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P35499

- SCN4A_HUMAN

UniProt

P35499 - SCN4A_HUMAN

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Protein

Sodium channel protein type 4 subunit alpha

Gene

SCN4A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle.

GO - Molecular functioni

  1. voltage-gated sodium channel activity Source: RefGenome

GO - Biological processi

  1. membrane depolarization during action potential Source: RefGenome
  2. muscle contraction Source: ProtInc
  3. neuronal action potential Source: RefGenome
  4. sodium ion transmembrane transport Source: RefGenome
  5. sodium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

Protein family/group databases

TCDBi1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 4 subunit alpha
Alternative name(s):
SkM1
Sodium channel protein skeletal muscle subunit alpha
Sodium channel protein type IV subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.4
Gene namesi
Name:SCN4A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:10591. SCN4A.

Subcellular locationi

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: RefGenome
  3. voltage-gated sodium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]: An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.14 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti270 – 2701Q → K in PMC. 2 Publications
VAR_054936
Natural varianti693 – 6931I → T in PMC. 1 Publication
VAR_065231
Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
VAR_001562
Natural varianti804 – 8041S → F in PMC. 1 Publication
VAR_001563
Natural varianti1152 – 11521A → D in PMC. 1 Publication
VAR_022341
Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
VAR_001565
Natural varianti1293 – 12931V → I in PMC; without cold paralysis. 1 Publication
VAR_001566
Natural varianti1306 – 13061G → A in PMC. 2 Publications
VAR_001567
Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
VAR_001568
Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
VAR_001569
Natural varianti1313 – 13131T → M in PMC. 2 Publications
VAR_001570
Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
VAR_001571
Natural varianti1436 – 14361L → P in PMC. 1 Publication
VAR_054947
Natural varianti1448 – 14481R → C in PMC. 2 Publications
VAR_001572
Natural varianti1448 – 14481R → H in PMC. 2 Publications
VAR_001573
Natural varianti1448 – 14481R → L in PMC. 1 Publication
VAR_054948
Natural varianti1456 – 14561G → E in PMC. 3 Publications
VAR_037107
Natural varianti1473 – 14731F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 1 Publication
VAR_054949
Natural varianti1589 – 15891V → M in PMC. 2 Publications
VAR_001574
Natural varianti1705 – 17051F → I in PMC; increases the extent of charge immobilization in response to strong depolarization.
VAR_054952
Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.9 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → W in HOKPP2. 1 Publication
VAR_054935
Natural varianti669 – 6691R → H in HOKPP2. 2 Publications
VAR_017788
Natural varianti672 – 6721R → C in HOKPP2. 2 Publications
VAR_054939
Natural varianti672 – 6721R → G in HOKPP2. 3 Publications
VAR_017789
Natural varianti672 – 6721R → H in HOKPP2. 3 Publications
VAR_017790
Natural varianti672 – 6721R → S in HOKPP2. 3 Publications
VAR_017791
Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
VAR_064987
Natural varianti1132 – 11321R → Q in HOKPP2. 1 Publication
VAR_054943
Natural varianti1135 – 11351R → H in HOKPP2. 1 Publication
VAR_054944
Natural varianti1158 – 11581P → S in HOKPP2. 1 Publication
VAR_017792
Periodic paralysis hyperkalemic (HYPP) [MIM:170500]: An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
VAR_001562
Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
VAR_054941
Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
VAR_001565
Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
VAR_001571
Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
VAR_001575
Periodic paralysis normokalemic (NKPP) [MIM:170500]: A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti675 – 6751R → G in NKPP. 1 Publication
VAR_037104
Natural varianti675 – 6751R → Q in NKPP. 2 Publications
VAR_037105
Natural varianti675 – 6751R → W in NKPP. 1 Publication
VAR_037106
Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
VAR_054941
Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
VAR_064987
Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
VAR_001575
Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]: A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 Publication
VAR_054934
Natural varianti225 – 2251R → W in MYOSCN4A. 1 Publication
VAR_065230
Natural varianti445 – 4451V → M in MYOSCN4A. 3 Publications
VAR_017786
Natural varianti452 – 4521E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 Publication
VAR_054937
Natural varianti671 – 6711F → S in MYOSCN4A. 1 Publication
VAR_054938
Natural varianti715 – 7151A → T in MYOSCN4A. 1 Publication
VAR_054940
Natural varianti804 – 8041S → N in MYOSCN4A. 1 Publication
VAR_054942
Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
VAR_001565
Natural varianti1160 – 11601I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 Publication
VAR_017793
Natural varianti1297 – 12971N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 Publication
VAR_054945
Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
VAR_001568
Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
VAR_001569
Natural varianti1310 – 13101I → N in MYOSCN4A. 1 Publication
VAR_054946
Natural varianti1476 – 14761M → I in MYOSCN4A; highly variable severity. 2 Publications
VAR_054950
Natural varianti1481 – 14811A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication
VAR_054951
Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR) [MIM:614198]: A congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1442 – 14421V → E in CMSAR. 1 Publication
VAR_017795

