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nicotinic receptor epsilon; acetylcholine receptor subunit epsilon (CHRNE, ACHRE)
Function:
- nicotinic receptor subunit (muscle)
- subunit of nicotinic receptor (muscle), a pentamer of two alpha chains, & one each of the beta, delta, & gamma (in immature muscle) or epsilon (in mature muscle) chains
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- muscle nicotinic receptor is the major target antigen in the autoimmune disease myasthenia gravis
- defects in CHRNE are a cause of
a) congenital myasthenic syndrome slow-channel type
b) congenital myasthenic syndrome fast-channel type
c) congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS)
General
glycoprotein
ionotropic receptor subunit
phosphoprotein
transmembrane 4e protein
Properties
SIZE: entity length = 493 aa
MW = 55 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-239}
MOTIF: signal sequence {1-20}
N-glycosylation site {N86}
cysteine residue {C148}
MODIFICATION: cysteine residue {C162}
N-glycosylation site {N161}
cysteine residue {C162}
MODIFICATION: cysteine residue {C148}
transmembrane domain {240-264}
cytoplasmic loop {265-272}
transmembrane domain {273-291}
exoplasmic loop {292-306}
transmembrane domain {307-328}
cytoplasmic loop {329-456}
transmembrane domain {457-480}
exoplasmic domain {481-493}
Database Correlations
OMIM correlations
MORBIDMAP 100725
UniProt Q04844
PFAM correlations
Entrez Gene 1145
Kegg hsa:1145
References
- UniProt :accession Q04844
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNE
Component-of
nicotinic receptor (nicotinic acetylcholine receptor, nAChR)