UniProtKB - Q9UI33 (SCNBA_HUMAN)
Protein
Sodium channel protein type 11 subunit alpha
Gene
SCN11A
Organism
Homo sapiens (Human)
Status
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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.2 Publications
GO - Molecular functioni
- voltage-gated ion channel activity Source: UniProtKB-KW
- voltage-gated sodium channel activity Source: GO_Central
GO - Biological processi
- membrane depolarization during action potential Source: GO_Central
- neuronal action potential Source: GO_Central
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of sensory perception of pain Source: UniProtKB
- response to drug Source: ProtInc
- sodium ion transmembrane transport Source: GO_Central
- sodium ion transport Source: ProtInc
Keywordsi
Molecular function | Ion channel, Sodium channel, Voltage-gated channel |
Biological process | Ion transport, Sodium transport, Transport |
Ligand | Sodium |
Enzyme and pathway databases
PathwayCommonsi | Q9UI33 |
Reactomei | R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-5576892, Phase 0 - rapid depolarisation |
SIGNORi | Q9UI33 |
Protein family/group databases
TCDBi | 1.A.1.10.9, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium channel protein type 11 subunit alphaAlternative name(s): Peripheral nerve sodium channel 5 Short name: PN5 Sensory neuron sodium channel 2 Sodium channel protein type XI subunit alpha Voltage-gated sodium channel subunit alpha Nav1.9 hNaN |
Gene namesi | Name:SCN11A Synonyms:SCN12A, SNS2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10583, SCN11A |
MIMi | 604385, gene |
neXtProti | NX_Q9UI33 |
VEuPathDBi | HostDB:ENSG00000168356.11 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- voltage-gated sodium channel complex Source: GO_Central
Other locations
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 126 | CytoplasmicCuratedAdd BLAST | 126 | |
Transmembranei | 127 – 148 | Helical; Name=S1 of repeat IBy similarityAdd BLAST | 22 | |
Topological domaini | 149 – 156 | ExtracellularCurated | 8 | |
Transmembranei | 157 – 180 | Helical; Name=S2 of repeat IBy similarityAdd BLAST | 24 | |
Topological domaini | 181 – 192 | CytoplasmicCuratedAdd BLAST | 12 | |
Transmembranei | 193 – 212 | Helical; Name=S3 of repeat IBy similarityAdd BLAST | 20 | |
Topological domaini | 213 – 219 | ExtracellularCurated | 7 | |
Transmembranei | 220 – 239 | Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd BLAST | 20 | |
Topological domaini | 240 – 255 | CytoplasmicCuratedAdd BLAST | 16 | |
Transmembranei | 256 – 269 | Helical; Name=S5 of repeat IBy similarityAdd BLAST | 14 | |
Topological domaini | 270 – 344 | ExtracellularCuratedAdd BLAST | 75 | |
Intramembranei | 345 – 369 | Pore-formingBy similarityAdd BLAST | 25 | |
Topological domaini | 370 – 376 | ExtracellularCurated | 7 | |
Transmembranei | 377 – 402 | Helical; Name=S6 of repeat IBy similarityAdd BLAST | 26 | |
Topological domaini | 403 – 572 | CytoplasmicCuratedAdd BLAST | 170 | |
Transmembranei | 573 – 596 | Helical; Name=S1 of repeat IIBy similarityAdd BLAST | 24 | |
Topological domaini | 597 – 607 | ExtracellularCuratedAdd BLAST | 11 | |
Transmembranei | 608 – 631 | Helical; Name=S2 of repeat IIBy similarityAdd BLAST | 24 | |
Topological domaini | 632 – 639 | CytoplasmicCurated | 8 | |
Transmembranei | 640 – 659 | Helical; Name=S3 of repeat IIBy similarityAdd BLAST | 20 | |
Topological domaini | 660 – 667 | ExtracellularCurated | 8 | |
Transmembranei | 668 – 687 | Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd BLAST | 20 | |
Topological domaini | 688 – 702 | CytoplasmicCuratedAdd BLAST | 15 | |
