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Database: UniProt
Entry: E9PHB6_HUMAN
LinkDB: E9PHB6_HUMAN
Original site: E9PHB6_HUMAN 
ID   E9PHB6_HUMAN            Unreviewed;      1983 AA.
AC   E9PHB6;
DT   05-APR-2011, integrated into UniProtKB/TrEMBL.
DT   05-APR-2011, sequence version 1.
DT   27-SEP-2017, entry version 58.
DE   RecName: Full=Sodium channel protein {ECO:0000256|RuleBase:RU361132};
GN   Name=SCN5A {ECO:0000313|Ensembl:ENSP00000399524};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000399524, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000399524}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 4.";
RL   Nature 434:724-731(2005).
RN   [2] {ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA   Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA   Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA   Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA   Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.Z., Steffen D., Wei S.,
RA   Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA   Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA   Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA   Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA   Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA   Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA   Liu W., Lu J., Maheshwari M., Nguyen B.V., Okwuonu G.O., Palmeiri A.,
RA   Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K., Yao Z., Zhang J.,
RA   Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA   Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA   Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [3] {ECO:0000313|Ensembl:ENSP00000399524}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (JUL-2011) to UniProtKB.
CC   -!- FUNCTION: Mediates the voltage-dependent sodium ion permeability
CC       of excitable membranes. {ECO:0000256|RuleBase:RU361132}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane
CC       {ECO:0000256|RuleBase:RU361132}; Multi-pass membrane protein
CC       {ECO:0000256|RuleBase:RU361132}.
CC   -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
CC       {ECO:0000256|RuleBase:RU361132}.
CC   -!- CAUTION: Lacks conserved residue(s) required for the propagation
CC       of feature annotation. {ECO:0000256|RuleBase:RU361132}.
CC   -!- CAUTION: The sequence shown here is derived from an Ensembl
CC       automatic analysis pipeline and should be considered as
CC       preliminary data. {ECO:0000313|Ensembl:ENSP00000399524}.
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DR   EMBL; AP006241; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001153632.1; NM_001160160.1.
DR   UniGene; Hs.517898; -.
DR   ProteinModelPortal; E9PHB6; -.
DR   PaxDb; E9PHB6; -.
DR   PeptideAtlas; E9PHB6; -.
DR   PRIDE; E9PHB6; -.
DR   Ensembl; ENST00000455624; ENSP00000399524; ENSG00000183873.
DR   GeneID; 6331; -.
DR   UCSC; uc062ihj.1; human.
DR   CTD; 6331; -.
DR   EuPathDB; HostDB:ENSG00000183873.15; -.
DR   HGNC; HGNC:10593; SCN5A.
DR   OpenTargets; ENSG00000183873; -.
DR   eggNOG; KOG2301; Eukaryota.
DR   eggNOG; ENOG410XNP6; LUCA.
DR   GeneTree; ENSGT00830000128242; -.
DR   GenomeRNAi; 6331; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   Bgee; ENSG00000183873; -.
DR   ExpressionAtlas; E9PHB6; baseline and differential.
DR   Genevisible; E9PHB6; HS.
DR   GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:UniProtKB-UniRule.
DR   GO; GO:0005248; F:voltage-gated sodium channel activity; IEA:InterPro.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR008053; Na_channel_a5su.
DR   InterPro; IPR001696; Na_channel_asu.
DR   InterPro; IPR010526; Na_trans_assoc.
DR   InterPro; IPR024583; Na_trans_cytopl.
DR   Pfam; PF00520; Ion_trans; 4.
DR   Pfam; PF06512; Na_trans_assoc; 1.
DR   Pfam; PF11933; Na_trans_cytopl; 1.
DR   PRINTS; PR00170; NACHANNEL.
DR   PRINTS; PR01666; NACHANNEL5.
