TLFRVIRLAR IGRILRLIKG AKGIRTLLFA LMMSLPALFN IGLLLFLVMF 1630 1640 1650 1660 1670 1680 IFSIFGMSNF AYVKHEAGID DMFNFETFGN SMICLFQITT SAGWDGLLLP ILNRPPDCSL 1690 1700 1710 1720 1730 1740 DKEHPGSGFK GDCGNPSVGI FFFVSYIIIS FLIVVNMYIA IILENFSVAT EESADPLSED 1750 1760 1770 1780 1790 1800 DFETFYEIWE KFDPDATQFI EYCKLADFAD ALEHPLRVPK PNTIELIAMD LPMVSGDRIH 1810 1820 1830 1840 1850 1860 CLDILFAFTK RVLGDSGELD ILRQQMEERF VASNPSKVSY EPITTTLRRK QEEVSAVVLQ 1870 1880 1890 1900 1910 1920 RAYRGHLARR GFICRKITSN KLENGGTHRE KKESTPSTAS LPSYDSVTKP DKEKQQRAEE 1930 GRRERAKRQK EVRESKC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A." Plummer N.W., Galt J., Jones J.M., Burgess D.L., Sprunger L.K., Kohrman D.C., Meisler M.H. Genomics 54:287-296(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 3). Strain: C57BL/6J.
[2]	"Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'." Burgess D.L., Kohrman D.C., Galt J., Plummer N.W., Jones J.M., Spear B., Meisler M.H. Nat. Genet. 10:461-465(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, DISEASE. Strain: C57BL/6J. Tissue: Brain.
[3]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-804, VARIANT LEU-5. Strain: C57BL/6J. Tissue: Visual cortex.
[4]	"Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron." Kohrman D.C., Harris J.B., Meisler M.H. J. Biol. Chem. 271:17576-17581(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 93-205, DISEASE. Strain: 129/Sv. Tissue: Brain.
[5]	"A putative novel Na channel alpha subunit cDNA isolated from mouse NB2a neuroblastoma cells." Fan Z., Kyle J.W., Makielski J.C. Submitted (MAR-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1411-1686.
[6]	"Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2." Fotia A.B., Ekberg J., Adams D.J., Cook D.I., Poronnik P., Kumar S. J. Biol. Chem. 279:28930-28935(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NEDD4 AND NEDD4L.
[7]	"Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells." Plummer N.W., McBurney M.W., Meisler M.H. J. Biol. Chem. 272:24008-24015(1997) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 4 AND 5). Tissue: Brain and Fetal brain.
[8]	"Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A." Carrithers M.D., Chatterjee G., Carrithers L.M., Offoha R., Iheagwara U., Rahner C., Graham M., Waxman S.G. J. Biol. Chem. 284:8114-8126(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[9]	"A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting." Kohrman D.C., Smith M.R., Goldin A.L., Harris J., Meisler M.H. J. Neurosci. 16:5993-5999(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MEDJO THR-1317, VARIANT LEU-5. Strain: DBA/2WyDi.
[10]	"Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a." De Repentigny Y., Cote P.D., Pool M., Bernier G., Girard S., Vidal S.M., Kothary R. Hum. Mol. Genet. 10:1819-1827(2001) [PubMed] [Europe PMC] [Abstract] Cited for: DISEASE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF049617 mRNA. Translation: AAD20438.1. U26707 mRNA. Translation: AAC52242.1. AK158609 mRNA. Translation: BAE34580.1. U59964, U59963 Genomic DNA. Translation: AAC52708.1. U23158 mRNA. Translation: AAA65599.1.
IPI	IPI00337974. IPI00337975. IPI00337976. IPI00337977. IPI00337978.
UniGene	Mm.385012.
3D structure databases
ProteinModelPortal	Q9WTU3.
SMR	Q9WTU3. Positions 128-273, 761-975, 1192-1463, 1513-1913.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000080842.
PTM databases
PhosphoSite	Q9WTU3.
Proteomic databases
PaxDb	Q9WTU3.
PRIDE	Q9WTU3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
KEGG	mmu:20273.
UCSC	uc007xsh.1. mouse.
Organism-specific databases
CTD	6334.
MGI	MGI:103169. Scn8a.
Phylogenomic databases
eggNOG	COG1226.
HOGENOM	HOG000231755.
HOVERGEN	HBG091796.
KO	K04840.
OrthoDB	EOG40S0DS.
Gene expression databases
CleanEx	MM_SCN8A.
Genevestigator	Q9WTU3.
GermOnline	ENSMUSG00000023033. Mus musculus.
Family and domain databases
InterPro	IPR024583. DUF3451. IPR005821. Ion_trans_dom. IPR000048. IQ_motif_EF-hand-BS. IPR008054. Na_channel_a8su. IPR001696. Na_channel_asu. IPR010526. Na_trans_assoc. [Graphical view]
Pfam	PF11933. DUF3451. 1 hit. PF00520. Ion_trans. 4 hits. PF00612. IQ. 1 hit. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL. PR01667. NACHANNEL8.
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9WTU3.
ChEMBL	CHEMBL1914275.
ChiTaRS	SCN8A. mouse.
NextBio	297955.
SOURCE	Search...

Entry information

Entry name

SCN8A_MOUSE

Accession

Primary (citable) accession number: Q9WTU3
Secondary accession number(s): Q3TYI3 , Q60828, Q60858, Q62449

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 15, 2003
Last sequence update:	November 1, 1999
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program