Transmembranei | 703 – 725 | Helical; Name=S5 of repeat IIBy similarityAdd BLAST | 23 | |
Topological domaini | 726 – 753 | ExtracellularCuratedAdd BLAST | 28 | |
Intramembranei | 754 – 774 | Pore-formingBy similarityAdd BLAST | 21 | |
Topological domaini | 775 – 785 | ExtracellularCuratedAdd BLAST | 11 | |
Transmembranei | 786 – 811 | Helical; Name=S6 of repeat IIBy similarityAdd BLAST | 26 | |
Topological domaini | 812 – 1051 | CytoplasmicCuratedAdd BLAST | 240 | |
Transmembranei | 1052 – 1074 | Helical; Name=S1 of repeat IIIBy similarityAdd BLAST | 23 | |
Topological domaini | 1075 – 1088 | ExtracellularCuratedAdd BLAST | 14 | |
Transmembranei | 1089 – 1114 | Helical; Name=S2 of repeat IIIBy similarityAdd BLAST | 26 | |
Topological domaini | 1115 – 1120 | CytoplasmicCurated | 6 | |
Transmembranei | 1121 – 1138 | Helical; Name=S3 of repeat IIIBy similarityAdd BLAST | 18 | |
Topological domaini | 1139 | ExtracellularCurated | 1 | |
Transmembranei | 1140 – 1161 | Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd BLAST | 22 | |
Topological domaini | 1162 – 1180 | CytoplasmicCuratedAdd BLAST | 19 | |
Transmembranei | 1181 – 1202 | Helical; Name=S5 of repeat IIIBy similarityAdd BLAST | 22 | |
Topological domaini | 1203 – 1243 | ExtracellularCuratedAdd BLAST | 41 | |
Intramembranei | 1244 – 1265 | Pore-formingBy similarityAdd BLAST | 22 | |
Topological domaini | 1266 – 1281 | ExtracellularCuratedAdd BLAST | 16 | |
Transmembranei | 1282 – 1308 | Helical; Name=S6 of repeat IIIBy similarityAdd BLAST | 27 | |
Topological domaini | 1309 – 1361 | CytoplasmicCuratedAdd BLAST | 53 | |
Transmembranei | 1362 – 1385 | Helical; Name=S1 of repeat IVBy similarityAdd BLAST | 24 | |
Topological domaini | 1386 – 1396 | ExtracellularCuratedAdd BLAST | 11 | |
Transmembranei | 1397 – 1420 | Helical; Name=S2 of repeat IVBy similarityAdd BLAST | 24 | |
Topological domaini | 1421 – 1426 | CytoplasmicCurated | 6 | |
Transmembranei | 1427 – 1450 | Helical; Name=S3 of repeat IVBy similarityAdd BLAST | 24 | |
Topological domaini | 1451 – 1461 | ExtracellularCuratedAdd BLAST | 11 | |
Transmembranei | 1462 – 1484 | Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd BLAST | 23 | |
Topological domaini | 1485 – 1499 | CytoplasmicCuratedAdd BLAST | 15 | |
Transmembranei | 1500 – 1522 | Helical; Name=S5 of repeat IVBy similarityAdd BLAST | 23 | |
Topological domaini | 1523 – 1536 | ExtracellularCuratedAdd BLAST | 14 | |
Intramembranei | 1537 – 1559 | Pore-formingBy similarityAdd BLAST | 23 | |
Topological domaini | 1560 – 1579 | ExtracellularCuratedAdd BLAST | 20 | |
Transmembranei | 1580 – 1604 | Helical; Name=S6 of repeat IVBy similarityAdd BLAST | 25 | |
Topological domaini | 1605 – 1791 | CytoplasmicCuratedAdd BLAST | 187 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Neuropathy, hereditary sensory and autonomic, 7 (HSAN7)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070921 | 811 | L → P in HSAN7; results in excessive channel activity at resting voltages; causes sustained depolarization of nociceptors and impaired generation of action potentials; causes aberrant synaptic transmission; causes transient hyperexcitability of dorsal root ganglion neurons. 2 PublicationsCorresponds to variant dbSNP:rs483352920EnsemblClinVar. | 1 | |
Natural variantiVAR_075250 | 1184 | V → A in HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons. 1 Publication | 1 |
Episodic pain syndrome, familial, 3 (FEPS3)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076679 | 222 | R → H in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs1230622899Ensembl. | 1 | |
Natural variantiVAR_076680 | 222 | R → S in FEPS3. 1 Publication | 1 | |