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi168300. phenotype.
170500. phenotype.
608390. phenotype.
613345. phenotype.
614198. phenotype.
Orphaneti99736. Acetazolamide-responsive myotonia.
682. Hyperkalemic periodic paralysis.
681. Hypokalemic periodic paralysis.
99734. Myotonia fluctuans.
99735. Myotonia permanens.
684. Paramyotonia congenita of Von Eulenburg.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA35006.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 18361836Sodium channel protein type 4 subunit alphaPRO_0000048495Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi288 – 2881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi291 – 2911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
Glycosylationi303 – 3031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi315 – 3151N-linked (GlcNAc...)Sequence Analysis
Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi362 – 3621N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1191 – 11911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1205 – 12051N-linked (GlcNAc...)Sequence Analysis
Modified residuei1328 – 13281Phosphoserine; by PKCBy similarity

Post-translational modificationi

Phosphorylation at Ser-1328 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP35499.
PRIDEiP35499.

PTM databases

PhosphoSiteiP35499.

Expressioni

Gene expression databases

BgeeiP35499.
CleanExiHS_SCN4A.
ExpressionAtlasiP35499. baseline and differential.
GenevestigatoriP35499.

Organism-specific databases

HPAiHPA053992.

Interactioni

Subunit structurei

Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi112234. 4 interactions.
STRINGi9606.ENSP00000396320.

Structurei

3D structure databases

ProteinModelPortaliP35499.
SMRiP35499. Positions 131-272, 388-451, 588-802, 1027-1296, 1346-1597, 1602-1754.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 128128CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini151 – 1588ExtracellularSequence Analysis
Topological domaini179 – 19012CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini211 – 2166ExtracellularSequence Analysis
Topological domaini237 – 25216CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini267 – 423157ExtracellularSequence AnalysisAdd
BLAST
Topological domaini450 – 573124CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini598 – 60811ExtracellularSequence AnalysisAdd
BLAST
Topological domaini633 – 6408CytoplasmicSequence Analysis
Topological domaini661 – 6666ExtracellularSequence Analysis
Topological domaini687 – 70115CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini725 – 77652ExtracellularSequence AnalysisAdd
BLAST
Topological domaini803 – 1026224CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1050 – 106314ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1090 – 10956CytoplasmicSequence Analysis
Topological domaini1117 – 11215ExtracellularSequence Analysis
Topological domaini1144 – 116219CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1185 – 126884ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1296 – 134853CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1373 – 138311ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1408 – 14136CytoplasmicSequence Analysis
Topological domaini1438 – 14469ExtracellularSequence Analysis
Topological domaini1470 – 148415CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1508 – 157366ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1599 – 1836238CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei129 – 15022Helical; Name=S1 of repeat ISequence AnalysisAdd
BLAST
Transmembranei159 – 17820Helical; Name=S2 of repeat ISequence AnalysisAdd
BLAST
Transmembranei191 – 21020Helical; Name=S3 of repeat ISequence AnalysisAdd
BLAST
Transmembranei217 – 23620Helical; Voltage-sensor; Name=S4 of repeat ISequence AnalysisAdd
BLAST
Transmembranei253 – 26614Helical; Name=S5 of repeat ISequence AnalysisAdd
BLAST
Transmembranei424 – 44926Helical; Name=S6 of repeat ISequence AnalysisAdd
BLAST
Transmembranei574 – 59724Helical; Name=S1 of repeat IISequence AnalysisAdd
BLAST
Transmembranei609 – 63224Helical; Name=S2 of repeat IISequence AnalysisAdd
BLAST
Transmembranei641 – 66020Helical; Name=S3 of repeat IISequence AnalysisAdd
BLAST
Transmembranei667 – 68620Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
BLAST
Transmembranei702 – 72423Helical; Name=S5 of repeat IISequence AnalysisAdd
BLAST
Transmembranei777 – 80226Helical; Name=S6 of repeat IISequence AnalysisAdd
BLAST
Transmembranei1027 – 104923Helical; Name=S1 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1064 – 108926Helical; Name=S2 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1096 – 111621Helical; Name=S3 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1122 – 114322Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1163 – 118422Helical; Name=S5 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1269 – 129527Helical; Name=S6 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1349 – 137224Helical; Name=S1 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1384 – 140724Helical; Name=S2 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1414 – 143724Helical; Name=S3 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1447 – 146923Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1485 – 150723Helical; Name=S5 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1574 – 159825Helical; Name=S6 of repeat IVSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati128 – 450323IAdd
BLAST
Repeati571 – 796226IIAdd
BLAST
Repeati1024 – 1281258IIIAdd
BLAST
Repeati1349 – 1595247IVAdd
BLAST
Domaini1727 – 175630IQPROSITE-ProRule annotationAdd
BLAST

Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Contains 1 IQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
GeneTreeiENSGT00760000118827.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiP35499.
KOiK04837.
PhylomeDBiP35499.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR028826. Na_channel_a4su.
IPR008052. Na_channel_a4su_mammal.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF193. PTHR10037:SF193. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01665. NACHANNEL4.
SMARTiSM00015. IQ. 1 hit.
[Graphical view]
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P35499-1 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP
60 70 80 90 100
ERKPRSDLEA GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK
110 120 130 140 150
AIFRFSATPA LYLLSPFSVV RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM
160 170 180 190 200
SDPPPWSKNV EYTFTGIYTF ESLIKILARG FCVDDFTFLR DPWNWLDFSV
210 220 230 240 250
IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV GALIQSVKKL
260 270 280 290 300
SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW
310 320 330 340 350
YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF
360 370 380 390 400
LEGSNDALLC GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF
410 420 430 440 450
RLMTQDYWEN LFQLTLRAAG KTYMIFFVVI IFLGSFYLIN LILAVVAMAY
460 470 480 490 500
AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE ELEKAKAAQA LEGGEADGDP
510 520 530 540 550
AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA HQKCPPWWYK
560 570 580 590 600
CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY
610 620 630 640 650
PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV
660 670 680 690 700
TLSLVELGLA NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL
710 720 730 740 750
GNLTLVLAII VFIFAVVGMQ LFGKSYKECV CKIALDCNLP RWHMHDFFHS
760 770 780 790 800
FLIVFRILCG EWIETMWDCM EVAGQAMCLT VFLMVMVIGN LVVLNLFLAL
810 820 830 840 850
LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL LGLLHGKILS
860 870 880 890 900
PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA
910 920 930 940 950
DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS
960 970 980 990 1000
KKPPQPLYDG NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ
1010 1020 1030 1040 1050
RWPCLYVDIS QGRGKKWWTL RRACFKIVEH NWFETFIVFM ILLSSGALAF
1060 1070 1080 1090 1100
EDIYIEQRRV IRTILEYADK VFTYIFIMEM LLKWVAYGFK VYFTNAWCWL
1110 1120 1130 1140 1150
DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL SRFEGMRVVV
1160 1170 1180 1190 1200
NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI
1210 1220 1230 1240 1250
SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM
1260 1270 1280 1290 1300
YAAVDSREKE EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ
1310 1320 1330 1340 1350
QKKKLGGKDI FMTEEQKKYY NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV
1360 1370 1380 1390 1400
TKQAFDITIM ILICLNMVTM MVETDNQSQL KVDILYNINM IFIIIFTGEC
1410 1420 1430 1440 1450
VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY FVSPTLFRVI
1460 1470 1480 1490 1500
RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG
1510 1520 1530 1540 1550
MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP
1560 1570 1580 1590 1600
PDCDPNLENP GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN
1610 1620 1630 1640 1650
FNVATEESSE PLGEDDFEMF YETWEKFDPD ATQFIAYSRL SDFVDTLQEP
1660 1670 1680 1690 1700
LRIAKPNKIK LITLDLPMVP GDKIHCLDIL FALTKEVLGD SGEMDALKQT
1710 1720 1730 1740 1750
MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR HLLQRSMKQA
1760 1770 1780 1790 1800
SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD
1810 1820 1830
AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV
Length:1,836
Mass (Da):208,061
Last modified:March 23, 2010 - v4
Checksum:iFA9A6B81B7C2D50F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 112VP → AR in AAA60554. (PubMed:1315496)Curated
Sequence conflicti371 – 3711E → K in AAA60554. (PubMed:1315496)Curated
Sequence conflicti371 – 3711E → Q in AAB59624. (PubMed:1315496)Curated
Sequence conflicti870 – 8701A → G in AAB59624. (PubMed:1315496)Curated
