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0SCN5A_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameSCN5A
DescriptionSodium channel protein type v alpha subunit (voltage-gated sodium channel alpha subunit nav1.5) (sodium channel protein, cardiac muscle alpha-subunit) (hh1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005248 voltage-gated sodium channel activity (TAS)
0006936 muscle contraction (TAS)
0008016 regulation of heart contraction rate (TAS)
0006814 sodium ion transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Members of this entry contain a region found exclusively in eukaryotic sodium channels or their subunits.any of which are voltage-gated. Members very often also contain between one and four copies of and.ess often.ne copy of .
  IPR010526:Sodium ion transport-associated
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
Calmodulin (CaM) is recognized as a major calcium sensor and orchestrator of regulatory events through its interaction with a diverse group of cellular proteins. Three classes of recognition motifs exist for many of the known CaM binding proteins; the IQ motif as a consensus for Ca2+-independent binding and two related motifs for Ca2+-dependent binding.ermed18-14 and 1-5-10 based on the position of conserved hydrophobic residues .The regulatory domain of scallop myosin is a three-chain protein complex that switches on this motor in response to Ca2+ binding. Side-chain interactions link the two light chains in tandem to adjacent segments of the heavy chain bearing the IQ-sequence motif. The Ca2+-binding site is a novel EF-hand motif on the essential light chain and is stabilized by linkages involving the heavy chain and both light chains.ccounting for the requirement of all three chains for Ca2+ binding and regulation in the intact myosin molecule .
  IPR000048:IQ calmodulin-binding region
Voltage-dependent sodium channels are transmembrane (TM) proteinsresponsible for the depolarising phase of the action potential in mostelectrically excitable cells . They may exist in 3 states : theresting state.here the channel is closed; the activated state.here thechannel is open; and the inactivated state.here the channel is closedand refractory to opening. Several different structurally and functionallydistinct isoforms are found in mammals.oded for by a multigene family.hese being responsible for the different types of sodium ion currentsfound in excitable tissues.The structure of sodium channels is based on 4 internal repeats of a 6-helixbundle (in which 5 of the membrane-spanning segments are hydrophobic andthe other is positively charged).orming a 24-helical bundle. The chargedsegments are believed to be localised within clusters formed by their 5 hydrophobic neighbours: it is postulated that the charged domain may be thevoltage sensor region.ossibly moving outward on depolarisation.ausing aconformational change. This model.roposed by Noda et al. .ontrastswith that of Sato and Matsumoto .n which the TM segments are juxtaposedoctagonally. The basic structural motif (the 6-helix bundle) is also found in potassium and calcium channel alpha subunits.Cation channels are transport proteins responsible for the movement of cations through the membrane. These proteins contain 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some sub-families (e.g. Na channels) the domain is repeated four times.hereas in others (e.g. K channels) the protein forms as a tetramer in the membrane.
  IPR001696:Na+ channel
Voltage-dependent sodium channels are transmembrane (TM) proteinsresponsible for the depolarising phase of the action potential in mostelectrically excitable cells . They may exist in 3 states : theresting state.here the channel is closed; the activated state.here thechannel is open; and the inactivated state.here the channel is closedand refractory to opening. Several different structurally and functionallydistinct isoforms are found in mammals.oded for by a multigene family.hese being responsible for the different types of sodium ion currentsfound in excitable tissues.The structure of sodium channels is based on 4 internal repeats of a 6-helixbundle (in which 5 of the membrane-spanning segments are hydrophobic andthe other is positively charged).orming a 24-helical bundle. The chargedsegments are believed to be localised within clusters formed by their 5 hydrophobic neighbours: it is postulated that the charged domain may be thevoltage sensor region.ossibly moving outward on depolarisation.ausing aconformational change. This model.roposed by Noda et al. .ontrastswith that of Sato and Matsumoto .n which the TM segments are juxtaposedoctagonally. The basic structural motif (the 6-helix bundle) is also found in potassium and calcium channel alpha subunits.The SCN5A gene encodes the NaH1 channel and is expressed in cardiac muscle.oetal skeletal muscle and denervated adult skeletal muscle. Mutationsin the SCN5A gene affect the function of NaH1 channels in the heart and areone of the three causes of Long QT syndrome.n inherited cardiac arrhythmiathat can cause abrupt loss of consciousness.eizures and sudden death ; it is also associated with Brugada syndrome and conduction systemdisease .
  IPR008053:Na+ channel 5
IPR010526:Na_trans_assoc 
Evalue:-192.161148071289 
Location:951-1215IPR005821:Ion_trans 
Evalue:-71.958610534668 
Location:159-412IPR005821:Ion_trans 
Evalue:-70.0757217407227 
Location:1241-1469IPR005821:Ion_trans 
Evalue:-59.0604820251465 
Location:1562-1771IPR005821:Ion_trans 
Evalue:-57.6989707946777 
Location:751-938IPR000048:IQ 
Evalue:-2.13076829910278 
Location:1902-1922IPR008053:NACHANNEL5 
Evalue:0 
Location:505-525IPR008053:NACHANNEL5 
Evalue:0 
Location:627-644IPR008053:NACHANNEL5 
Evalue:0 
Location:444-458IPR001696:NACHANNEL 
Evalue:0 
Location:1789-1802IPR000048:IQ 
Evalue:0 
Location:0-0
SequencesProtein: SCN5A_HUMAN (2016 aa)
mRNA: NM_000335 NM_198056
Local Annotation
Synapse Ontology
endocytosis may be initiated or blocked by all kinds of signal.
sdb:0257 regulation of endocytosis  (Evidence:keywords)
Na channel plays an important role in the course of action potential.
sdb:0287 Na channel  (Evidence:keywords)
KO assignmentK04838
  Level 3 annotation:
    sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
  Level 2 annotation:
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 1166 residues, 38564557-38568053Exon2: 92 residues, 38570773-38571044Exon3: 37 residues, 38572150-38572255Exon4: 48 residues, 38572935-38573073Exon5: 20 residues, 38573725-38573779Exon6: 96 residues, 38576641-38576923Exon7: 43 residues, 38578909-38579032Exon8: 60 residues, 38582903-38583077Exon9: 53 residues, 38591791-38591946Exon10: 42 residues, 38593155-38593276Exon11: 55 residues, 38595828-38595987Exon12: 149 residues, 38597425-38597866Exon13: 119 residues, 38602185-38602536Exon14: 60 residues, 38603894-38604068Exon15: 81 residues, 38614223-38614462Exon16: 46 residues, 38615412-38615545Exon17: 126 residues, 38620206-38620578Exon18: 62 residues, 38621223-38621403Exon19: 68 residues, 38622445-38622643Exon20: 49 residues, 38623163-38623305Exon21: 23 residues, 38624645-38624709Exon22: 79 residues, 38626228-38626459Exon23: 32 residues, 38630237-38630329Exon24: 45 residues, 38637337-38637466Exon25: 32 residues, 38638894-38638984Exon26: 41 residues, 38646805-38646924Exon27: 110 residues, 38649529-38649854Exon28: 49 residues, 38666025-38666167Exon29: 2 residues, -Jump to SCN5A_HUMANExon1: 1166 residues, 38564557-38568053Exon2: 92 residues, 38570773-38571044Exon3: 37 residues, 38572150-38572255Exon4: 48 residues, 38572935-38573073Exon5: 20 residues, 38573725-38573779Exon6: 96 residues, 38576641-38576923Exon7: 43 residues, 38578909-38579032Exon8: 60 residues, 38582903-38583077Exon9: 53 residues, 38591791-38591946Exon10: 42 residues, 38593155-38593276Exon11: 56 residues, 38595828-38595990Exon12: 149 residues, 38597425-38597866Exon13: 119 residues, 38602185-38602536Exon14: 60 residues, 38603894-38604068Exon15: 81 residues, 38614223-38614462Exon16: 46 residues, 38615412-38615545Exon17: 126 residues, 38620206-38620578Exon18: 62 residues, 38621223-38621403Exon19: 68 residues, 38622445-38622643Exon20: 49 residues, 38623163-38623305Exon21: 23 residues, 38624645-38624709Exon22: 79 residues, 38626228-38626459Exon23: 32 residues, 38630237-38630329Exon24: 45 residues, 38637337-38637466Exon25: 32 residues, 38638894-38638984Exon26: 41 residues, 38646805-38646924Exon27: 110 residues, 38649529-38649854Exon28: 49 residues, 38666025-38666167Exon29: 2 residues, -Jump to SCN5A_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 4592 38024010-38046119 ~-22K 25407(PLCD1)(-)Loci: 3348 38182029-38271982 ~-90K 25418(OXSR1)(+)Loci: 4593 38564557-38666167 ~-102K 25429(SCN5A)(-)Loci: 4594 38713841-38810505 ~-97K 25434(SCN10A)(-)Loci: 4595 38862263-38967056 ~-105K 25435(SCN11A)(-)Loci: 3347 38004533-38023679 ~-19K 25403(VILL)(+)Link out to UCSC