Natural variantiVAR_070919 | 225 | R → C in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs138607170EnsemblClinVar. | 1 | |
Natural variantiVAR_076682 | 381 | I → T in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; depolarizes resting membrane potential; enhances spontaneous firing; hyperpolarizes channel activation; slows deactivation; decreases rates of current decay; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs606231280EnsemblClinVar. | 1 | |
Natural variantiVAR_076686 | 699 | G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant dbSNP:rs145734191EnsemblClinVar. | 1 | |
Natural variantiVAR_070920 | 808 | A → G in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs483352921EnsemblClinVar. | 1 | |
Natural variantiVAR_076688 | 1158 | L → P in FEPS3; slows deactivation; depolarizes resting membrane potential; enhances spontaneous firing; decreases rates of current decay; does not change fast-inactivation; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs141686175EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 11280 |
GeneReviewsi | SCN11A |
MalaCardsi | SCN11A |
MIMi | 615548, phenotype 615552, phenotype |
OpenTargetsi | ENSG00000168356 |
Orphaneti | 88642, Channelopathy-associated congenital insensitivity to pain 391392, Familial episodic pain syndrome with predominantly lower limb involvement 391397, Hereditary sensory and autonomic neuropathy type 7 46348, Paroxysmal extreme pain disorder 90026, Primary erythromelalgia 306577, Sodium channelopathy-related small fiber neuropathy |
PharmGKBi | PA35001 |
Miscellaneous databases
Pharosi | Q9UI33, Tclin |
Chemistry databases
ChEMBLi | CHEMBL5167 |
DrugBanki | DB09088, Amylocaine DB13746, Bioallethrin DB05541, Brivaracetam DB00564, Carbamazepine DB00907, Cocaine DB13269, Dichlorobenzyl alcohol DB13961, Fish oil DB00555, Lamotrigine DB00776, Oxcarbazepine DB11186, Pentoxyverine DB09345, Pramocaine DB01069, Promethazine DB09342, Propoxycaine DB00243, Ranolazine DB09085, Tetracaine DB00273, Topiramate DB00313, Valproic acid DB00909, Zonisamide |
DrugCentrali | Q9UI33 |
Genetic variation databases
BioMutai | SCN11A |
DMDMi | 124053649 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048510 | 1 – 1791 | Sodium channel protein type 11 subunit alphaAdd BLAST | 1791 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 283 ↔ 322 | By similarity | ||
Glycosylationi | 290 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 338 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 776 ↔ 787 | By similarity | ||
Glycosylationi | 781 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1209 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1216 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1222 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1230 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 1341 | Phosphoserine; by PKCBy similarity | 1 | |
Glycosylationi | 1568 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q9UI33 |
MassIVEi | Q9UI33 |
PaxDbi | Q9UI33 |
PeptideAtlasi | Q9UI33 |
PRIDEi | Q9UI33 |
ProteomicsDBi | 84461 [Q9UI33-1] 84462 [Q9UI33-2] 84463 [Q9UI33-3] |
PTM databases
GlyGeni | Q9UI33, 8 sites |
iPTMneti | Q9UI33 |
PhosphoSitePlusi | Q9UI33 |
Expressioni
Tissue specificityi
Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.2 Publications
Gene expression databases
Bgeei | ENSG00000168356, Expressed in dorsal root ganglion and 91 other tissues |
Genevisiblei | Q9UI33, HS |
Organism-specific databases
HPAi | ENSG00000168356, Tissue enhanced (lymphoid tissue, placenta) |
Interactioni
Subunit structurei
The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more auxiliary subunits SCN1B, SCN2B and SCN3B.
