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Protein

Sodium channel protein

Gene

SCN5A

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mediates the voltage-dependent sodium ion permeability of excitable membranes.UniRule annotation

Caution

Lacks conserved residue(s) required for the propagation of feature annotation.UniRule annotation

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Sodium channelUniRule annotation, Voltage-gated channelUniRule annotation
Biological processIon transport, Sodium transport, Transport
LigandSodium

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel proteinUniRule annotation
Gene namesi
Name:SCN5AImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000183873.15
HGNCiHGNC:10593 SCN5A

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei127 – 149HelicalUniRule annotationAdd BLAST23
Transmembranei253 – 273HelicalUniRule annotationAdd BLAST21
Transmembranei388 – 416HelicalUniRule annotationAdd BLAST29
Transmembranei721 – 739HelicalUniRule annotationAdd BLAST19
Transmembranei751 – 769HelicalUniRule annotationAdd BLAST19
Transmembranei781 – 798HelicalUniRule annotationAdd BLAST18
Transmembranei838 – 861HelicalUniRule annotationAdd BLAST24
Transmembranei881 – 902HelicalUniRule annotationAdd BLAST22
Transmembranei914 – 939HelicalUniRule annotationAdd BLAST26
Transmembranei1204 – 1223HelicalUniRule annotationAdd BLAST20
Transmembranei1244 – 1260HelicalUniRule annotationAdd BLAST17
Transmembranei1272 – 1293HelicalUniRule annotationAdd BLAST22
Transmembranei1321 – 1347HelicalUniRule annotationAdd BLAST27
Transmembranei1443 – 1469HelicalUniRule annotationAdd BLAST27
Transmembranei1558 – 1579HelicalUniRule annotationAdd BLAST22
Transmembranei1627 – 1649HelicalUniRule annotationAdd BLAST23
Transmembranei1716 – 1739HelicalUniRule annotationAdd BLAST24

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000183873

PTM / Processingi

Proteomic databases

PeptideAtlasiE9PHB6
PRIDEiE9PHB6

Expressioni

Gene expression databases

BgeeiENSG00000183873 Expressed in 91 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiE9PHB6 baseline and differential
GenevisibleiE9PHB6 HS

Structurei

3D structure databases

ProteinModelPortaliE9PHB6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 422Ion_transInterPro annotationAdd BLAST293
Domaini478 – 667Na_trans_cytoplInterPro annotationAdd BLAST190
Domaini718 – 943Ion_transInterPro annotationAdd BLAST226
Domaini953 – 1199Na_trans_assocInterPro annotationAdd BLAST247
Domaini1203 – 1478Ion_transInterPro annotationAdd BLAST276
Domaini1585 – 1749Ion_transInterPro annotationAdd BLAST165

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili413 – 451Sequence analysisAdd BLAST39

Sequence similaritiesi

Belongs to the sodium channel (TC 1.A.1.10) family. [View classification]UniRule annotation

Keywords - Domaini

Coiled coilSequence analysis, Transmembrane, Transmembrane helixUniRule annotationSAAS annotation

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128242

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR008053 Na_channel_a5su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR024583 Na_trans_cytopl
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PF06512 Na_trans_assoc, 1 hit
PF11933 Na_trans_cytopl, 1 hit
PRINTSiPR00170 NACHANNEL
PR01666 NACHANNEL5

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

E9PHB6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE
60 70 80 90 100
APRPQLDLQA SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK
110 120 130 140 150
TIFRFSATNA LYVLSPFHPI RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ
160 170 180 190 200
HDPPPWTKYV EYTFTAIYTF ESLVKILARG FCLHAFTFLR DPWNWLDFSV
210 220 230 240 250
IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV GALIQSVKKL
260 270 280 290 300
ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV
310 320 330 340 350
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH
360 370 380 390 400
GYTSFDSFAW AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG
410 420 430 440 450
SFYLVNLILA VVAMAYEEQN QATIAETEEK EKRFQEAMEM LKKEHEALTI
460 470 480 490 500
RGVDTVSRSS LEMSPLAPVN SHERRSKRRK RMSSGTEECG EDRLPKSDSE
510 520 530 540 550
DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE ADFADDENST
560 570 580 590 600
AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV
610 620 630 640 650
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV
660 670 680 690 700
DGFEEPGARQ RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC
710 720 730 740 750
PLWMSIKQGV KLVVMDPFTD LTITMCIVLN TLFMALEHYN MTSEFEEMLQ
760 770 780 790 800
VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG WNIFDSIIVI LSLMELGLSR
810 820 830 840 850
MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG NLTLVLAIIV
860 870 880 890 900
FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI
910 920 930 940 950
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP
960 970 980 990 1000
DEDREMNNLQ LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ
1010 1020 1030 1040 1050
LPSCIATPYS PPPPETEKVP PTRKETRFEE GEQPGQGTPG DPEPVCVPIA
1060 1070 1080 1090 1100
VAESDTDDQE EDEENSLGTE EESSKQESQP VSGGPEAPPD SRTWSQVSAT
1110 1120 1130 1140 1150
ASSEAEASAS QADWRQQWKA EPQAPGCGET PEDSCSEGST ADMTNTAELL
1160 1170 1180 1190 1200
EQIPDLGQDV KDPEDCFTEG CVRRCPCCAV DTTQAPGKVW WRLRKTCYHI
1210 1220 1230 1240 1250
VEHSWFETFI IFMILLSSGA LAFEDIYLEE RKTIKVLLEY ADKMFTYVFV
1260 1270 1280 1290 1300
LEMLLKWVAY GFKKYFTNAW CWLDFLIVDV SLVSLVANTL GFAEMGPIKS
1310 1320 1330 1340 1350
LRTLRALRPL RALSRFEGMR VVVNALVGAI PSIMNVLLVC LIFWLIFSIM
1360 1370 1380 1390 1400
GVNLFAGKFG RCINQTEGDL PLNYTIVNNK SQCESLNLTG ELYWTKVKVN
1410 1420 1430 1440 1450
FDNVGAGYLA LLQVATFKGW MDIMYAAVDS RGYEEQPQWE YNLYMYIYFV
1460 1470 1480 1490 1500
IFIIFGSFFT LNLFIGVIID NFNQQKKKLG GQDIFMTEEQ KKYYNAMKKL
1510 1520 1530 1540 1550
GSKKPQKPIP RPLNKYQGFI FDIVTKQAFD VTIMFLICLN MVTMMVETDD
1560 1570 1580 1590 1600
QSPEKINILA KINLLFVAIF TGTVLSDIIQ KYFFSPTLFR VIRLARIGRI
1610 1620 1630 1640 1650
LRLIRGAKGI RTLLFALMMS LPALFNIGLL LFLVMFIYSI FGMANFAYVK
1660 1670 1680 1690 1700
WEAGIDDMFN FQTFANSMLC LFQITTSAGW DGLLSPILNT GPPYCDPTLP
1710 1720 1730 1740 1750
NSNGSRGDCG SPAVGILFFT TYIIISFLIV VNMYIAIILE NFSVATEEST
1760 1770 1780 1790 1800
EPLSEDDFDM FYEIWEKFDP EATQFIEYSV LSDFADALSE PLRIAKPNQI
1810 1820 1830 1840 1850
SLINMDLPMV SGDRIHCMDI LFAFTKRVLG ESGEMDALKI QMEEKFMAAN
1860 1870 1880 1890 1900
PSKISYEPIT TTLRRKHEEV SAMVIQRAFR RHLLQRSLKH ASFLFRQQAG
1910 1920 1930 1940 1950
SGLSEEDAPE REGLIAYVMS ENFSRPLGPP SSSSISSTSF PPSYDSVTRA
1960 1970 1980
TSDNLQVRGS DYSHSEDLAD FPPSPDRDRE SIV
Length:1,983
Mass (Da):223,100
Last modified:April 5, 2011 - v1
Checksum:i579B086E9266CFDD
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q14524SCN5A_HUMAN
Sodium channel protein type 5 subun...
SCN5A
2,016Annotation score:
H9KVD2H9KVD2_HUMAN
Sodium channel protein
SCN5A
2,016Annotation score:
K4DIA1K4DIA1_HUMAN
Sodium channel protein
SCN5A
1,962Annotation score:
E9PG18E9PG18_HUMAN
Sodium channel protein
SCN5A
1,998Annotation score:
A0A0A0MT39A0A0A0MT39_HUMAN
Sodium channel protein
SCN5A
1,962Annotation score:
Q86V90Q86V90_HUMAN
SCN5A protein
SCN5A
223Annotation score:
A3EY21A3EY21_HUMAN
Cardiac sodium channel alpha subuni...
SCN5A
65Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006241 Genomic DNA No translation available.
RefSeqiNP_001153632.1, NM_001160160.1
UniGeneiHs.517898

Genome annotation databases

EnsembliENST00000455624; ENSP00000399524; ENSG00000183873
GeneIDi6331
UCSCiuc062ihj.1 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006241 Genomic DNA No translation available.
RefSeqiNP_001153632.1, NM_001160160.1
UniGeneiHs.517898

3D structure databases

ProteinModelPortaliE9PHB6
ModBaseiSearch...
MobiDBiSearch...

Proteomic databases

PeptideAtlasiE9PHB6
PRIDEiE9PHB6

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000455624; ENSP00000399524; ENSG00000183873
GeneIDi6331
UCSCiuc062ihj.1 human

Organism-specific databases

CTDi6331
EuPathDBiHostDB:ENSG00000183873.15
HGNCiHGNC:10593 SCN5A
OpenTargetsiENSG00000183873
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128242

Miscellaneous databases

ChiTaRSiSCN5A human
GenomeRNAii6331

Gene expression databases

BgeeiENSG00000183873 Expressed in 91 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiE9PHB6 baseline and differential
GenevisibleiE9PHB6 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR008053 Na_channel_a5su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR024583 Na_trans_cytopl
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PF06512 Na_trans_assoc, 1 hit
PF11933 Na_trans_cytopl, 1 hit
PRINTSiPR00170 NACHANNEL
PR01666 NACHANNEL5
ProtoNetiSearch...

Entry informationi

Entry nameiE9PHB6_HUMAN
AccessioniPrimary (citable) accession number: E9PHB6
Entry historyiIntegrated into UniProtKB/TrEMBL: April 5, 2011
Last sequence update: April 5, 2011
Last modified: September 12, 2018
This is version 63 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Proteomics identificationCombined sources, Reference proteomeImported
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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