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nicotinic receptor alpha-4; neuronal acetylcholine receptor subunit alpha-4 (CHRNA4, NACRA4)
Function:
- nicotinic receptor alpha subunit
- forms neuronal nicotinic receptors with CHRNB2, CHRNB3 & CHRNB4
- interaction with RIC3 is required for proper folding & assembly
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- defects in CHRNA4 are the cause of nocturnal frontal lobe epilepsy type 1
General
nicotinic receptor alpha
Properties
SIZE: entity length = 627 aa
MW = 70 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-242}
MOTIF: signal sequence {1-28}
N-glycosylation site {N57}
N-glycosylation site {N107}
cysteine residue {C161}
MODIFICATION: cysteine residue {C175}
N-glycosylation site {N174}
cysteine residue {C175}
MODIFICATION: cysteine residue {C161}
cysteine residue {C225}
MODIFICATION: cysteine residue {C226}
cysteine residue {C226}
MODIFICATION: cysteine residue {C225}
transmembrane domain {243-267}
cytoplasmic loop {268-274}
transmembrane domain {275-293}
exoplasmic loop {294-308}
transmembrane domain {309-330}
cytoplasmic loop {331-600}
transmembrane domain {601-619}
exoplasmic domain {620-627}
Database Correlations
OMIM correlations
MORBIDMAP 118504
UniProt P43681
PFAM correlations
Entrez Gene 1137
Kegg hsa:1137
References
- UniProt :accession P43681
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA4
NIEHS SNPs
http://egp.gs.washington.edu/data/chrna4/