Protein-protein interaction databases
IntActi | Q9UI33, 2 interactors |
STRINGi | 9606.ENSP00000307599 |
Chemistry databases
BindingDBi | Q9UI33 |
Miscellaneous databases
RNActi | Q9UI33, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 115 – 408 | ICuratedAdd BLAST | 294 | |
Repeati | 559 – 833 | IICuratedAdd BLAST | 275 | |
Repeati | 1044 – 1339 | IIICuratedAdd BLAST | 296 | |
Repeati | 1348 – 1639 | IVCuratedAdd BLAST | 292 |
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.Curated
Sequence similaritiesi
Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily. [View classification]Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000161553 |
HOGENOMi | CLU_000540_5_0_1 |
InParanoidi | Q9UI33 |
OMAi | NVGMAYL |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q9UI33 |
TreeFami | TF323985 |
Family and domain databases
CDDi | cd13433, Na_channel_gate, 1 hit |
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR028821, Na_channel_a11su IPR001696, Na_channel_asu IPR044564, Na_chnl_inactivation_gate IPR010526, Na_trans_assoc IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit PTHR10037:SF210, PTHR10037:SF210, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits PF06512, Na_trans_assoc, 1 hit |
PRINTSi | PR00170, NACHANNEL |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UI33-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDDRCYPVIF PDERNFRPFT SDSLAAIEKR IAIQKEKKKS KDQTGEVPQP
60 70 80 90 100
RPQLDLKASR KLPKLYGDIP RELIGKPLED LDPFYRNHKT FMVLNRKRTI
110 120 130 140 150
YRFSAKHALF IFGPFNSIRS LAIRVSVHSL FSMFIIGTVI INCVFMATGP
160 170 180 190 200
AKNSNSNNTD IAECVFTGIY IFEALIKILA RGFILDEFSF LRDPWNWLDS
210 220 230 240 250
IVIGIAIVSY IPGITIKLLP LRTFRVFRAL KAISVVSRLK VIVGALLRSV
260 270 280 290 300
KKLVNVIILT FFCLSIFALV GQQLFMGSLN LKCISRDCKN ISNPEAYDHC
310 320 330 340 350
FEKKENSPEF KMCGIWMGNS ACSIQYECKH TKINPDYNYT NFDNFGWSFL
360 370 380 390 400
AMFRLMTQDS WEKLYQQTLR TTGLYSVFFF IVVIFLGSFY LINLTLAVVT
410 420 430 440 450
MAYEEQNKNV AAEIEAKEKM FQEAQQLLKE EKEALVAMGI DRSSLTSLET
460 470 480 490 500
SYFTPKKRKL FGNKKRKSFF LRESGKDQPP GSDSDEDCQK KPQLLEQTKR
510 520 530 540 550
LSQNLSLDHF DEHGDPLQRQ RALSAVSILT ITMKEQEKSQ EPCLPCGENL
560 570 580 590 600
ASKYLVWNCC PQWLCVKKVL RTVMTDPFTE LAITICIIIN TVFLAMEHHK
610 620 630 640 650
MEASFEKMLN IGNLVFTSIF IAEMCLKIIA LDPYHYFRRG WNIFDSIVAL
660 670 680 690 700
LSFADVMNCV LQKRSWPFLR SFRVLRVFKL AKSWPTLNTL IKIIGNSVGA
710 720 730 740 750
LGSLTVVLVI VIFIFSVVGM QLFGRSFNSQ KSPKLCNPTG PTVSCLRHWH
760 770 780 790 800
MGDFWHSFLV VFRILCGEWI ENMWECMQEA NASSSLCVIV FILITVIGKL
810 820 830 840 850
VVLNLFIALL LNSFSNEERN GNLEGEARKT KVQLALDRFR RAFCFVRHTL
860 870 880 890 900
EHFCHKWCRK QNLPQQKEVA GGCAAQSKDI IPLVMEMKRG SETQEELGIL
910 920 930 940 950
TSVPKTLGVR HDWTWLAPLA EEEDDVEFSG EDNAQRITQP EPEQQAYELH
960 970 980 990 1000
QENKKPTSQR VQSVEIDMFS EDEPHLTIQD PRKKSDVTSI LSECSTIDLQ
1010 1020 1030 1040 1050
DGFGWLPEMV PKKQPERCLP KGFGCCFPCC SVDKRKPPWV IWWNLRKTCY
1060 1070 1080 1090 1100
QIVKHSWFES FIIFVILLSS GALIFEDVHL ENQPKIQELL NCTDIIFTHI
1110 1120 1130 1140 1150
FILEMVLKWV AFGFGKYFTS AWCCLDFIIV IVSVTTLINL MELKSFRTLR
1160 1170 1180 1190 1200
ALRPLRALSQ FEGMKVVVNA LIGAIPAILN VLLVCLIFWL VFCILGVYFF
1210 1220 1230 1240 1250
SGKFGKCING TDSVINYTII TNKSQCESGN FSWINQKVNF DNVGNAYLAL
1260 1270 1280 1290 1300
LQVATFKGWM DIIYAAVDST EKEQQPEFES NSLGYIYFVV FIIFGSFFTL
