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Sodium channel protein type 5 subunit alpha

Summary

UniProt ID

Q14524

Gene Symbol

SCN5A

Gene ID

6331

Organism

Homo sapiens (human)

External Links

GlyGen: Q14524
PubChem: Q14524
The Human Metabolome Database: HMDBP09086
The O-GlcNAc Database: Q14524
O-GlcNAcAtlas: Q14524
Re-Glyco: Q14524

Annotation

Keyword

3D-structure
Alternative splicing
Atrial fibrillation
Brugada syndrome
Calmodulin-binding
Cardiomyopathy
Cell junction
Cell membrane
Cytoplasm
Disease variant
Disulfide bond
Glycoprotein
Long QT syndrome
Methylation
Phosphoprotein
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Ubl conjugation
Voltage-gated channel

Gene Ontology (GO)

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GO Term
nucleolus
plasma membrane
membrane
nucleoplasm
endoplasmic reticulum
cell surface
Z disc
T-tubule
sarcolemma
perinuclear region of cytoplasm

Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

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GO Term
cardiac muscle contraction
regulation of heart rate
positive regulation of sodium ion transport
cerebellum development
sodium ion transmembrane transport
membrane depolarization
regulation of ventricular cardiac muscle cell membrane repolarization
regulation of atrial cardiac muscle cell membrane depolarization
regulation of atrial cardiac muscle cell membrane repolarization
regulation of ventricular cardiac muscle cell membrane depolarization

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GO Term
fibroblast growth factor binding
enzyme binding
protein kinase binding
protein domain specific binding
ankyrin binding
ubiquitin protein ligase binding
transmembrane transporter binding
nitric-oxide synthase binding
voltage-gated sodium channel activity involved in AV node cell action potential
voltage-gated sodium channel activity involved in bundle of His cell action potential

Annotation information from UniProt.

Sequence

MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQASKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIVGALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLVWESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQNQATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRKRMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSEADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGVVSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQGWNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWIETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQLALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQPVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGSTADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYHIVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINILAKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPTLFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFAYVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKFDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRVLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSVTRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

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Position	Description	GlyTouCan ID	Source
214	N-linked (GlcNAc...) asparagine		UniProt GlyGen
283	N-linked (GlcNAc...) asparagine		UniProt GlyGen
288	N-linked (GlcNAc...) asparagine		UniProt GlyGen
291	N-linked (GlcNAc...) asparagine		UniProt GlyGen
318	N-linked (GlcNAc...) asparagine	G14943SF	UniProt GlyGen
328	N-linked (GlcNAc...) asparagine	G26436YP	UniProt GlyGen
740	N-linked (GlcNAc...) asparagine		UniProt GlyGen
803	N-linked (GlcNAc...) asparagine		UniProt GlyGen
864	N-linked (GlcNAc...) asparagine		UniProt GlyGen
1026		G49108TO	The O-GlcNAc Database

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
Interaction between L1 and Ankyrins	Homo sapiens
Phase 0 - rapid depolarisation	Homo sapiens

Disease

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0050650	familial atrial fibrillation	Alliance of Genome Resources
DOID:0110218	Brugada syndrome 1	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3	Alliance of Genome Resources
DOID:0111074	progressive familial heart block type IA	Alliance of Genome Resources
DOID:13884	sick sinus syndrome	Alliance of Genome Resources
DOID:2843	long QT syndrome	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements