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ε

Family: Nicotinic acetylcholine receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Physiological Consequences of Altering Gene Expression
Clinically-Relevant Mutations and Pathophysiology
References
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 493 17p13-p12 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 1
Mouse 4 493 11 B3 Chrne cholinergic receptor, nicotinic, epsilon polypeptide 2
Rat 4 494 10q24 Chrne cholinergic receptor, nicotinic, epsilon (muscle) 10
Previous and Unofficial Names
ACHRE
cholinergic receptor, nicotinic, epsilon
acetylcholine receptor, nicotinic, epsilon (muscle)
acetylcholine receptor epsilon
acetylcholine receptor subunit epsilon
cholinergic receptor, nicotinic, epsilon polypeptide
epsilon-subunit
gene for acetylcholine receptor epsilon subunit
Acre
AChrepsilon
Database Links
ChEMBL Target 10639 (Hs), 11211 (Hs), 10641 (Rn), 10640 (Rn)
Ensembl ENSG00000108556 (Hs), ENSMUSG00000014609 (Mm), ENSRNOG00000003777 (Rn)
Entrez Gene 1145 (Hs), 11448 (Mm), 29422 (Rn)
GeneCards CHRNE (Hs)
GenitoUrinary Development Molecular Anatomy Project Chrne (Mm)
HomoloGene 60 (Hs)
Human Protein Reference Database 00008 (Hs)
InterPro Q04844 (Hs), P20782 (Mm), P09660 (Rn)
KEGG Gene hsa:1145 (Hs), mmu:11448 (Mm), rno:29422 (Rn)
OMIM 100725 (Hs)
Orphanet Gene ORPHA119425 (Hs)
PharmGKB Gene PA26498 (Hs)
PhosphoSitePlus Q04844 (Hs), P20782 (Mm)
Protein Ontology (PRO) PRO:000005467 (Hs)
RefSeq Nucleotide NM_000080 (Hs), NM_009603 (Mm), NM_017194 (Rn)
RefSeq Protein NP_000071 (Hs), NP_033733 (Mm), NP_058890 (Rn)
TreeFam ENSG00000108556 (Hs), ENSMUSG00000014609 (Mm), ENSRNOG00000003777 (Rn)
UniGene Hs. 654535 (Hs)
UniProt Q04844 (Hs), P20782 (Mm), P09660 (Rn)
Wikipedia ε
Nicotinic acetylcholine receptors
Search for 3D structures on the PDB
Search by keyword: Nicotinic acetylcholine receptors ε Search by accession number: P20782, P09660, Q04844
Natural/Endogenous Ligand(s)
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
In knockout mice, loss of the ε-subunit is partially compensated by expression of the γ-subunit, but results in premature death 2 to 3 months after birth. Mice display impaired neuromuscular transmission, progressive muscle weakness and atrophy.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene knockout
References:  8-9
Mice with an ε-subunit null mutation associated with the human AChR deficiency syndrome die between 10 and 14 weeks after birth. However, mice with the ε null mutation but which also consitutively express the human γ-subunit survive into adult life.
Species:  Mouse
Tissue:  in vivo
Technique:  Knock-in
References:  3
Clinically-Relevant Mutations and Pathophysiology
Disease:  Congenital myasthenic syndrome associated with severe end-plate AChR deficiency
OMIM:  608931
Orphanet:  98913, 98913
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift/nonsense Human Multiple 4
Disease:  Fast-channel congenital myasthenic syndromes
OMIM:  608930
Orphanet:  98913
References:  6-7
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift Human Multiple 5-7
Missense Human Multiple 5-7
Disease:  Congenital myasthenic syndromes
OMIM:  100725
References:  5,7
Mutations not determined
Disease:  Slow-channel congenital myasthenic syndromes
OMIM:  601462
Orphanet:  98913
References:  6-7
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Multiple 6-7

REFERENCES

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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. 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]

5. 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]

6. 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]

7. 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]

8. 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]

9. 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. U.S.A., 93 (23): 13286-91. [PMID:8917583]

10. 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]

To cite this database page, please use the following:

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: ε. Last modified on 23/01/2012. Accessed on 19/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=477.


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