Homo sapiens Protein: CHRNE | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-20043.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CHRNE | ||||||||||||||||||
Protein Name | cholinergic receptor, nicotinic, epsilon | ||||||||||||||||||
Synonyms | ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000293780 | ||||||||||||||||||
InnateDB Gene | IDBG-20041 (CHRNE) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. | ||||||||||||||||||
Subcellular Localization | Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Note=The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early- onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. {ECO:0000269PubMed:12141316, ECO:0000269PubMed:7531341, ECO:0000269PubMed:7538206, ECO:0000269PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269PubMed:10962020, ECO:0000269PubMed:8755487}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. {ECO:0000269PubMed:9158150}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002394
Nicotinic acetylcholine receptor IPR006029 Neurotransmitter-gated ion-channel transmembrane domain IPR006201 Neurotransmitter-gated ion-channel IPR006202 Neurotransmitter-gated ion-channel ligand-binding |
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PFAM |
PF02932
PF02931 |
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PRINTS |
PR00254
PR00252 |
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PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q04844 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q04844 | ||||||||||||||||||
TrEMBL | Q8N731 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1145 | ||||||||||||||||||
UniGene | Hs.654535 | ||||||||||||||||||
RefSeq | NP_000071 | ||||||||||||||||||
HUGO | HGNC:1966 | ||||||||||||||||||
OMIM | 100725 | ||||||||||||||||||
CCDS | CCDS11058 | ||||||||||||||||||
HPRD | 00008 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB070507 AF105999 CH471108 X66403 | ||||||||||||||||||
GenPept | AAD24503 BAB97270 CAA47030 EAW90395 EAW90396 | ||||||||||||||||||