PE   1: Evidence at protein level;
KW   Coiled coil {ECO:0000256|SAM:Coils};
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Ion channel {ECO:0000256|RuleBase:RU361132};
KW   Ion transport {ECO:0000256|RuleBase:RU361132};
KW   Membrane {ECO:0000256|RuleBase:RU361132};
KW   Proteomics identification {ECO:0000213|PeptideAtlas:E9PHB6};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Sodium {ECO:0000256|RuleBase:RU361132};
KW   Sodium channel {ECO:0000256|RuleBase:RU361132};
KW   Sodium transport {ECO:0000256|RuleBase:RU361132};
KW   Transmembrane {ECO:0000256|RuleBase:RU361132};
KW   Transmembrane helix {ECO:0000256|RuleBase:RU361132};
KW   Transport {ECO:0000256|RuleBase:RU361132};
KW   Voltage-gated channel {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    127    149       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    253    273       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    388    416       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    721    739       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    751    769       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    781    798       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    838    861       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    881    902       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM    914    939       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1204   1223       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1244   1260       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1272   1293       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1321   1347       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1443   1469       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1558   1579       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1627   1649       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM   1716   1739       Helical. {ECO:0000256|RuleBase:RU361132}.
FT   DOMAIN      130    422       Ion_trans. {ECO:0000259|Pfam:PF00520}.
FT   DOMAIN      478    667       Na_trans_cytopl. {ECO:0000259|Pfam:
FT                                PF11933}.
FT   DOMAIN      718    943       Ion_trans. {ECO:0000259|Pfam:PF00520}.
FT   DOMAIN      953   1199       Na_trans_assoc. {ECO:0000259|Pfam:
FT                                PF06512}.
FT   DOMAIN     1203   1478       Ion_trans. {ECO:0000259|Pfam:PF00520}.
FT   DOMAIN     1585   1749       Ion_trans. {ECO:0000259|Pfam:PF00520}.
FT   COILED      413    451       {ECO:0000256|SAM:Coils}.
SQ   SEQUENCE   1983 AA;  223100 MW;  579B086E9266CFDD CRC64;
     MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA
     SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI
     RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG
     FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV
     GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV
     WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW
     AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN
     QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK
     RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE
     ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV
     VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ
     RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD
     LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG
     WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG
     NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI
     ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ
     LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP
     PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQESQP
     VSGGPEAPPD SRTWSQVSAT ASSEAEASAS QADWRQQWKA EPQAPGCGET PEDSCSEGST
     ADMTNTAELL EQIPDLGQDV KDPEDCFTEG CVRRCPCCAV DTTQAPGKVW WRLRKTCYHI
     VEHSWFETFI IFMILLSSGA LAFEDIYLEE RKTIKVLLEY ADKMFTYVFV LEMLLKWVAY
     GFKKYFTNAW CWLDFLIVDV SLVSLVANTL GFAEMGPIKS LRTLRALRPL RALSRFEGMR
     VVVNALVGAI PSIMNVLLVC LIFWLIFSIM GVNLFAGKFG RCINQTEGDL PLNYTIVNNK
     SQCESLNLTG ELYWTKVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS RGYEEQPQWE
     YNLYMYIYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKLG GQDIFMTEEQ KKYYNAMKKL
     GSKKPQKPIP RPLNKYQGFI FDIVTKQAFD VTIMFLICLN MVTMMVETDD QSPEKINILA
     KINLLFVAIF TGTVLSDIIQ KYFFSPTLFR VIRLARIGRI LRLIRGAKGI RTLLFALMMS
     LPALFNIGLL LFLVMFIYSI FGMANFAYVK WEAGIDDMFN FQTFANSMLC LFQITTSAGW
     DGLLSPILNT GPPYCDPTLP NSNGSRGDCG SPAVGILFFT TYIIISFLIV VNMYIAIILE
     NFSVATEEST EPLSEDDFDM FYEIWEKFDP EATQFIEYSV LSDFADALSE PLRIAKPNQI
     SLINMDLPMV SGDRIHCMDI LFAFTKRVLG ESGEMDALKI QMEEKFMAAN PSKISYEPIT
     TTLRRKHEEV SAMVIQRAFR RHLLQRSLKH ASFLFRQQAG SGLSEEDAPE REGLIAYVMS
     ENFSRPLGPP SSSSISSTSF PPSYDSVTRA TSDNLQVRGS DYSHSEDLAD FPPSPDRDRE
     SIV
//
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