1310 1320 1330 1340 1350
NLFIGVIIDN FNQQQKKLGG QDIFMTEEQK KYYNAMKKLG SKKPQKPIPR
1360 1370 1380 1390 1400
PLNKCQGLVF DIVTSQIFDI IIISLIILNM ISMMAESYNQ PKAMKSILDH
1410 1420 1430 1440 1450
LNWVFVVIFT LECLIKIFAL RQYYFTNGWN LFDCVVVLLS IVSTMISTLE
1460 1470 1480 1490 1500
NQEHIPFPPT LFRIVRLARI GRILRLVRAA RGIRTLLFAL MMSLPSLFNI
1510 1520 1530 1540 1550
GLLLFLIMFI YAILGMNWFS KVNPESGIDD IFNFKTFASS MLCLFQISTS
1560 1570 1580 1590 1600
AGWDSLLSPM LRSKESCNSS SENCHLPGIA TSYFVSYIII SFLIVVNMYI
1610 1620 1630 1640 1650
AVILENFNTA TEESEDPLGE DDFDIFYEVW EKFDPEATQF IKYSALSDFA
1660 1670 1680 1690 1700
DALPEPLRVA KPNKYQFLVM DLPMVSEDRL HCMDILFAFT ARVLGGSDGL
1710 1720 1730 1740 1750
DSMKAMMEEK FMEANPLKKL YEPIVTTTKR KEEERGAAII QKAFRKYMMK
1760 1770 1780 1790
VTKGDQGDQN DLENGPHSPL QTLCNGDLSS FGVAKGKVHC D
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PFM8 | A0A6Q8PFM8_HUMAN | Sodium channel protein | SCN11A | 1,664 | Annotation score: | ||
A0A6Q8PGN4 | A0A6Q8PGN4_HUMAN | Sodium channel protein | SCN11A | 1,731 | Annotation score: | ||
A0A6Q8PGY3 | A0A6Q8PGY3_HUMAN | Sodium channel protein type 11 subu... | SCN11A | 1,444 | Annotation score: | ||
A0A6Q8PGY6 | A0A6Q8PGY6_HUMAN | Sodium channel protein type 11 subu... | SCN11A | 960 | Annotation score: | ||
A0A6Q8PF78 | A0A6Q8PF78_HUMAN | Sodium channel protein type 11 subu... | SCN11A | 108 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 576 | D → G in CAD10507 (PubMed:12384689).Curated | 1 | |
Sequence conflicti | 703 | S → N in AAF24976 (PubMed:10623608).Curated | 1 | |
Sequence conflicti | 703 | S → N in AAF24980 (PubMed:10623608).Curated | 1 | |
Sequence conflicti | 847 | R → G in CAD10507 (PubMed:12384689).Curated | 1 | |
Sequence conflicti | 1086 | I → T in AAT95434 (PubMed:15302875).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076679 | 222 | R → H in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs1230622899Ensembl. | 1 | |
Natural variantiVAR_076680 | 222 | R → S in FEPS3. 1 Publication | 1 | |
Natural variantiVAR_070919 | 225 | R → C in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs138607170EnsemblClinVar. | 1 | |
Natural variantiVAR_076681 | 308 | P → L1 PublicationCorresponds to variant dbSNP:rs751477540Ensembl. | 1 | |
Natural variantiVAR_076682 | 381 | I → T in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; depolarizes resting membrane potential; enhances spontaneous firing; hyperpolarizes channel activation; slows deactivation; decreases rates of current decay; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs606231280EnsemblClinVar. | 1 | |
Natural variantiVAR_076683 | 419 | K → N1 PublicationCorresponds to variant dbSNP:rs150269814EnsemblClinVar. | 1 | |
Natural variantiVAR_030002 | 481 | G → E. Corresponds to variant dbSNP:rs13059805EnsemblClinVar. | 1 | |
Natural variantiVAR_076684 | 582 | A → T1 PublicationCorresponds to variant dbSNP:rs141228634EnsemblClinVar. | 1 | |
Natural variantiVAR_076685 | 681 | A → D1 Publication | 1 | |
Natural variantiVAR_076686 | 699 | G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant dbSNP:rs145734191EnsemblClinVar. | 1 | |
Natural variantiVAR_030003 | 777 | M → R. Corresponds to variant dbSNP:rs4302324Ensembl. | 1 | |
Natural variantiVAR_070920 | 808 | A → G in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs483352921EnsemblClinVar. | 1 | |
Natural variantiVAR_070921 | 811 | L → P in HSAN7; results in excessive channel activity at resting voltages; causes sustained depolarization of nociceptors and impaired generation of action potentials; causes aberrant synaptic transmission; causes transient hyperexcitability of dorsal root ganglion neurons. 2 PublicationsCorresponds to variant dbSNP:rs483352920EnsemblClinVar. | 1 | |
Natural variantiVAR_076687 | 842 | A → P1 PublicationCorresponds to variant dbSNP:rs1373209779EnsemblClinVar. | 1 | |
Natural variantiVAR_048697 | 909 | V → I1 PublicationCorresponds to variant dbSNP:rs33985936EnsemblClinVar. | 1 | |
Natural variantiVAR_076688 | 1158 | L → P in FEPS3; slows deactivation; depolarizes resting membrane potential; enhances spontaneous firing; decreases rates of current decay; does not change fast-inactivation; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs141686175EnsemblClinVar. | 1 | |
Natural variantiVAR_075250 | 1184 | V → A in HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons. 1 Publication | 1 | |
Natural variantiVAR_030004 | 1198 | Y → H. Corresponds to variant dbSNP:rs12638601Ensembl. | 1 | |
Natural variantiVAR_076689 | 1609 | T → I1 PublicationCorresponds to variant dbSNP:rs72869687EnsemblClinVar. | 1 | |
Natural variantiVAR_076690 | 1689 | F → L1 PublicationCorresponds to variant dbSNP:rs201107889EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012259 | 946 – 983 | Missing in isoform 3. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_012260 | 1444 | T → K in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_012261 | 1445 – 1791 | Missing in isoform 2. 1 PublicationAdd BLAST | 347 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF188679 mRNA Translation: AAF17480.1 AF109737 mRNA Translation: AAF24976.1 AF150882 mRNA Translation: AAF24980.1 AJ417790 mRNA Translation: CAD10507.1 AC116038 Genomic DNA No translation available. AY686224 mRNA Translation: AAT95434.1 |
CCDSi | CCDS33737.1 [Q9UI33-1] |
RefSeqi | NP_001274152.1, NM_001287223.1 NP_054858.2, NM_014139.2 [Q9UI33-1] XP_016861138.1, XM_017005649.1 XP_016861139.1, XM_017005650.1 [Q9UI33-1] |
Genome annotation databases
Ensembli | ENST00000302328; ENSP00000307599; ENSG00000168356 [Q9UI33-1] ENST00000444237; ENSP00000408028; ENSG00000168356 [Q9UI33-2] ENST00000456224; ENSP00000416757; ENSG00000168356 [Q9UI33-3] ENST00000668754; ENSP00000499569; ENSG00000168356 [Q9UI33-1] |
GeneIDi | 11280 |
KEGGi | hsa:11280 |
UCSCi | uc003cis.2, human [Q9UI33-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF188679 mRNA Translation: AAF17480.1 AF109737 mRNA Translation: AAF24976.1 AF150882 mRNA Translation: AAF24980.1 AJ417790 mRNA Translation: CAD10507.1 AC116038 Genomic DNA No translation available. AY686224 mRNA Translation: AAT95434.1 |
CCDSi | CCDS33737.1 [Q9UI33-1] |
RefSeqi | NP_001274152.1, NM_001287223.1 NP_054858.2, NM_014139.2 [Q9UI33-1] XP_016861138.1, XM_017005649.1 XP_016861139.1, XM_017005650.1 [Q9UI33-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
IntActi | Q9UI33, 2 interactors |
STRINGi | 9606.ENSP00000307599 |
Chemistry databases
BindingDBi | Q9UI33 |
ChEMBLi | CHEMBL5167 |
DrugBanki | DB09088, Amylocaine DB13746, Bioallethrin DB05541, Brivaracetam DB00564, Carbamazepine DB00907, Cocaine DB13269, Dichlorobenzyl alcohol DB13961, Fish oil DB00555, Lamotrigine DB00776, Oxcarbazepine DB11186, Pentoxyverine DB09345, Pramocaine DB01069, Promethazine DB09342, Propoxycaine DB00243, Ranolazine DB09085, Tetracaine DB00273, Topiramate DB00313, Valproic acid DB00909, Zonisamide |
DrugCentrali | Q9UI33 |
Protein family/group databases
TCDBi | 1.A.1.10.9, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | Q9UI33, 8 sites |
iPTMneti | Q9UI33 |
PhosphoSitePlusi | Q9UI33 |
Genetic variation databases
BioMutai | SCN11A |
DMDMi | 124053649 |
Proteomic databases
jPOSTi | Q9UI33 |
MassIVEi | Q9UI33 |
PaxDbi | Q9UI33 |
PeptideAtlasi | Q9UI33 |
PRIDEi | Q9UI33 |
ProteomicsDBi | 84461 [Q9UI33-1] 84462 [Q9UI33-2] 84463 [Q9UI33-3] |
Protocols and materials databases
Antibodypediai | 28814, 113 antibodies |
Genome annotation databases
Ensembli | ENST00000302328; ENSP00000307599; ENSG00000168356 [Q9UI33-1] ENST00000444237; ENSP00000408028; ENSG00000168356 [Q9UI33-2] ENST00000456224; ENSP00000416757; ENSG00000168356 [Q9UI33-3] ENST00000668754; ENSP00000499569; ENSG00000168356 [Q9UI33-1] |
GeneIDi | 11280 |
KEGGi | hsa:11280 |
UCSCi | uc003cis.2, human [Q9UI33-1] |
Organism-specific databases
CTDi | 11280 |
DisGeNETi | 11280 |
GeneCardsi | SCN11A |
GeneReviewsi | SCN11A |
HGNCi | HGNC:10583, SCN11A |
HPAi | ENSG00000168356, Tissue enhanced (lymphoid tissue, placenta) |
MalaCardsi | SCN11A |
MIMi | 604385, gene 615548, phenotype 615552, phenotype |
neXtProti | NX_Q9UI33 |
OpenTargetsi | ENSG00000168356 |
Orphaneti | 88642, Channelopathy-associated congenital insensitivity to pain 391392, Familial episodic pain syndrome with predominantly lower limb involvement 391397, Hereditary sensory and autonomic neuropathy type 7 46348, Paroxysmal extreme pain disorder 90026, Primary erythromelalgia 306577, Sodium channelopathy-related small fiber neuropathy |
PharmGKBi | PA35001 |
VEuPathDBi | HostDB:ENSG00000168356.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000161553 |
HOGENOMi | CLU_000540_5_0_1 |
InParanoidi | Q9UI33 |
OMAi | NVGMAYL |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q9UI33 |
TreeFami | TF323985 |
Enzyme and pathway databases
PathwayCommonsi | Q9UI33 |
Reactomei | R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-5576892, Phase 0 - rapid depolarisation |
SIGNORi | Q9UI33 |
Miscellaneous databases
BioGRID-ORCSi | 11280, 3 hits in 985 CRISPR screens |
ChiTaRSi | SCN11A, human |
GeneWikii | Nav1.9 |
GenomeRNAii | 11280 |
Pharosi | Q9UI33, Tclin |
PROi | PR:Q9UI33 |
RNActi | Q9UI33, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168356, Expressed in dorsal root ganglion and 91 other tissues |
Genevisiblei | Q9UI33, HS |
Family and domain databases
CDDi | cd13433, Na_channel_gate, 1 hit |
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR028821, Na_channel_a11su IPR001696, Na_channel_asu IPR044564, Na_chnl_inactivation_gate IPR010526, Na_trans_assoc IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit PTHR10037:SF210, PTHR10037:SF210, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits PF06512, Na_trans_assoc, 1 hit |
PRINTSi | PR00170, NACHANNEL |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SCNBA_HUMAN | |
Accessioni | Q9UI33Primary (citable) accession number: Q9UI33 Secondary accession number(s): A6NN05 Q9UHM0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 21, 2004 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families