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Target not currently curated in GtoImmuPdb
Target id: 477
Nomenclature: nicotinic acetylcholine receptor ε subunit
Gene and Protein Information ![]() |
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Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | 4 | 493 | 17p13.2 | CHRNE | cholinergic receptor nicotinic epsilon subunit | 1 |
Mouse | 4 | 493 | 11 43.14 cM | Chrne | cholinergic receptor, nicotinic, epsilon polypeptide | 2 |
Rat | 4 | 494 | 10q24 | Chrne | cholinergic receptor nicotinic epsilon subunit | 16 |
Previous and Unofficial Names ![]() |
ACHRE | Acre | cholinergic receptor, nicotinic, epsilon (muscle) | cholinergic receptor, nicotinic epsilon | cholinergic receptor |
Database Links ![]() |
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Alphafold | Q04844 (Hs), P20782 (Mm), P09660 (Rn) |
CATH/Gene3D | 2.70.170.10 |
ChEMBL Target | CHEMBL2484 (Hs), CHEMBL3091265 (Mm), CHEMBL4961 (Rn) |
Ensembl Gene | ENSG00000108556 (Hs), ENSMUSG00000014609 (Mm), ENSRNOG00000003777 (Rn) |
Entrez Gene | 1145 (Hs), 11448 (Mm), 29422 (Rn) |
Human Protein Atlas | ENSG00000108556 (Hs) |
KEGG Gene | hsa:1145 (Hs), mmu:11448 (Mm), rno:29422 (Rn) |
OMIM | 100725 (Hs) |
Orphanet | ORPHA119425 (Hs) |
Pharos | Q04844 (Hs) |
RefSeq Nucleotide | NM_000080 (Hs), NM_009603 (Mm), NM_017194 (Rn) |
RefSeq Protein | NP_000071 (Hs), NP_033733 (Mm), NP_058890 (Rn) |
UniProtKB | Q04844 (Hs), P20782 (Mm), P09660 (Rn) |
Wikipedia | CHRNE (Hs) |
Natural/Endogenous Ligands ![]() |
acetylcholine |
Tissue Distribution Comments | |
The ε-subunit mRNA is expressed in vertebrate skeletal muscle. Whereas expression of the γ-subunit predominates in embryonic muscle, expression of the ε-subunit occurs during early neonatal development and persists in adult muscle. |
Physiological Consequences of Altering Gene Expression ![]() |
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Clinically-Relevant Mutations and Pathophysiology ![]() |
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1. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, Newsom-Davis J. (1993) Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur J Biochem, 215 (2): 229-38. [PMID:7688301]
2. Buonanno A, Mudd J, Merlie JP. (1989) Isolation and characterization of the beta and epsilon subunit genes of mouse muscle acetylcholine receptor. J Biol Chem, 264 (13): 7611-6. [PMID:2708381]
3. Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. (2004) A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. Hum Mol Genet, 13 (23): 2947-57. [PMID:15471888]
4. Croxen R, Hatton C, Shelley C, Brydson M, Chauplannaz G, Oosterhuis H, Vincent A, Newsom-Davis J, Colquhoun D, Beeson D. (2002) Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology, 59 (2): 162-8. [PMID:12141316]
5. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. (1996) End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol, 40 (5): 810-7. [PMID:8957026]
6. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt 2nd JN, Hutchinson DO, Brengman JM, Bren N et al.. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet, 5 (9): 1217-27. [PMID:8872460]
7. Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: A diverse array of molecular targets. J Neurocytol, 32 (5-8): 1017-37. [PMID:15034283]
8. Engel AG, Ohno K, Sine SM. (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci, 4 (5): 339-52. [PMID:12728262]
9. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J Mol Neurosci, 40 (1-2): 143-53. [PMID:19688192]
10. Missias AC, Mudd J, Cunningham JM, Steinbach JH, Merlie JP, Sanes JR. (1997) Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit. Development, 124 (24): 5075-86. [PMID:9362465]
11. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. (1995) Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci USA, 92 (3): 758-62. [PMID:7531341]
12. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. (1996) Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron, 17 (1): 157-70. [PMID:8755487]
13. Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG. (2012) Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology, 79 (5): 449-54. [PMID:22592360]
14. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. (2000) Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol, 116 (3): 449-62. [PMID:10962020]
15. Witzemann V, Schwarz H, Koenen M, Berberich C, Villarroel A, Wernig A, Brenner HR, Sakmann B. (1996) Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. Proc Natl Acad Sci USA, 93 (23): 13286-91. [PMID:8917583]
16. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur J Biochem, 194 (2): 437-48. [PMID:1702709]