Sequence conflicti1151 – 11522NA → KP in AAB59624. (PubMed:1315496)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351M → V.
VAR_001560
Natural varianti141 – 1411I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 Publication
VAR_054934
Natural varianti222 – 2221R → W in HOKPP2. 1 Publication
VAR_054935
Natural varianti225 – 2251R → W in MYOSCN4A. 1 Publication
VAR_065230
Natural varianti246 – 2461S → L.1 Publication
VAR_017785
Natural varianti270 – 2701Q → K in PMC. 2 Publications
VAR_054936
Natural varianti445 – 4451V → M in MYOSCN4A. 3 Publications
VAR_017786
Natural varianti452 – 4521E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 Publication
VAR_054937
Natural varianti524 – 5241S → G.3 Publications
Corresponds to variant rs6504191 [ dbSNP | Ensembl ].
VAR_001561
Natural varianti559 – 5591N → D.2 Publications
Corresponds to variant rs1047705 [ dbSNP | Ensembl ].
VAR_017787
Natural varianti669 – 6691R → H in HOKPP2. 2 Publications
VAR_017788
Natural varianti671 – 6711F → S in MYOSCN4A. 1 Publication
VAR_054938
Natural varianti672 – 6721R → C in HOKPP2. 2 Publications
VAR_054939
Natural varianti672 – 6721R → G in HOKPP2. 3 Publications
VAR_017789
Natural varianti672 – 6721R → H in HOKPP2. 3 Publications
VAR_017790
Natural varianti672 – 6721R → S in HOKPP2. 3 Publications
VAR_017791
Natural varianti675 – 6751R → G in NKPP. 1 Publication
VAR_037104
Natural varianti675 – 6751R → Q in NKPP. 2 Publications
VAR_037105
Natural varianti675 – 6751R → W in NKPP. 1 Publication
VAR_037106
Natural varianti693 – 6931I → T in PMC. 1 Publication
VAR_065231
Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
VAR_001562
Natural varianti715 – 7151A → T in MYOSCN4A. 1 Publication
VAR_054940
Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
VAR_054941
Natural varianti804 – 8041S → F in PMC. 1 Publication
VAR_001563
Natural varianti804 – 8041S → N in MYOSCN4A. 1 Publication
VAR_054942
Natural varianti861 – 8611A → D.
VAR_001564
Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
VAR_064987
Natural varianti1132 – 11321R → Q in HOKPP2. 1 Publication
VAR_054943
Natural varianti1135 – 11351R → H in HOKPP2. 1 Publication
VAR_054944
Natural varianti1152 – 11521A → D in PMC. 1 Publication
VAR_022341
Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
VAR_001565
Natural varianti1158 – 11581P → S in HOKPP2. 1 Publication
VAR_017792
Natural varianti1160 – 11601I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 Publication
VAR_017793
Natural varianti1293 – 12931V → I in PMC; without cold paralysis. 1 Publication
VAR_001566
Natural varianti1297 – 12971N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 Publication
VAR_054945
Natural varianti1306 – 13061G → A in PMC. 2 Publications
VAR_001567
Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
VAR_001568
Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
VAR_001569
Natural varianti1310 – 13101I → N in MYOSCN4A. 1 Publication
VAR_054946
Natural varianti1313 – 13131T → M in PMC. 2 Publications
VAR_001570
Natural varianti1376 – 13761N → D.1 Publication
Corresponds to variant rs2058194 [ dbSNP | Ensembl ].
VAR_017794
Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
VAR_001571
Natural varianti1436 – 14361L → P in PMC. 1 Publication
VAR_054947
Natural varianti1442 – 14421V → E in CMSAR. 1 Publication
VAR_017795
Natural varianti1448 – 14481R → C in PMC. 2 Publications
VAR_001572
Natural varianti1448 – 14481R → H in PMC. 2 Publications
VAR_001573
Natural varianti1448 – 14481R → L in PMC. 1 Publication
VAR_054948
Natural varianti1456 – 14561G → E in PMC. 3 Publications
VAR_037107
Natural varianti1473 – 14731F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 1 Publication
VAR_054949
Natural varianti1476 – 14761M → I in MYOSCN4A; highly variable severity. 2 Publications
VAR_054950
Natural varianti1481 – 14811A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication
VAR_054951
Natural varianti1589 – 15891V → M in PMC. 2 Publications
VAR_001574
Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
VAR_001575
Natural varianti1705 – 17051F → I in PMC; increases the extent of charge immobilization in response to strong depolarization.
VAR_054952

