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Protein Page:
nAChRE (human)

Overview
nAChRE 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. 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. Defects in CHRNE are a cause of congenital myasthenic syndrome slow-channel type (SCCMS). SCCMS is the most 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. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNE are a cause of congenital myasthenic syndrome fast-channel type (FCCMS). FCCMS is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due 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. Defects in CHRNE are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Epsilon/CHRNE sub-subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, ligand-gated; Channel, cation; Membrane protein, multi-pass; Membrane protein, integral
Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction
Molecular Function: cation transmembrane transporter activity; acetylcholine receptor activity; nicotinic acetylcholine-activated cation-selective channel activity
Biological Process: synaptic transmission; regulation of membrane potential; muscle contraction; transport; signal transduction; cation transport; synaptic transmission, cholinergic
Reference #:  Q04844 (UniProtKB)
Alt. Names/Synonyms: CHRNE
Gene Symbols: CHRNE
Molecular weight: 54,697 Da
Basal Isoelectric point: 5.15  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease
Select Structure to View Below

nAChRE

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T58-p ISLKVTLtNLIsLNE
0 1 S62-p VTLtNLIsLNEKEET
0 1 T316-p IFVMVVAtLIVMNCV
0 1 S329-p CVIVLNVsQRTPTTH
0 1 S356-p LLPRLLGsPPPPEAP
0 1 S391-p LILKKPRsELVFEGQ
  mouse

 
T58 ITLKVTLTNLISLNE
S62 VTLTNLISLNEKEET
T316 IFVMVVATLIVMNCV
S329 CVIVLNVSLRTPTTH
S356 LLPRLLGSSPPPEDP
S391 LILKKPRSELVFEGQ
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