Tclin SCN1A Sodium channel protein type 1 subunit alpha

Protein Summary

Description

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. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

Uniprot Accession IDs

• P35498
• E9PG49
• Q16172
• Q585T7
• Q8IUJ6
• Q96LA3
• Q9C008

Gene Name

• SCN1A

Ensembl ID

• ENST00000303395
• ENSP00000303540
• ENSG00000144285
• ENST00000375405
• ENSP00000364554
• ENST00000409050
• ENSP00000386312
• ENST00000423058
• ENSP00000407030
• ENST00000635750
• ENSP00000490799
• ENST00000637988
• ENSP00000490780

Symbol

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

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.96
protein domain	0.92
cell type or tissue	0.79
molecular function	0.76
cell line	0.7

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Voltage-gated Ion Channel / Voltage-gated Sodium Channel / Sodium Channel Protein Type 1 Subunit Alpha

Protein / Transporter / Ion Channel / Voltage-gated Ion Channel / Voltage-gated Calcium Channel / Sodium Channel Protein Type 1 Subunit Alpha

Protein / Transporter / Ion Channel / Sodium Channel / Voltage-gated Sodium Channel / Sodium Channel Protein Type 1 Subunit Alpha

Protein / Transporter / Ion Channel / Calcium Channel / Voltage-gated Calcium Channel / Sodium Channel Protein Type 1 Subunit Alpha

DTO Classes

Protein / Ion Channel / Sodium Channel Family / Nav1.1/scn1a Subfamily / Sodium Channel Protein Type 1 Subunit Alpha

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1155.1   (req: < 5)

Gene RIFs: 347   (req: <= 3)

Antibodies: 178   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1155.1   (req: >= 5)

Gene RIFs: 347   (req: > 3)

Antibodies: 178   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 50

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 23