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M81758 mRNA. Translation: AAA60554.1.
L04236
, L04216, L04217, L04218, L04219, L04220, L04221, L04222, L04223, L04224, L04225, L04226, L04227, L04228, L04229, L04230, L04231, L04232, L04233, L04234, L04235 Genomic DNA. Translation: AAB59624.1.
AY212253 mRNA. Translation: AAO83647.1.
L01983
, L01962, L01963, L01964, L01965, L01966, L01967, L01968, L01969, L01970, L01971, L01972, L01973, L01974, L01975, L01976, L01977, L01978, L01979, L01980, L01981, L01982 Genomic DNA. Translation: AAA75557.1. Sequence problems.
AC127029 Genomic DNA. No translation available.
S82622 Genomic DNA. Translation: AAB21450.2.
PIRiI51964.
I54323.
I64893.
JS0648.
RefSeqiNP_000325.4. NM_000334.4.
XP_005257623.1. XM_005257566.2.
UniGeneiHs.46038.

Genome annotation databases

GeneIDi6329.
KEGGihsa:6329.
UCSCiuc002jds.1. human.

Polymorphism databases

DMDMi292495096.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

SCN4A entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M81758 mRNA. Translation: AAA60554.1 .
L04236
, L04216 , L04217 , L04218 , L04219 , L04220 , L04221 , L04222 , L04223 , L04224 , L04225 , L04226 , L04227 , L04228 , L04229 , L04230 , L04231 , L04232 , L04233 , L04234 , L04235 Genomic DNA. Translation: AAB59624.1 .
AY212253 mRNA. Translation: AAO83647.1 .
L01983
, L01962 , L01963 , L01964 , L01965 , L01966 , L01967 , L01968 , L01969 , L01970 , L01971 , L01972 , L01973 , L01974 , L01975 , L01976 , L01977 , L01978 , L01979 , L01980 , L01981 , L01982 Genomic DNA. Translation: AAA75557.1 . Sequence problems.
AC127029 Genomic DNA. No translation available.
S82622 Genomic DNA. Translation: AAB21450.2 .
PIRi I51964.
I54323.
I64893.
JS0648.
RefSeqi NP_000325.4. NM_000334.4.
XP_005257623.1. XM_005257566.2.
UniGenei Hs.46038.

3D structure databases

ProteinModelPortali P35499.
SMRi P35499. Positions 131-272, 388-451, 588-802, 1027-1296, 1346-1597, 1602-1754.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112234. 4 interactions.
STRINGi 9606.ENSP00000396320.

Chemistry

ChEMBLi CHEMBL2331043.
DrugBanki DB00586. Diclofenac.
DB01195. Flecainide.
DB00818. Propofol.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi 581.

Protein family/group databases

TCDBi 1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei P35499.

Polymorphism databases

DMDMi 292495096.

Proteomic databases

PaxDbi P35499.
PRIDEi P35499.

Protocols and materials databases

DNASUi 6329.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 6329.
KEGGi hsa:6329.
UCSCi uc002jds.1. human.

