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Protein

Sodium channel protein type 11 subunit alpha

Gene

SCN11A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 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 sodium channel activity Source: ProtInc

GO - Biological processi

  • membrane depolarization during action potential Source: GO_Central
  • neuronal action potential Source: GO_Central
  • regulation of sensory perception of pain Source: UniProtKB
  • response to drug Source: ProtInc
  • 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

ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Protein family/group databases

TCDBi1.A.1.10.9. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 11 subunit alpha
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:10583. SCN11A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 126CytoplasmicSequence analysisAdd BLAST126
Transmembranei127 – 148Helical; Name=S1 of repeat IBy similarityAdd BLAST22
Topological domaini149 – 156ExtracellularSequence analysis8
Transmembranei157 – 180Helical; Name=S2 of repeat IBy similarityAdd BLAST24
Topological domaini181 – 192CytoplasmicSequence analysisAdd BLAST12
Transmembranei193 – 212Helical; Name=S3 of repeat IBy similarityAdd BLAST20
Topological domaini213 – 219ExtracellularSequence analysis7
Transmembranei220 – 239Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd BLAST20
Topological domaini240 – 255CytoplasmicSequence analysisAdd BLAST16
Transmembranei256 – 269Helical; Name=S5 of repeat IBy similarityAdd BLAST14
Topological domaini270 – 376ExtracellularSequence analysisAdd BLAST107
Transmembranei377 – 402Helical; Name=S6 of repeat IBy similarityAdd BLAST26
Topological domaini403 – 572CytoplasmicSequence analysisAdd BLAST170
Transmembranei573 – 596Helical; Name=S1 of repeat IIBy similarityAdd BLAST24
Topological domaini597 – 607ExtracellularSequence analysisAdd BLAST11
Transmembranei608 – 631Helical; Name=S2 of repeat IIBy similarityAdd BLAST24
Topological domaini632 – 639CytoplasmicSequence analysis8
Transmembranei640 – 659Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini660 – 667ExtracellularSequence analysis8
Transmembranei668 – 687Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd BLAST20
Topological domaini688 – 702CytoplasmicSequence analysisAdd BLAST15
Transmembranei703 – 725Helical; Name=S5 of repeat IIBy similarityAdd BLAST23
Topological domaini726 – 785ExtracellularSequence analysisAdd BLAST60
Transmembranei786 – 811Helical; Name=S6 of repeat IIBy similarityAdd BLAST26
Topological domaini812 – 1051CytoplasmicSequence analysisAdd BLAST240
Transmembranei1052 – 1074Helical; Name=S1 of repeat IIIBy similarityAdd BLAST23
Topological domaini1075 – 1088ExtracellularSequence analysisAdd BLAST14
Transmembranei1089 – 1114Helical; Name=S2 of repeat IIIBy similarityAdd BLAST26
Topological domaini1115 – 1120CytoplasmicSequence analysis6
Transmembranei1121 – 1138Helical; Name=S3 of repeat IIIBy similarityAdd BLAST18
Topological domaini1139ExtracellularSequence analysis1
Transmembranei1140 – 1161Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd BLAST22
Topological domaini1162 – 1180CytoplasmicSequence analysisAdd BLAST19
Transmembranei1181 – 1202Helical; Name=S5 of repeat IIIBy similarityAdd BLAST22
Topological domaini1203 – 1281ExtracellularSequence analysisAdd BLAST79
Transmembranei1282 – 1308Helical; Name=S6 of repeat IIIBy similarityAdd BLAST27
Topological domaini1309 – 1361CytoplasmicSequence analysisAdd BLAST53
Transmembranei1362 – 1385Helical; Name=S1 of repeat IVBy similarityAdd BLAST24
Topological domaini1386 – 1396ExtracellularSequence analysisAdd BLAST11
Transmembranei1397 – 1420Helical; Name=S2 of repeat IVBy similarityAdd BLAST24
Topological domaini1421 – 1426CytoplasmicSequence analysis6
Transmembranei1427 – 1450Helical; Name=S3 of repeat IVBy similarityAdd BLAST24
Topological domaini1451 – 1461ExtracellularSequence analysisAdd BLAST11
Transmembranei1462 – 1484Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd BLAST23
Topological domaini1485 – 1499CytoplasmicSequence analysisAdd BLAST15
Transmembranei1500 – 1522Helical; Name=S5 of repeat IVBy similarityAdd BLAST23
Topological domaini1523 – 1579ExtracellularSequence analysisAdd BLAST57
Transmembranei1580 – 1604Helical; Name=S6 of repeat IVBy similarityAdd BLAST25
Topological domaini1605 – 1791CytoplasmicSequence analysisAdd BLAST187

