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Database: UniProt
Entry: A0A0A0MT39_HUMAN
LinkDB: A0A0A0MT39_HUMAN
Original site: A0A0A0MT39_HUMAN 
ID   A0A0A0MT39_HUMAN        Unreviewed;      1962 AA.
AC   A0A0A0MT39;
DT   07-JAN-2015, integrated into UniProtKB/TrEMBL.
DT   07-JAN-2015, sequence version 1.
DT   24-JAN-2024, entry version 61.
DE   RecName: Full=Sodium channel protein {ECO:0000256|RuleBase:RU361132};
GN   Name=SCN5A {ECO:0000313|Ensembl:ENSP00000413996.2};
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:ENSP00000413996.2, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000413996.2, 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:ENSP00000413996.2}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (SEP-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; XP_016862506.1; XM_017007017.1.
DR   SMR; A0A0A0MT39; -.
DR   MassIVE; A0A0A0MT39; -.
DR   PeptideAtlas; A0A0A0MT39; -.
DR   Antibodypedia; 6411; 364 antibodies from 32 providers.
DR   DNASU; 6331; -.
DR   Ensembl; ENST00000449557.6; ENSP00000413996.2; ENSG00000183873.18.
DR   UCSC; uc062ihl.1; human.
DR   HGNC; HGNC:10593; SCN5A.
DR   VEuPathDB; HostDB:ENSG00000183873; -.
DR   GeneTree; ENSGT00940000161691; -.
DR   HOGENOM; CLU_000540_5_0_1; -.
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; A0A0A0MT39; 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   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|ARBA:ARBA00023303, 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:A0A0A0MT39,
KW   ECO:0007829|PeptideAtlas:A0A0A0MT39};
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        198..218
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        230..247
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        1151..1170
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1191..1207
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1219..1240
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1268..1294
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1390..1416
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1475..1493
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1505..1527
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1539..1555
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1592..1620
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|RuleBase:RU361132"
FT   TRANSMEM        1695..1718
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..1146
FT                   /note="Sodium ion transport-associated"
FT                   /evidence="ECO:0000259|Pfam:PF06512"
FT   DOMAIN          1150..1425
FT                   /note="Ion transport"
FT                   /evidence="ECO:0000259|Pfam:PF00520"
FT   DOMAIN          1474..1728
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..1087
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1905..1962
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        1905..1940
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   1962 AA;  221301 MW;  F05124A77182A1AF CRC64;
     MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA
     SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI
     RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG
     FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV
     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 EESSKQTPED
     SCSEGSTADM TNTAELLEQI PDLGQDVKDP EDCFTEGCVR RCPCCAVDTT QAPGKVWWRL
     RKTCYHIVEH SWFETFIIFM ILLSSGALAF EDIYLEERKT IKVLLEYADK MFTYVFVLEM
     LLKWVAYGFK KYFTNAWCWL DFLIVDVSLV SLVANTLGFA EMGPIKSLRT LRALRPLRAL
     SRFEGMRVVV NALVGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFGRCI NQTEGDLPLN
     YTIVNNKSQC ESLNLTGELY WTKVKVNFDN VGAGYLALLQ VATFKGWMDI MYAAVDSRGY
     EEQPQWEYNL YMYIYFVIFI IFGSFFTLNL FIGVIIDNFN QQKKKLGGQD IFMTEEQKKY
     YNAMKKLGSK KPQKPIPRPL NKYQGFIFDI VTKQAFDVTI MFLICLNMVT MMVETDDQSP
     EKINILAKIN LLFVAIFTGE CIVKLAALRH YYFTNSWNIF DFVVVILSIV GTVLSDIIQK
     YFFSPTLFRV IRLARIGRIL RLIRGAKGIR TLLFALMMSL PALFNIGLLL FLVMFIYSIF
     GMANFAYVKW EAGIDDMFNF QTFANSMLCL FQITTSAGWD GLLSPILNTG PPYCDPTLPN
     SNGSRGDCGS PAVGILFFTT YIIISFLIVV NMYIAIILEN FSVATEESTE PLSEDDFDMF
     YEIWEKFDPE ATQFIEYSVL SDFADALSEP LRIAKPNQIS LINMDLPMVS GDRIHCMDIL
     FAFTKRVLGE SGEMDALKIQ MEEKFMAANP SKISYEPITT TLRRKHEEVS AMVIQRAFRR
     HLLQRSLKHA SFLFRQQAGS GLSEEDAPER EGLIAYVMSE NFSRPLGPPS SSSISSTSFP
     PSYDSVTRAT SDNLQVRGSD YSHSEDLADF PPSPDRDRES IV
//
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