Q01118 (SCN7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel protein type 7 subunit alpha

Alternative name(s):
Putative voltage-gated sodium channel subunit alpha Nax
Sodium channel protein cardiac and skeletal muscle subunit alpha
Sodium channel protein type VII subunit alpha

Gene names

Name:	SCN7A
Synonyms:	SCN6A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1682 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Heart and uterus.
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.
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. SCN7A subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle contraction Traceable author statement Ref.1. Source: ProtInc
Cellular_component	voltage-gated sodium channel complex Inferred from electronic annotation. Source: InterPro
Molecular_function	voltage-gated sodium channel activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1682	1682	Sodium channel protein type 7 subunit alpha		PRO_0000048499
Regions
	Transmembrane	114 – 140	27	Helical; Name=S1 of repeat I; By similarity
	Transmembrane	143 – 168	26	Helical; Name=S2 of repeat I; By similarity
	Transmembrane	180 – 202	23	Helical; Name=S3 of repeat I; By similarity
	Transmembrane	204 – 223	20	Helical; Voltage-sensor; Name=S4 of repeat I; By similarity
	Transmembrane	240 – 264	25	Helical; Name=S5 of repeat I; By similarity
	Transmembrane	369 – 395	27	Helical; Name=S6 of repeat I; By similarity
	Transmembrane	501 – 524	24	Helical; Name=S1 of repeat II; By similarity
	Transmembrane	536 – 559	24	Helical; Name=S2 of repeat II; By similarity
	Transmembrane	567 – 590	24	Helical; Name=S3 of repeat II; By similarity
	Transmembrane	593 – 609	17	Helical; Voltage-sensor; Name=S4 of repeat II; By similarity
	Transmembrane	630 – 650	21	Helical; Name=S5 of repeat II; By similarity
	Transmembrane	705 – 728	24	Helical; Name=S6 of repeat II; By similarity
	Transmembrane	930 – 958	29	Helical; Name=S1 of repeat III; By similarity
	Transmembrane	966 – 991	26	Helical; Name=S2 of repeat III; By similarity
	Transmembrane	997 – 1019	23	Helical; Name=S3 of repeat III; By similarity
	Transmembrane	1022 – 1040	19	Helical; Voltage-sensor; Name=S4 of repeat III; By similarity
	Transmembrane	1060 – 1080	21	Helical; Name=S5 of repeat III; By similarity
	Transmembrane	1167 – 1193	27	Helical; Name=S6 of repeat III; By similarity
	Transmembrane	1248 – 1270	23	Helical; Name=S1 of repeat IV; By similarity
	Transmembrane	1281 – 1305	25	Helical; Name=S2 of repeat IV; By similarity
	Transmembrane	1312 – 1335	24	Helical; Name=S3 of repeat IV; By similarity
	Transmembrane	1345 – 1369	25	Helical; Voltage-sensor; Name=S4 of repeat IV; By similarity
	Transmembrane	1379 – 1405	27	Helical; Name=S5 of repeat IV; By similarity
	Transmembrane	1470 – 1496	27	Helical; Name=S6 of repeat IV; By similarity
Amino acid modifications
	Modified residue	442	1	Phosphoserine; by PKA Potential
	Modified residue	777	1	Phosphothreonine; by PKA Potential
	Modified residue	869	1	Phosphoserine; by PKA Potential
	Modified residue	905	1	Phosphoserine; by PKA Potential
	Glycosylation	276	1	N-linked (GlcNAc...) Potential
	Glycosylation	281	1	N-linked (GlcNAc...) Potential
	Glycosylation	309	1	N-linked (GlcNAc...) Potential
	Glycosylation	1103	1	N-linked (GlcNAc...) Potential
	Glycosylation	1113	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	41	1	T → N. Ref.1 Corresponds to variant rs7565062 [ dbSNP | Ensembl ].		VAR_063120
	Natural variant	407	1	I → V. Corresponds to variant rs11888208 [ dbSNP | Ensembl ].		VAR_024410
	Natural variant	600	1	M → L. Corresponds to variant rs34183637 [ dbSNP | Ensembl ].		VAR_055641
	Natural variant	958	1	M → I. Ref.1 Corresponds to variant rs6738031 [ dbSNP | Ensembl ].		VAR_063121
	Natural variant	1313	1	A → V. Corresponds to variant rs6760593 [ dbSNP | Ensembl ].		VAR_055642
	Natural variant	1516	1	R → K. Corresponds to variant rs34799257 [ dbSNP | Ensembl ].		VAR_055643
	Natural variant	1596	1	V → L. Corresponds to variant rs3791251 [ dbSNP | Ensembl ].		VAR_055644
	Natural variant	1657	1	D → G. Corresponds to variant rs35344714 [ dbSNP | Ensembl ].		VAR_055645
Experimental info
	Sequence conflict	361	1	Q → L in AAA59899. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q01118 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 38CD8D41975BCE18	FASTA	1,682	193,493