Organism-specific databases

CTDi 6329.
GeneCardsi GC17M062015.
GeneReviewsi SCN4A.
H-InvDB HIX0039131.
HGNCi HGNC:10591. SCN4A.
HPAi HPA053992.
MIMi 168300. phenotype.
170500. phenotype.
603967. gene.
608390. phenotype.
613345. phenotype.
614198. phenotype.
neXtProti NX_P35499.
Orphaneti 99736. Acetazolamide-responsive myotonia.
682. Hyperkalemic periodic paralysis.
681. Hypokalemic periodic paralysis.
99734. Myotonia fluctuans.
99735. Myotonia permanens.
684. Paramyotonia congenita of Von Eulenburg.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBi PA35006.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
GeneTreei ENSGT00760000118827.
HOGENOMi HOG000231755.
HOVERGENi HBG053100.
InParanoidi P35499.
KOi K04837.
PhylomeDBi P35499.
TreeFami TF323985.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

GeneWikii Nav1.4.
GenomeRNAii 6329.
NextBioi 24570.
PROi P35499.
SOURCEi Search...

Gene expression databases

Bgeei P35499.
CleanExi HS_SCN4A.
ExpressionAtlasi P35499. baseline and differential.
Genevestigatori P35499.

Family and domain databases

Gene3Di 1.20.120.350. 4 hits.
InterProi IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR028826. Na_channel_a4su.
IPR008052. Na_channel_a4su_mammal.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view ]
PANTHERi PTHR10037:SF193. PTHR10037:SF193. 1 hit.
Pfami PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view ]
PRINTSi PR00170. NACHANNEL.
PR01665. NACHANNEL4.
SMARTi SM00015. IQ. 1 hit.
[Graphical view ]
PROSITEi PS50096. IQ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel."
    George A.L. Jr., Komisarof J., Kallen R.G., Barchi R.L.
    Ann. Neurol. 31:131-137(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS GLY-524; ASP-559 AND ASP-1376.
    Tissue: Skeletal muscle.
  2. "Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q."
    Wang J., Rojas C.V., Zhou J., Schwartz L.S., Nicholas H., Hoffmann E.P.
    Biochem. Biophys. Res. Commun. 182:794-801(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMSAR GLU-1442, VARIANTS LEU-246; GLY-524 AND ASP-559.
  4. "The genomic structure of the human skeletal muscle sodium channel gene."
    McClatchey A.I., Lin C.S., Wang J., Hoffman E.P., Rojas C.V., Gusella J.F.
    Hum. Mol. Genet. 1:521-527(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-524.
  5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita."
    McClatchey A.I., van den Bergh P., Pericak-Vance M.A., Raskind W., Verellen C., McKenna-Yasek D., Rao K., Haines J.L., Bird T., Brown R.H. Jr., Gusella J.F.
    Cell 68:769-774(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1305-1339, VARIANTS PMC VAL-1306 AND MET-1313.
  7. "Identification of a mutation in the gene causing hyperkalemic periodic paralysis."
    Ptacek L.J., George A.L. Jr., Griggs R.C., Tawil R., Kallen R.G., Barchi R.L., Robertson M., Leppert M.F.
    Cell 67:1021-1027(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPP MET-704.
  8. "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis."
    Rojas C.V., Wang J., Schwartz L.S., Hoffman E.P., Powell B.R., Brown R.H. Jr.
    Nature 354:387-389(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPP VAL-1592.
  9. "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel."
    McClatchey A.I., McKenna-Yasek D., Cros D., Worthen H.G., Kuncl R.W., Desilva S.M., Cornblath D.R., Gusella J.F., Brown R.H. Jr.
    Nat. Genet. 2:148-152(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PMC PHE-804 AND THR-1156.
  10. "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita."
    Ptacek L.J., George A.L. Jr., Barchi R.L., Griggs R.C., Riggs J.E., Robertson M., Leppert M.F.
    Neuron 8:891-897(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PMC CYS-1448 AND HIS-1448.
  11. "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis."
    Ptacek L.J., Gouw L., Kwiecinski H., McManis P., Mendell J.R., Barohn R.J., George A.L. Jr., Barchi R.L., Robertson M., Leppert M.F.
    Ann. Neurol. 33:300-307(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC/HYPP ARG-1433.
  12. "Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker."
    Lerche H., Heine R., Pika U., George A.L. Jr., Mitrovic N., Browatzki M., Weiss T., Rivet-Bastide M., Franke C., Lomonaco M., Ricker K., Lehmann-Horn F.
    J. Physiol. (Lond.) 470:13-22(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PMC ALA-1306; GLU-1306 AND VAL-1306.
