ID Q6B4S4_HUMAN Unreviewed; 531 AA. AC Q6B4S4; DT 13-SEP-2004, integrated into UniProtKB/TrEMBL. DT 13-SEP-2004, sequence version 1. DT 24-JAN-2024, entry version 103. DE SubName: Full=Voltage-gated sodium channel Nav1.6 {ECO:0000313|EMBL:AAT85830.1}; DE Flags: Fragment; GN Name=SCN8A {ECO:0000313|EMBL:AAT85830.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:AAT85830.1}; RN [1] {ECO:0000313|EMBL:AAT85830.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Dorsal root ganglia {ECO:0000313|EMBL:AAT85830.1}; RX PubMed=15302875; DOI=10.1074/jbc.M406387200; RA Raymond C.K., Castle J., Garrett-Engele P., Armour C.D., Kan Z., RA Tsinoremas N., Johnson J.M.; RT "Expression of alternatively spliced sodium channel alpha-subunit genes: RT unique splicing patterns are observed in dorsal root ganglia."; RL J. Biol. Chem. 279:46234-46241(2004). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY682081; AAT85830.1; -; mRNA. DR RefSeq; NP_001317189.1; NM_001330260.1. DR AlphaFoldDB; Q6B4S4; -. DR SMR; Q6B4S4; -. DR PeptideAtlas; Q6B4S4; -. DR DNASU; 6334; -. DR GeneID; 6334; -. DR KEGG; hsa:6334; -. DR CTD; 6334; -. DR OrthoDB; 1110761at2759; -. DR BioGRID-ORCS; 6334; 13 hits in 1149 CRISPR screens. DR ChiTaRS; SCN8A; human. DR GenomeRNAi; 6334; -. DR GO; GO:0001518; C:voltage-gated sodium channel complex; IEA:InterPro. DR GO; GO:0005248; F:voltage-gated sodium channel activity; IEA:InterPro. DR Gene3D; 1.10.287.70; -; 1. DR Gene3D; 1.20.120.350; Voltage-gated potassium channels. Chain C; 1. DR InterPro; IPR005821; Ion_trans_dom. DR InterPro; IPR008054; Na_channel_a8su. DR InterPro; IPR024583; Na_trans_cytopl. DR InterPro; IPR043203; VGCC_Ca_Na. DR InterPro; IPR027359; Volt_channel_dom_sf. DR PANTHER; PTHR10037:SF23; SODIUM CHANNEL PROTEIN TYPE 8 SUBUNIT ALPHA; 1. DR PANTHER; PTHR10037; VOLTAGE-GATED CATION CHANNEL CALCIUM AND SODIUM; 1. DR Pfam; PF00520; Ion_trans; 1. DR Pfam; PF11933; Na_trans_cytopl; 1. DR PRINTS; PR01667; NACHANNEL8. DR SUPFAM; SSF81324; Voltage-gated potassium channels; 1. PE 2: Evidence at transcript level; KW Ion channel {ECO:0000313|EMBL:AAT85830.1}; KW Ion transport {ECO:0000313|EMBL:AAT85830.1}; KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius}; KW Repeat {ECO:0000256|ARBA:ARBA00022737}; KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989, KW ECO:0000256|SAM:Phobius}; Transport {ECO:0000313|EMBL:AAT85830.1}. FT TRANSMEM 49..69 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT TRANSMEM 81..98 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT TRANSMEM 104..124 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT TRANSMEM 237..264 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT DOMAIN 6..270 FT /note="Ion transport" FT /evidence="ECO:0000259|Pfam:PF00520" FT DOMAIN 396..520 FT /note="Voltage-gated Na+ ion channel cytoplasmic" FT /evidence="ECO:0000259|Pfam:PF11933" FT REGION 296..380 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 418..453 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 350..380 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 425..453 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT NON_TER 1 FT /evidence="ECO:0000313|EMBL:AAT85830.1" FT NON_TER 531 FT /evidence="ECO:0000313|EMBL:AAT85830.1" SQ SEQUENCE 531 AA; 59709 MW; 44A31C1D45D18FD5 CRC64; FSNPPDWSKN VEYTFTGIYT FESLVKIIAR GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTKGF DWEEYINNKT NFYTVPGMLE PLLCGNSSDA GQCPEGYQCM KAGRNPNYGY TSFDTFSWAF LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEEG GGSPRSSSEI SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS LFIPIRARER RSSYSGYSGY SQGSRSSRIF PSLRRSVKRN STVDCNGVVS LIGGPGSHIG GRLLPEATTE VEIKKKGPGS L //