GO - Cellular componenti

  • C-fiber Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • plasma membrane Source: GO_Central
  • voltage-gated sodium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 7 (HSAN7)2 Publications
The disease is caused by mutations 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.
See also OMIM:615548
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070921811L → 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 rs483352920dbSNPEnsembl.1
Natural variantiVAR_0752501184V → 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 Publication1
Episodic pain syndrome, familial, 3 (FEPS3)4 Publications
The disease is caused by mutations 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.
See also OMIM:615552
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076679222R → H in FEPS3. 1 Publication1
Natural variantiVAR_076680222R → S in FEPS3. 1 Publication1
Natural variantiVAR_070919225R → C in FEPS3. 1 PublicationCorresponds to variant rs138607170dbSNPEnsembl.1
Natural variantiVAR_076682381I → 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 rs606231280dbSNPEnsembl.1
Natural variantiVAR_076686699G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant rs145734191dbSNPEnsembl.1
Natural variantiVAR_070920808A → G in FEPS3. 1 PublicationCorresponds to variant rs483352921dbSNPEnsembl.1
Natural variantiVAR_0766881158L → 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 rs141686175dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi11280.
MalaCardsiSCN11A.
MIMi615548. phenotype.
615552. phenotype.
OpenTargetsiENSG00000168356.
Orphaneti88642. 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 erythermalgia.
306577. Sodium channelopathy-related small fiber neuropathy.
PharmGKBiPA35001.

Chemistry databases

ChEMBLiCHEMBL5167.
DrugBankiDB00907. Cocaine.
DB00313. Valproic Acid.
DB00909. Zonisamide.

Polymorphism and mutation databases

BioMutaiSCN11A.
DMDMi124053649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000485101 – 1791Sodium channel protein type 11 subunit alphaAdd BLAST1791

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi290N-linked (GlcNAc...)Sequence analysis1
Glycosylationi338N-linked (GlcNAc...)Sequence analysis1
Glycosylationi781N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1209N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1216N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1222N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1230N-linked (GlcNAc...)Sequence analysis1
Modified residuei1341Phosphoserine; by PKCBy similarity1
Glycosylationi1568N-linked (GlcNAc...)Sequence analysis1

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

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9UI33.
PeptideAtlasiQ9UI33.
PRIDEiQ9UI33.

PTM databases

iPTMnetiQ9UI33.
PhosphoSitePlusiQ9UI33.

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

BgeeiENSG00000168356.
CleanExiHS_SCN11A.
GenevisibleiQ9UI33. HS.

Organism-specific databases

HPAiHPA036746.
HPA036747.

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

IntActiQ9UI33. 1 interactor.
STRINGi9606.ENSP00000307599.

Chemistry databases

BindingDBiQ9UI33.

Structurei

3D structure databases

ProteinModelPortaliQ9UI33.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati115 – 408ICuratedAdd BLAST294
Repeati559 – 833IICuratedAdd BLAST275
Repeati1044 – 1339IIICuratedAdd BLAST296
Repeati1348 – 1639IVCuratedAdd BLAST292

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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9UI33.
KOiK04843.
OMAiLENFNTA.
OrthoDBiEOG091G00FK.
PhylomeDBiQ9UI33.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028821. Na_channel_a11su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF210. PTHR10037:SF210. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UI33-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,791
Mass (Da):204,922
Last modified:January 23, 2007 - v2
Checksum:iDE38680BFB639ED1
GO
Isoform 2 (identifier: Q9UI33-2) [UniParc]FASTAAdd to basket
Also known as: Scn12a-s

The sequence of this isoform differs from the canonical sequence as follows:
     1444-1444: T → K
     1445-1791: Missing.

Show »
Length:1,444
Mass (Da):165,712
Checksum:iAF30D44FC4116459
GO
Isoform 3 (identifier: Q9UI33-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     946-983: Missing.

Note: No experimental confirmation available.
Show »
Length:1,753
Mass (Da):200,415
Checksum:i72559E3CD95192B0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti576D → G in CAD10507 (PubMed:12384689).Curated1
Sequence conflicti703S → N in AAF24976 (PubMed:10623608).Curated1
Sequence conflicti703S → N in AAF24980 (PubMed:10623608).Curated1
Sequence conflicti847R → G in CAD10507 (PubMed:12384689).Curated1
Sequence conflicti1086I → T in AAT95434 (PubMed:15302875).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076679222R → H in FEPS3. 1 Publication1
Natural variantiVAR_076680222R → S in FEPS3. 1 Publication1
Natural variantiVAR_070919225R → C in FEPS3. 1 PublicationCorresponds to variant rs138607170dbSNPEnsembl.1
Natural variantiVAR_076681308P → L.1 PublicationCorresponds to variant rs751477540dbSNPEnsembl.1
Natural variantiVAR_076682381I → 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 rs606231280dbSNPEnsembl.1
Natural variantiVAR_076683419K → N.1 PublicationCorresponds to variant rs150269814dbSNPEnsembl.1
Natural variantiVAR_030002481G → E.Corresponds to variant rs13059805dbSNPEnsembl.1
Natural variantiVAR_076684582A → T.1 PublicationCorresponds to variant rs141228634dbSNPEnsembl.1
Natural variantiVAR_076685681A → D.1 Publication1
Natural variantiVAR_076686699G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant rs145734191dbSNPEnsembl.1
Natural variantiVAR_030003777M → R.Corresponds to variant rs4302324dbSNPEnsembl.1
Natural variantiVAR_070920808A → G in FEPS3. 1 PublicationCorresponds to variant rs483352921dbSNPEnsembl.1
Natural variantiVAR_070921811L → 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 rs483352920dbSNPEnsembl.1
Natural variantiVAR_076687842A → P.1 Publication1
Natural variantiVAR_048697909V → I.1 PublicationCorresponds to variant rs33985936dbSNPEnsembl.1
Natural variantiVAR_0766881158L → 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 rs141686175dbSNPEnsembl.1
Natural variantiVAR_0752501184V → 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 Publication1
Natural variantiVAR_0300041198Y → H.Corresponds to variant rs12638601dbSNPEnsembl.1
Natural variantiVAR_0766891609T → I.1 PublicationCorresponds to variant rs72869687dbSNPEnsembl.1
Natural variantiVAR_0766901689F → L.1 PublicationCorresponds to variant rs201107889dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012259946 – 983Missing in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0122601444T → K in isoform 2. 1 Publication1
Alternative sequenceiVSP_0122611445 – 1791Missing in isoform 2. 1 PublicationAdd BLAST347