  13. "A novel SCN4A mutation causing myotonia aggravated by cold and potassium."
    Heine R., Pika U., Lehmann-Horn F.
    Hum. Mol. Genet. 2:1349-1353(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC MET-1589.
  14. "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis."
    Ptacek L.J., Tawil R., Griggs R.C., Meola G., McManis P., Barohn R.J., Mendell J.R., Harris C., Spitzer R., Santiago F., Leppert M.F.
    Neurology 44:1500-1503(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A VAL-1160.
  15. "Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?"
    Baquero J.L., Ayala R.A., Wang J., Curless R.G., Feero W.G., Hoffman E.P., Ebeid M.R.
    Ann. Neurol. 37:408-411(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPP ILE-781.
  16. "Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)."
    Koch M.C., Baumbach K., George A.L. Jr., Ricker K.
    NeuroReport 6:2001-2004(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC ILE-1293.
  17. "A novel muscle sodium channel mutation causes painful congenital myotonia."
    Rosenfeld J., Sloan-Brown K., George A.L. Jr.
    Ann. Neurol. 42:811-814(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A MET-445.
  18. "A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg."
    Sasaki R., Takano H., Kamakura K., Kaida K., Hirata A., Saito M., Tanaka H., Kuzuhara S., Tsuji S.
    Arch. Neurol. 56:692-696(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC GLU-1456.
  19. "Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia."
    Wang D.W., VanDeCarr D., Ruben P.C., George A.L. Jr., Bennett P.B.
    FEBS Lett. 448:231-234(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A MET-445.
  20. "A novel sodium channel mutation in a family with hypokalemic periodic paralysis."
    Bulman D.E., Scoggan K.A., van Oene M.D., Nicolle M.W., Hahn A.F., Tollar L.L., Ebers G.C.
    Neurology 53:1932-1936(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HOKPP2 HIS-669.
  21. "Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita."
    Davies N.P., Eunson L.H., Gregory R.P., Mills K.R., Morrison P.J., Hanna M.G.
    J. Neurol. Neurosurg. Psych. 68:504-507(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC GLU-1456.
  22. "Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis."
    Sugiura Y., Aoki T., Sugiyama Y., Hida C., Ogata M., Yamamoto T.
    Neurology 54:2179-2181(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HOKPP2 SER-1158.
  23. "Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current."
    Jurkat-Rott K., Mitrovic N., Hang C., Kouzmekine A., Iaizzo P., Herzog J., Lerche H., Nicole S., Vale-Santos J., Chauveau D., Fontaine B., Lehmann-Horn F.
    Proc. Natl. Acad. Sci. U.S.A. 97:9549-9554(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HOKPP2 GLY-672 AND HIS-672.
  24. "Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis."
    Bendahhou S., Cummins T.R., Griggs R.C., Fu Y.H., Ptacek L.J.
    Ann. Neurol. 50:417-420(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HOKPP2 SER-672.
  25. "Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK."
    Davies N.P., Eunson L.H., Samuel M., Hanna M.G.
    Neurology 57:1323-1325(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HOKPP2 SER-672.
  26. "New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis."
    Vicart S., Sternberg D., Fournier E., Ochsner F., Laforet P., Kuntzer T., Eymard B., Hainque B., Fontaine B.
    Neurology 63:2120-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NKPP GLY-675; GLN-675 AND TRP-675.
  27. "A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation."
    Bouhours M., Luce S., Sternberg D., Willer J.-C., Fontaine B., Tabti N.
    J. Physiol. (Lond.) 565:415-427(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC ASP-1152.
  28. "Cold extends electromyography distinction between ion channel mutations causing myotonia."
    Fournier E., Viala K., Gervais H., Sternberg D., Arzel-Hezode M., Laforet P., Eymard B., Tabti N., Willer J.-C., Vial C., Fontaine B.
    Ann. Neurol. 60:356-365(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC LYS-270, VARIANTS MYOSCN4A THR-715; ASN-804 AND ASN-1310.
  29. "Autosomal dominant monosymptomatic myotonia permanens."
    Colding-Joergensen E., Duno M., Vissing J.
