InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN8A

Summary

InnateDB Protein

IDBP-584069.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCN8A

Protein Name

sodium channel, voltage gated, type VIII, alpha subunit

Synonyms

CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4;

Species

Homo sapiens

Ensembl Protein

ENSP00000440360

InnateDB Gene

IDBG-33569 (SCN8A)

Protein Structure

UniProt Annotation

Function

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 Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation. {ECO:0000269PubMed:19136557}.

Subcellular Localization

Membrane {ECO:0000269PubMed:19136557}; Multi-pass membrane protein {ECO:0000269PubMed:19136557}.Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.

Disease Associations

Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269PubMed:16236810}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269PubMed:22365152}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages. {ECO:0000269PubMed:19136557}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005248	voltage-gated sodium channel activity
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0007422	peripheral nervous system development
GO:0019228	neuronal action potential
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0042552	myelination
GO:0055085	transmembrane transport
GO:0086010	membrane depolarization during action potential

Cellular Component

GO:0001518	voltage-gated sodium channel complex
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030018	Z disc
GO:0033268	node of Ranvier
GO:0043194	axon initial segment

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001696 Voltage gated sodium channel, alpha subunit
IPR003915 Polycystic kidney disease type 2 protein
IPR005821 Ion transport domain
IPR008054 Voltage gated sodium channel, alpha-8 subunit
IPR010526 Sodium ion transport-associated
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR024583 Domain of unknown function DUF3451

PFAM

PF00612
PF00520
PF06512
PF08016
PF11933

PRINTS

PR00170
PR01433
PR01667

PIRSF

SMART

SM00015

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt