InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN1A

Summary

InnateDB Protein

IDBP-74147.6

Last Modified

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

Gene Symbol

SCN1A

Protein Name

sodium channel, voltage-gated, type I, alpha subunit

Synonyms

EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI;

Species

Homo sapiens

Ensembl Protein

ENSP00000303540

InnateDB Gene

IDBG-74143 (SCN1A)

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.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269PubMed:10742094, ECO:0000269PubMed:11254444, ECO:0000269PubMed:11254445, ECO:0000269PubMed:11524484, ECO:0000269PubMed:11756608, ECO:0000269PubMed:12919402, ECO:0000269PubMed:14672992, ECO:0000269PubMed:15525788, ECO:0000269PubMed:15694566, ECO:0000269PubMed:15715999, ECO:0000269PubMed:16525050, ECO:0000269PubMed:17507202, ECO:0000269PubMed:17561957, ECO:0000269PubMed:18413471, ECO:0000269PubMed:19464195, ECO:0000269PubMed:20117752, ECO:0000269PubMed:20600615, ECO:0000269PubMed:20729507}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. {ECO:0000269PubMed:11359211, ECO:0000269PubMed:12083760, ECO:0000269PubMed:12566275, ECO:0000269PubMed:12754708, ECO:0000269PubMed:12821740, ECO:0000269PubMed:14504318, ECO:0000269PubMed:14738421, ECO:0000269PubMed:15087100, ECO:0000269PubMed:15944908, ECO:0000269PubMed:16122630, ECO:0000269PubMed:16458823, ECO:0000269PubMed:16713920, ECO:0000269PubMed:17054684, ECO:0000269PubMed:17347258, ECO:0000269PubMed:17561957, ECO:0000269PubMed:18413471, ECO:0000269PubMed:19563458, ECO:0000269PubMed:19589774, ECO:0000269PubMed:20110217, ECO:0000269PubMed:20431604, ECO:0000269PubMed:20452746, ECO:0000269PubMed:20522430, ECO:0000269PubMed:20729507}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intractable childhood epilepsy with generalized tonic- clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. {ECO:0000269PubMed:12566275, ECO:0000269PubMed:17507202}. Note=The disease is caused by mutations affecting the gene represented in this entry.Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269PubMed:16054936, ECO:0000269PubMed:17397047, ECO:0000269PubMed:18021921, ECO:0000269PubMed:19332696}. Note=The disease is caused by mutations affecting the gene represented in this entry.Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269PubMed:16326807}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [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

Biological Process

GO:0001508	action potential
GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0007628	adult walking behavior
GO:0019227	neuronal action potential propagation
GO:0019228	neuronal action potential
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0050884	neuromuscular process controlling posture
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:0014704	intercalated disc
GO:0016020	membrane
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0030424	axon
GO:0033268	node of Ranvier
GO:0034706	sodium channel complex
GO:0043025	neuronal cell body
GO:0043194	axon initial segment

Protein Structure and Domains

PDB ID

InterPro

IPR001696 Voltage gated sodium channel, alpha subunit
IPR003915 Polycystic kidney disease type 2 protein
IPR005821 Ion transport domain
IPR008051 Voltage gated sodium channel, alpha-1 subunit
IPR010526 Sodium ion transport-associated
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR024583 Domain of unknown function DUF3451

PFAM

PF00520
PF06512
PF08016
PF11933

PRINTS

PR00170
PR01433
PR01664

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P35498