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Protein

Sodium channel protein

Gene

SCN5A

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 2 out of 5-Protein inferred from homologyi

Functioni

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

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channelUniRule annotation, Voltage-gated channelUniRule annotation

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

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

HGNCiHGNC:10593. SCN5A.

Subcellular locationi

  • Cell membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

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
Transmembranei1205 – 1224HelicalUniRule annotationAdd BLAST20
Transmembranei1245 – 1261HelicalUniRule annotationAdd BLAST17
Transmembranei1273 – 1294HelicalUniRule annotationAdd BLAST22
Transmembranei1322 – 1348HelicalUniRule annotationAdd BLAST27
Transmembranei1444 – 1470HelicalUniRule annotationAdd BLAST27
Transmembranei1529 – 1547HelicalUniRule annotationAdd BLAST19
Transmembranei1559 – 1581HelicalUniRule annotationAdd BLAST23
Transmembranei1593 – 1609HelicalUniRule annotationAdd BLAST17
Transmembranei1646 – 1674HelicalUniRule annotationAdd BLAST29
Transmembranei1749 – 1772HelicalUniRule annotationAdd BLAST24

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000183873.

PTM / Processingi

Proteomic databases

PaxDbiH9KVD2.
PRIDEiH9KVD2.

Expressioni

Gene expression databases

BgeeiENSG00000183873.
ExpressionAtlasiH9KVD2. baseline and differential.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000328968.

Structurei

3D structure databases

ProteinModelPortaliH9KVD2.
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 – 1200Na_trans_assocInterPro annotationAdd BLAST248
Domaini1204 – 1479Ion_transInterPro annotationAdd BLAST276
Domaini1528 – 1782Ion_transInterPro annotationAdd BLAST255

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.
KOiK04838.
OMAiTSMKPRS.
PhylomeDBiH9KVD2.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR008053. Na_channel_a5su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01666. NACHANNEL5.

Sequencei

Sequence statusi: Complete.

H9KVD2-1 [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 EESSKQQESQ PVSGGPEAPP DSRTWSQVSA
1110 1120 1130 1140 1150
TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS TADMTNTAEL
1160 1170 1180 1190 1200
LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH
1210 1220 1230 1240 1250
IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF
1260 1270 1280 1290 1300
VLEMLLKWVA YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK
1310 1320 1330 1340 1350
SLRTLRALRP LRALSRFEGM RVVVNALVGA IPSIMNVLLV CLIFWLIFSI
1360 1370 1380 1390 1400
MGVNLFAGKF GRCINQTEGD LPLNYTIVNN KSQCESLNLT GELYWTKVKV
1410 1420 1430 1440 1450
NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW EYNLYMYIYF
1460 1470 1480 1490 1500
VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK
1510 1520 1530 1540 1550
LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD
1560 1570 1580 1590 1600
DQSPEKINIL AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI
1610 1620 1630 1640 1650
LSIVGTVLSD IIQKYFFSPT LFRVIRLARI GRILRLIRGA KGIRTLLFAL
1660 1670 1680 1690 1700
MMSLPALFNI GLLLFLVMFI YSIFGMANFA YVKWEAGIDD MFNFQTFANS
1710 1720 1730 1740 1750
MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG DCGSPAVGIL
1760 1770 1780 1790 1800
FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK
1810 1820 1830 1840 1850
FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC
1860 1870 1880 1890 1900
MDILFAFTKR VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH
1910 1920 1930 1940 1950
EEVSAMVIQR AFRRHLLQRS LKHASFLFRQ QAGSGLSEED APEREGLIAY
1960 1970 1980 1990 2000
VMSENFSRPL GPPSSSSISS TSFPPSYDSV TRATSDNLQV RGSDYSHSED
2010
LADFPPSPDR DRESIV
Length:2,016
Mass (Da):226,942
Last modified:May 16, 2012 - v1
Checksum:i5045BF4689B56B1A
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006241 Genomic DNA. No translation available.
RefSeqiNP_001092874.1. NM_001099404.1.
UniGeneiHs.517898.

Genome annotation databases

EnsembliENST00000413689; ENSP00000410257; ENSG00000183873.
GeneIDi6331.
KEGGihsa:6331.
UCSCiuc062ihf.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006241 Genomic DNA. No translation available.
RefSeqiNP_001092874.1. NM_001099404.1.
UniGeneiHs.517898.

3D structure databases

ProteinModelPortaliH9KVD2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000328968.

Proteomic databases

PaxDbiH9KVD2.
PRIDEiH9KVD2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000413689; ENSP00000410257; ENSG00000183873.
GeneIDi6331.
KEGGihsa:6331.
UCSCiuc062ihf.1. human.

Organism-specific databases

CTDi6331.
HGNCiHGNC:10593. SCN5A.
OpenTargetsiENSG00000183873.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
KOiK04838.
OMAiTSMKPRS.
PhylomeDBiH9KVD2.
TreeFamiTF323985.

Miscellaneous databases

GenomeRNAii6331.

Gene expression databases

BgeeiENSG00000183873.
ExpressionAtlasiH9KVD2. baseline and differential.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR008053. Na_channel_a5su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01666. NACHANNEL5.
ProtoNetiSearch...

Entry informationi

Entry nameiH9KVD2_HUMAN
AccessioniPrimary (citable) accession number: H9KVD2
Entry historyi
Integrated into UniProtKB/TrEMBL: May 16, 2012
Last sequence update: May 16, 2012
Last modified: November 2, 2016
This is version 42 of the entry and version 1 of the sequence. [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

Caution

Lacks conserved residue(s) required for the propagation of feature annotation.UniRule annotation
The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.Imported

Keywords - Technical termi

Complete proteome, Reference proteomeImported

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.