	10 20 30 40 50 60 MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL PFIYGNLSQG 70 80 90 100 110 120 MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT LSPFNCIRRT TIKVLVHPFF 130 140 150 160 170 180 QLFILISVLI DCVFMSLTNL PKWRPVLENT LLGIYTFEIL VKLFARGVWA GSFSFLGDPW 190 200 210 220 230 240 NWLDFSVTVF EVIIRYSPLD FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV 250 260 270 280 290 300 IILTLFFLSI FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG 310 320 330 340 350 360 ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM AQDYPEVLYH 370 380 390 400 410 420 QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE KQRVGEISKK IEPKFQQTGK 430 440 450 460 470 480 ELQEGNETDE AKTIQIEMKK RSPISTDTSL DVLEDATLRH KEELEKSKKI CPLYWYKFAK 490 500 510 520 530 540 TFLIWNCSPC WLKLKEFVHR IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG 550 560 570 580 590 600 NLVFIGIFTA EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM 610 620 630 640 650 660 LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG KNYEEFVCHI 670 680 690 700 710 720 DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA GQSWCIPFYL MVILIGNLLV 730 740 750 760 770 780 LYLFLALVSS FSSCKDVTAE ENNEAKNLQL AVARIKKGIN YVLLKILCKT QNVPKDTMDH 790 800 810 820 830 840 VNEVYVKEDI SDHTLSELSN TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS 850 860 870 880 890 900 GESDIENLDN KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG 910 920 930 940 950 960 CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT LAFEDIYMDQ 970 980 990 1000 1010 1020 RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW YRLDFVVVIV FCLSLIGKTR 1030 1040 1050 1060 1070 1080 EELKPLISMK FLRPLRVLSQ FERMKVVVRA LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF 1090 1100 1110 1120 1130 1140 AGRFYECIDP TSGERFPSSE VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT 1150 1160 1170 1180 1190 1200 FNGWITIMNS AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK 1210 1220 1230 1240 1250 1260 IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS QAFNVIVMVL 1270 1280 1290 1300 1310 1320 ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL KLIAFRCFYF TIAWNIFDFM 1330 1340 1350 1360 1370 1380 VVIFSITGLC LPMTVGSYLV PPSLVQLILL SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL 1390 1400 1410 1420 1430 1440 LNIILLIFLV MFIYAVFGMY NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML 1450 1460 1470 1480 1490 1500 DAIFNSKWSD CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN 1510 1520 1530 1540 1550 1560 IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF MAKPNKGQLI 1570 1580 1590 1600 1610 1620 ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE SGFLLANPFK ITCEPITTTL 1630 1640 1650 1660 1670 1680 KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD IHMIDGDRDV HATKEGAYFD KAKEKSPIQS QI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family." George A.L. Jr., Knittle T.J., Tamkun M.M. Proc. Natl. Acad. Sci. U.S.A. 89:4893-4897(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASN-41 AND ILE-958. Tissue: Fetal skeletal muscle and Heart.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M91556 mRNA. Translation: AAA59899.1. AC074101 Genomic DNA. No translation available. AC092583 Genomic DNA. No translation available.
IPI	IPI00300117.
PIR	A45380.
RefSeq	NP_002967.2. NM_002976.3.
UniGene	Hs.596087. Hs.644853.
3D structure databases
ProteinModelPortal	Q01118.
SMR	Q01118. Positions 119-259, 515-728, 930-1194, 1244-1436, 1497-1649.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000386796.
PTM databases
PhosphoSite	Q01118.
Polymorphism databases
DMDM	296452902.
Proteomic databases
PaxDb	Q01118.
PRIDE	Q01118.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409855; ENSP00000386796; ENSG00000136546.
GeneID	6332.
KEGG	hsa:6332.
UCSC	uc002udu.2. human.
Organism-specific databases
CTD	6332.
GeneCards	GC02M167225.
HGNC	HGNC:10594. SCN7A.
HPA	HPA004879.
MIM	182392. gene.
neXtProt	NX_Q01118.
PharmGKB	PA35008.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG268129.
HOGENOM	HOG000231755.
HOVERGEN	HBG053100.
InParanoid	Q01118.
KO	K04839.
OMA	LEYADMI.
OrthoDB	EOG4GF3D9.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	Q01118.
Bgee	Q01118.
CleanEx	HS_SCN7A.
Genevestigator	Q01118.
GermOnline	ENSG00000136546. Homo sapiens.
Family and domain databases
Gene3D	1.20.120.350. 4 hits.
InterPro	IPR005821. Ion_trans_dom. IPR000048. IQ_motif_EF-hand-BS. IPR027359. K_channel_four-helix_dom. IPR001696. Na_channel_asu. IPR010526. Na_trans_assoc. [Graphical view]
Pfam	PF00520. Ion_trans. 4 hits. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL.
SMART	SM00015. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL3585.
GenomeRNAi	6332.
NextBio	24592.
SOURCE	Search...

Entry information

Entry name

SCN7A_HUMAN

Accession

Primary (citable) accession number: Q01118

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	May 18, 2010
Last modified:	May 29, 2013
This is version 125 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.