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MGP000556

UniProt Annotations

Entry Information
Gene Namecholinergic receptor, nicotinic, alpha 4 (neuronal)
Protein EntryACHA4_HUMAN
UniProt IDP43681
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43681-1; Sequence=Displayed; Name=2; IsoId=P43681-2; Sequence=VSP_054275, VSP_054276; Note=No experimental confirmation available.;
DiseaseEpilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269|PubMed:10563623, ECO:0000269|PubMed:14623738, ECO:0000269|PubMed:7550350}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAfter binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions. {ECO:0000269|PubMed:22361591}.
SimilarityBelongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 4/CHRNA4 sub-subfamily. {ECO:0000305}.
Subcellular LocationCell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.
SubunitNeuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 subunit can be combined to beta- 2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required for proper folding and assembly. {ECO:0000269|PubMed:16120769, ECO:0000269|PubMed:22361591}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/chrna4/";
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