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.
CCDSiCCDS33737.1. [Q9UI33-1]
RefSeqiNP_001274152.1. NM_001287223.1. [Q9UI33-1]
NP_054858.2. NM_014139.2. [Q9UI33-1]
XP_016861138.1. XM_017005649.1. [Q9UI33-1]
XP_016861139.1. XM_017005650.1. [Q9UI33-1]
UniGeneiHs.591657.

Genome annotation databases

EnsembliENST00000302328; ENSP00000307599; ENSG00000168356. [Q9UI33-1]
ENST00000444237; ENSP00000408028; ENSG00000168356. [Q9UI33-2]
ENST00000456224; ENSP00000416757; ENSG00000168356. [Q9UI33-3]
GeneIDi11280.
KEGGihsa:11280.
UCSCiuc003cis.2. human. [Q9UI33-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS33737.1. [Q9UI33-1]
RefSeqiNP_001274152.1. NM_001287223.1. [Q9UI33-1]
NP_054858.2. NM_014139.2. [Q9UI33-1]
XP_016861138.1. XM_017005649.1. [Q9UI33-1]
XP_016861139.1. XM_017005650.1. [Q9UI33-1]
UniGeneiHs.591657.

3D structure databases

ProteinModelPortaliQ9UI33.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9UI33. 1 interactor.
STRINGi9606.ENSP00000307599.

Chemistry databases

BindingDBiQ9UI33.
ChEMBLiCHEMBL5167.
DrugBankiDB00907. Cocaine.
DB00313. Valproic Acid.
DB00909. Zonisamide.

Protein family/group databases

TCDBi1.A.1.10.9. the voltage-gated ion channel (vic) superfamily.

PTM databases

iPTMnetiQ9UI33.
PhosphoSitePlusiQ9UI33.

Polymorphism and mutation databases

BioMutaiSCN11A.
DMDMi124053649.

Proteomic databases

PaxDbiQ9UI33.
PeptideAtlasiQ9UI33.
PRIDEiQ9UI33.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302328; ENSP00000307599; ENSG00000168356. [Q9UI33-1]
ENST00000444237; ENSP00000408028; ENSG00000168356. [Q9UI33-2]
ENST00000456224; ENSP00000416757; ENSG00000168356. [Q9UI33-3]
GeneIDi11280.
KEGGihsa:11280.
UCSCiuc003cis.2. human. [Q9UI33-1]

Organism-specific databases

CTDi11280.
DisGeNETi11280.
GeneCardsiSCN11A.
HGNCiHGNC:10583. SCN11A.
HPAiHPA036746.
HPA036747.
MalaCardsiSCN11A.
MIMi604385. gene.
615548. phenotype.
615552. phenotype.
neXtProtiNX_Q9UI33.
OpenTargetsiENSG00000168356.
Orphaneti88642. 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 erythermalgia.
306577. Sodium channelopathy-related small fiber neuropathy.
PharmGKBiPA35001.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9UI33.
KOiK04843.
OMAiLENFNTA.
OrthoDBiEOG091G00FK.
PhylomeDBiQ9UI33.
TreeFamiTF323985.

Enzyme and pathway databases

ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Miscellaneous databases

ChiTaRSiSCN11A. human.
GeneWikiiNav1.9.
GenomeRNAii11280.
PROiQ9UI33.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168356.
CleanExiHS_SCN11A.
GenevisibleiQ9UI33. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028821. Na_channel_a11su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF210. PTHR10037:SF210. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
ProtoNetiSearch...

Entry informationi

Entry nameiSCNBA_HUMAN
AccessioniPrimary (citable) accession number: Q9UI33
Secondary accession number(s): A6NN05
, C9JD48, C9JR31, Q68K15, Q8NDX3, Q9UHE0, Q9UHM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 131 of the entry and version 2 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 3
    Human chromosome 3: 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

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.