ID   E9PG18_HUMAN            Unreviewed;      1998 AA.
AC   E9PG18;
DT   05-APR-2011, integrated into UniProtKB/TrEMBL.
DT   05-APR-2011, sequence version 1.
DT   27-MAR-2024, entry version 104.
DE   RecName: Full=Sodium channel protein {ECO:0000256|RuleBase:RU361132};
GN   Name=SCN5A {ECO:0000313|Ensembl:ENSP00000398962.2};
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:ENSP00000398962.2, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000398962.2, 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:ENSP00000398962.2}
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_001092875.1; NM_001099405.1.
DR   SMR; E9PG18; -.
DR   MassIVE; E9PG18; -.
DR   PeptideAtlas; E9PG18; -.
DR   ProteomicsDB; 20223; -.
DR   Antibodypedia; 6411; 364 antibodies from 32 providers.
DR   DNASU; 6331; -.
DR   Ensembl; ENST00000414099.6; ENSP00000398962.2; ENSG00000183873.18.
DR   GeneID; 6331; -.
DR   UCSC; uc062ihd.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; E9PG18; 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.
PE   3: Inferred from homology;
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   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        1205..1224
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1245..1261
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1273..1294
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1322..1348
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1426..1452
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1511..1529
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1541..1563
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1575..1591
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1628..1656
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1731..1754
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..1200
FT                   /note="Sodium ion transport-associated"
FT                   /evidence="ECO:0000259|Pfam:PF06512"
FT   DOMAIN          1204..1461
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   DOMAIN          1510..1764
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..1141
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1941..1998
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        1090..1118
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1941..1976
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   1998 AA;  224941 MW;  031201CCBB9FC8D7 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 EESSKQQESQ
     PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS
     TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH
     IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA
     YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM
     RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN
     KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVYEEQP QWEYNLYMYI YFVIFIIFGS
     FFTLNLFIGV IIDNFNQQKK KLGGQDIFMT EEQKKYYNAM KKLGSKKPQK PIPRPLNKYQ
     GFIFDIVTKQ AFDVTIMFLI CLNMVTMMVE TDDQSPEKIN ILAKINLLFV AIFTGECIVK
     LAALRHYYFT NSWNIFDFVV VILSIVGTVL SDIIQKYFFS PTLFRVIRLA RIGRILRLIR
     GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIYSIFGMAN FAYVKWEAGI DDMFNFQTFA
     NSMLCLFQIT TSAGWDGLLS PILNTGPPYC DPTLPNSNGS RGDCGSPAVG ILFFTTYIII
     SFLIVVNMYI AIILENFSVA TEESTEPLSE DDFDMFYEIW EKFDPEATQF IEYSVLSDFA
     DALSEPLRIA KPNQISLINM DLPMVSGDRI HCMDILFAFT KRVLGESGEM DALKIQMEEK
     FMAANPSKIS YEPITTTLRR KHEEVSAMVI QRAFRRHLLQ RSLKHASFLF RQQAGSGLSE
     EDAPEREGLI AYVMSENFSR PLGPPSSSSI SSTSFPPSYD SVTRATSDNL QVRGSDYSHS
     EDLADFPPSP DRDRESIV
//