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-MAR-2024, entry version 92.
DE   RecName: Full=Sodium channel protein {ECO:0000256|RuleBase:RU361132};
GN   Name=SCN5A {ECO:0000313|Ensembl:ENSP00000399524.2};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000399524.2, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000399524.2, 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., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.V., Okwuonu G.O.,
RA   Palmeiri A., 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., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000399524.2}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (NOV-2023) to UniProtKB.
CC   -!- FUNCTION: Mediates the voltage-dependent sodium ion permeability of
CC       excitable membranes. Assuming opened or closed conformations in
CC       response to the voltage difference across the membrane, the protein
CC       forms a sodium-selective channel through which Na(+) ions may pass in
CC       accordance with their electrochemical gradient.
CC       {ECO:0000256|RuleBase:RU361132}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000256|ARBA:ARBA00004651,
CC       ECO:0000256|RuleBase:RU361132}; Multi-pass membrane protein
CC       {ECO:0000256|ARBA:ARBA00004651, ECO:0000256|RuleBase:RU361132}.
CC       Membrane {ECO:0000256|ARBA:ARBA00004141}; Multi-pass membrane protein
CC       {ECO:0000256|ARBA:ARBA00004141}.
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 of
CC       feature annotation. {ECO:0000256|RuleBase:RU361132}.
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DR   EMBL; AP006241; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001153632.1; NM_001160160.1.
DR   SMR; E9PHB6; -.
DR   MassIVE; E9PHB6; -.
DR   PeptideAtlas; E9PHB6; -.
DR   ProteomicsDB; 20497; -.
DR   Antibodypedia; 6411; 364 antibodies from 32 providers.
DR   DNASU; 6331; -.
DR   Ensembl; ENST00000455624.6; ENSP00000399524.2; ENSG00000183873.18.
DR   GeneID; 6331; -.
DR   UCSC; uc062ihj.1; human.
DR   CTD; 6331; -.
DR   HGNC; HGNC:10593; SCN5A.
DR   VEuPathDB; HostDB:ENSG00000183873; -.
DR   GeneTree; ENSGT00940000161691; -.
DR   OrthoDB; 1110761at2759; -.
DR   BioGRID-ORCS; 6331; 16 hits in 1157 CRISPR screens.
DR   ChiTaRS; SCN5A; human.
DR   GenomeRNAi; 6331; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   Bgee; ENSG00000183873; Expressed in apex of heart and 112 other cell types or tissues.
DR   ExpressionAtlas; E9PHB6; baseline and differential.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
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   CDD; cd13433; Na_channel_gate; 1.
DR   Gene3D; 1.10.287.70; -; 4.
DR   Gene3D; 1.10.238.10; EF-hand; 1.
DR   Gene3D; 1.20.5.1190; iswi atpase; 1.
DR   Gene3D; 1.20.120.350; Voltage-gated potassium channels. Chain C; 4.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR008053; Na_channel_a5su.
DR   InterPro; IPR001696; Na_channel_asu.
DR   InterPro; IPR044564; Na_chnl_inactivation_gate.
DR   InterPro; IPR010526; Na_trans_assoc_dom.
DR   InterPro; IPR024583; Na_trans_cytopl.
DR   InterPro; IPR043203; VGCC_Ca_Na.
DR   InterPro; IPR027359; Volt_channel_dom_sf.
DR   PANTHER; PTHR10037:SF206; SODIUM CHANNEL PROTEIN TYPE 5 SUBUNIT ALPHA; 1.
DR   PANTHER; PTHR10037; VOLTAGE-GATED CATION CHANNEL CALCIUM AND SODIUM; 1.
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.
DR   SUPFAM; SSF81324; Voltage-gated potassium channels; 4.
DR   Genevisible; E9PHB6; HS.
PE   1: Evidence at protein level;
KW   Cell membrane {ECO:0000256|ARBA:ARBA00022475};
KW   Coiled coil {ECO:0000256|SAM:Coils};
KW   Disulfide bond {ECO:0000256|ARBA:ARBA00023157};
KW   Ion channel {ECO:0000256|RuleBase:RU361132};
KW   Ion transport {ECO:0000256|ARBA:ARBA00023065,
KW   ECO:0000256|RuleBase:RU361132};
KW   Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|RuleBase:RU361132};
KW   Phosphoprotein {ECO:0000256|ARBA:ARBA00022553};
KW   Proteomics identification {ECO:0007829|MaxQB:E9PHB6,
KW   ECO:0007829|PeptideAtlas:E9PHB6};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Repeat {ECO:0000256|ARBA:ARBA00022737};
KW   Sodium {ECO:0000256|ARBA:ARBA00023053, ECO:0000256|RuleBase:RU361132};
KW   Sodium channel {ECO:0000256|ARBA:ARBA00022461,
KW   ECO:0000256|RuleBase:RU361132};
KW   Sodium transport {ECO:0000256|ARBA:ARBA00023201,
KW   ECO:0000256|RuleBase:RU361132};
KW   Transmembrane {ECO:0000256|ARBA:ARBA00022692,
KW   ECO:0000256|RuleBase:RU361132};
KW   Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW   ECO:0000256|RuleBase:RU361132};
KW   Transport {ECO:0000256|ARBA:ARBA00022448, ECO:0000256|RuleBase:RU361132};
KW   Voltage-gated channel {ECO:0000256|ARBA:ARBA00022882,
KW   ECO:0000256|RuleBase:RU361132}.
FT   TRANSMEM        127..149
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        253..273
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        388..416
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        721..739
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        751..769
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        781..798
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        838..861
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        881..902
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        914..939
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1204..1223
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1244..1260
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1272..1293
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1321..1347
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1443..1469
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1558..1579
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1627..1649
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1716..1739
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   DOMAIN          130..422
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   DOMAIN          508..667
FT                   /note="Voltage-gated Na+ ion channel cytoplasmic"
FT                   /evidence="ECO:0000259|Pfam:PF11933"
FT   DOMAIN          717..945
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   DOMAIN          953..1199
FT                   /note="Sodium ion transport-associated"
FT                   /evidence="ECO:0000259|Pfam:PF06512"
FT   DOMAIN          1203..1478
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   DOMAIN          1584..1749
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   REGION          28..56
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          461..591
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1005..1140
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1926..1983
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          413..451
FT                   /evidence="ECO:0000256|SAM:Coils"
FT   COMPBIAS        480..503
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        511..526
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1054..1068
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1089..1117
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1926..1961
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
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
//