Search
nicotinic receptor gamma; acetylcholine receptor subunit gamma (CHRNG, ACHRG)
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:
- defects in CHRNG are a cause of
a) lethal type multiple pterygium syndrome
b) nonlethal type multiple pterygium syndrome (Escobar syndrome)
General
glycoprotein
ionotropic receptor subunit
transmembrane 4e protein
Properties
SIZE: entity length = 517 aa
MW = 58 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-240}
MOTIF: signal sequence {1-22}
N-glycosylation site {N52}
cysteine residue {C150}
MODIFICATION: cysteine residue {C164}
N-glycosylation site {N163}
cysteine residue {C164}
MODIFICATION: cysteine residue {C150}
transmembrane domain {241-265}
cytoplasmic loop {266-274}
transmembrane domain {275-293}
MOTIF: Thr phosphorylation site {T285}
exoplasmic loop {294-308}
transmembrane domain {309-330}
cytoplasmic loop {331-474}
transmembrane domain {475-495}
exoplasmic domain {496-517}
Database Correlations
OMIM correlations
UniProt P07510
PFAM correlations
Entrez Gene 1146
Kegg hsa:1146
References
- UniProt :accession P07510
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNG
- Hemmings HC et al,
Role of protein phosphorylation in neuronal signal transduction
FASEB J 3:1583 1989
PMID: 2493406
Component-of
nicotinic receptor (nicotinic acetylcholine receptor, nAChR)