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1.A.1.10.9
The voltage-gated Na+ channel α-subunit, Nav1.9. Present in excitable membranes. Resistant to tetrodotoxin and saxitoxin (Bosmans et al., 2011).  The mutation, S360Y, makes NaV1.9 channels sensitive to tetrodotoxin and saxitoxin, and the unusual slow open-state inactivation of NaV1.9 is mediated by the isoleucine-phenylalanine-methionine inactivation motif located in the linker connecting domains III and IV (Goral et al. 2015).  Gain-of function mutations can lead to heritable pain disorders, and painful small-fibre neuropathy (Han et al. 2016).  

Accession Number:Q9UI33
Protein Name:Sodium channel protein type 11 subunit alpha
Length:1791
Molecular Weight:204922.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:23
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Na+

Cross database links:

Genevestigator: Q9UI33
eggNOG: prNOG12028
HEGENOM: HBG358468
Entrez Gene ID: 11280   
Pfam: PF00520    PF06512   
KEGG: hsa:11280   

Gene Ontology

GO:0001518 C:voltage-gated sodium channel complex
GO:0005248 F:voltage-gated sodium channel activity
GO:0042493 P:response to drug

References (6)

[1] “Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons.”  Dib-Hajj S.D.et.al.   10580103
[2] “Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A.”  Jeong S.-Y.et.al.   10623608
[3] “Neurotrophin-evoked depolarization requires the sodium channel Nav1.9.”  Blum R.et.al.   12384689
[4] “The DNA sequence, annotation and analysis of human chromosome 3.”  Muzny D.M.et.al.   16641997
[5] “Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.”  Raymond C.K.et.al.   15302875
[6] “Na+ channel Nav1.9: in search of a gating mechanism.”  Delmas P.et.al.   12536125

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MDDRCYPVIF PDERNFRPFT SDSLAAIEKR IAIQKEKKKS KDQTGEVPQP RPQLDLKASR 
61:	KLPKLYGDIP RELIGKPLED LDPFYRNHKT FMVLNRKRTI YRFSAKHALF IFGPFNSIRS 
121:	LAIRVSVHSL FSMFIIGTVI INCVFMATGP AKNSNSNNTD IAECVFTGIY IFEALIKILA 
181:	RGFILDEFSF LRDPWNWLDS IVIGIAIVSY IPGITIKLLP LRTFRVFRAL KAISVVSRLK 
241:	VIVGALLRSV KKLVNVIILT FFCLSIFALV GQQLFMGSLN LKCISRDCKN ISNPEAYDHC 
301:	FEKKENSPEF KMCGIWMGNS ACSIQYECKH TKINPDYNYT NFDNFGWSFL AMFRLMTQDS 
361:	WEKLYQQTLR TTGLYSVFFF IVVIFLGSFY LINLTLAVVT MAYEEQNKNV AAEIEAKEKM 
421:	FQEAQQLLKE EKEALVAMGI DRSSLTSLET SYFTPKKRKL FGNKKRKSFF LRESGKDQPP 
481:	GSDSDEDCQK KPQLLEQTKR LSQNLSLDHF DEHGDPLQRQ RALSAVSILT ITMKEQEKSQ 
541:	EPCLPCGENL ASKYLVWNCC PQWLCVKKVL RTVMTDPFTE LAITICIIIN TVFLAMEHHK 
601:	MEASFEKMLN IGNLVFTSIF IAEMCLKIIA LDPYHYFRRG WNIFDSIVAL LSFADVMNCV 
661:	LQKRSWPFLR SFRVLRVFKL AKSWPTLNTL IKIIGNSVGA LGSLTVVLVI VIFIFSVVGM 
721:	QLFGRSFNSQ KSPKLCNPTG PTVSCLRHWH MGDFWHSFLV VFRILCGEWI ENMWECMQEA 
781:	NASSSLCVIV FILITVIGKL VVLNLFIALL LNSFSNEERN GNLEGEARKT KVQLALDRFR 
841:	RAFCFVRHTL EHFCHKWCRK QNLPQQKEVA GGCAAQSKDI IPLVMEMKRG SETQEELGIL 
901:	TSVPKTLGVR HDWTWLAPLA EEEDDVEFSG EDNAQRITQP EPEQQAYELH QENKKPTSQR 
961:	VQSVEIDMFS EDEPHLTIQD PRKKSDVTSI LSECSTIDLQ DGFGWLPEMV PKKQPERCLP 
1021:	KGFGCCFPCC SVDKRKPPWV IWWNLRKTCY QIVKHSWFES FIIFVILLSS GALIFEDVHL 
1081:	ENQPKIQELL NCTDIIFTHI FILEMVLKWV AFGFGKYFTS AWCCLDFIIV IVSVTTLINL 
1141:	MELKSFRTLR ALRPLRALSQ FEGMKVVVNA LIGAIPAILN VLLVCLIFWL VFCILGVYFF 
1201:	SGKFGKCING TDSVINYTII TNKSQCESGN FSWINQKVNF DNVGNAYLAL LQVATFKGWM 
1261:	DIIYAAVDST EKEQQPEFES NSLGYIYFVV FIIFGSFFTL NLFIGVIIDN FNQQQKKLGG 
1321:	QDIFMTEEQK KYYNAMKKLG SKKPQKPIPR PLNKCQGLVF DIVTSQIFDI IIISLIILNM 
1381:	ISMMAESYNQ PKAMKSILDH LNWVFVVIFT LECLIKIFAL RQYYFTNGWN LFDCVVVLLS 
1441:	IVSTMISTLE NQEHIPFPPT LFRIVRLARI GRILRLVRAA RGIRTLLFAL MMSLPSLFNI 
1501:	GLLLFLIMFI YAILGMNWFS KVNPESGIDD IFNFKTFASS MLCLFQISTS AGWDSLLSPM 
1561:	LRSKESCNSS SENCHLPGIA TSYFVSYIII SFLIVVNMYI AVILENFNTA TEESEDPLGE 
1621:	DDFDIFYEVW EKFDPEATQF IKYSALSDFA DALPEPLRVA KPNKYQFLVM DLPMVSEDRL 
1681:	HCMDILFAFT ARVLGGSDGL DSMKAMMEEK FMEANPLKKL YEPIVTTTKR KEEERGAAII 
1741:	QKAFRKYMMK VTKGDQGDQN DLENGPHSPL QTLCNGDLSS FGVAKGKVHC D