    Neurology 67:153-155(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A GLU-1306.
  30. "The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis."
    Kim J.-B., Kim M.-H., Lee S.J., Kim D.-J., Lee B.C.
    J. Korean Med. Sci. 22:946-951(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HOKPP2 HIS-669; CYS-672 AND GLY-672.
  31. "A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene."
    Schoser B.G.H., Schroeder J.M., Grimm T., Sternberg D., Kress W.
    Muscle Nerve 35:599-606(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A ASP-1481.
  32. "A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians."
    Rossignol E., Mathieu J., Thiffault I., Tetreault M., Dicaire M.J., Chrestian N., Dupre N., Puymirat J., Brais B.
    Neurology 69:1937-1941(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A ILE-1476.
  33. "Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene."
    Gay S., Dupuis D., Faivre L., Masurel-Paulet A., Labenne M., Colombani M., Soichot P., Huet F., Hainque B., Sternberg D., Fontaine B., Gouyon J.B., Thauvin-Robinet C.
    Am. J. Med. Genet. A 146:380-383(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A LYS-1297.
  34. "Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis."
    Xiuhai G., Weiping W., Ke Z., Hongbin W., Yiling S., Yanling M.
    Cell. Mol. Neurobiol. 28:653-661(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NKPP GLN-675; ILE-781 AND VAL-1592.
  35. "Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating."
    Groome J.R., Larsen M.F., Coonts A.
    Channels 2:39-50(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS PMC SER-1473 AND ILE-1705.
  36. "What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed."
    Matthews E., Tan S.V., Fialho D., Sweeney M.G., Sud R., Haworth A., Stanley E., Cea G., Davis M.B., Hanna M.G.
    Neurology 70:50-53(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436; CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589.
  37. "A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia."
    Petitprez S., Tiab L., Chen L., Kappeler L., Rosler K.M., Schorderet D., Abriel H., Burgunder J.M.
    Neurology 71:1669-1675(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MYOSCN4A VAL-141, CHARACTERIZATION OF VARIANT MYOSCN4A VAL-141.
  38. "Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy."
    Lee S.C., Kim H.S., Park Y.E., Choi Y.C., Park K.H., Kim D.S.
    J. Clin. Neurol. 5:186-191(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MYOSCN4A TRP-225; THR-1156 AND GLU-1306, VARIANT PMC THR-693, VARIANT HYPP THR-1156.
  39. "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians."
    Dupre N., Chrestian N., Bouchard J.-P., Rossignol E., Brunet D., Sternberg D., Brais B., Mathieu J., Puymirat J.
    Neuromuscul. Disord. 19:330-334(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MYOSCN4A MET-445; LYS-452; SER-671; VAL-1306 AND ILE-1476.
  40. "Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis."
    Matthews E., Labrum R., Sweeney M.G., Sud R., Haworth A., Chinnery P.F., Meola G., Schorge S., Kullmann D.M., Davis M.B., Hanna M.G.
    Neurology 72:1544-1547(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HOKPP2 TRP-222; CYS-672; GLY-672; HIS-672; SER-672; GLN-1132 AND HIS-1135.
  41. "Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A."
    Luan X., Chen B., Liu Y., Zheng R., Zhang W., Yuan Y.
    Neuropathology 29:579-584(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PMC MET-704.
  42. "Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene."
    Hong D., Luan X., Chen B., Zheng R., Zhang W., Wang Z., Yuan Y.
    J. Neurol. Neurosurg. Psych. 81:703-704(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NKPP GLN-1129, VARIANT HOKPP2 GLN-1129.
  43. "Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family."
    Incecik F., Herguner M.O., Altunbasak S., Lehman-Horn F.
    Turk. J. Pediatr. 52:409-410(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HOKPP2 HIS-672.

Entry informationi

Entry nameiSCN4A_HUMAN
AccessioniPrimary (citable) accession number: P35499
Secondary accession number(s): Q15478, Q16447, Q7Z6B1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 23, 2010
Last modified: October 29, 2014
This is version 153 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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