Acetylcholine receptor subunit epsilon

NameAcetylcholine receptor subunit epsilon
SynonymsACHRE
Gene NameCHRNE
OrganismHuman
Amino acid sequence
>lcl|BSEQ0013247|Acetylcholine receptor subunit epsilon
MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL
ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF
GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF
AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP
EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
RVPDLPYAPCIQP
Number of residues493
Molecular Weight54696.54
Theoretical pINone
GO Classification
Functions
    acetylcholine-activated cation-selective channel activity
acetylcholine receptor activity
cation transmembrane transporter activity
Processes
    synaptic transmission, cholinergic
skeletal muscle contraction
neuromuscular synaptic transmission
transport
response to nicotine
signal transduction
regulation of membrane potential
muscle contraction
cation transmembrane transport
synaptic transmission
neurological system process
Components
    cell junction
acetylcholine-gated channel complex
integral component of plasma membrane
synapse
neuron projection
postsynaptic membrane
plasma membrane
General FunctionCation transmembrane transporter activity
Specific FunctionAfter 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.
Transmembrane Regions240-264 273-291 307-328 457-480
GenBank Protein ID
UniProtKB IDQ04844
UniProtKB Entry NameACHE_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0013248|Acetylcholine receptor subunit epsilon (CHRNE)
ATGGCAAGGGCTCCGCTTGGGGTCCTGCTCCTCTTGGGGCTTCTCGGCAGGGGTGTGGGG
AAGAACGAGGAACTGCGTCTTTATCACCATCTCTTCAACAACTATGACCCAGGAAGCCGG
CCAGTGCGGGAGCCTGAGGATACTGTCACCATCAGCCTCAAGGTCACCCTGACGAATCTC
ATCTCACTGAATGAAAAAGAGGAGACTCTCACCACTAGCGTCTGGATTGGAATCGATTGG
CAGGATTACCGACTCAACTACAGCAAGGACGACTTTGGGGGTATAGAAACCCTGCGAGTC
CCTTCAGAACTCGTGTGGCTGCCAGAGATTGTGCTGGAAAACAATATTGATGGCCAGTTC
GGAGTGGCCTACGACGCCAACGTGCTCGTCTACGAGGGCGGCTCCGTGACGTGGCTGCCT
CCGGCCATCTACCGCAGCGTCTGCGCAGTGGAGGTCACCTACTTCCCCTTCGATTGGCAG
AACTGTTCGCTTATTTTCCGCTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTT
GCCGTAGACAACGACGGCAAGACCATCAACAAGATCGACATCGACACAGAGGCCTATACT
GAGAACGGCGAGTGGGCCATCGACTTCTGCCCGGGGGTGATCCGCCGCCACCACGGTGGC
GCCACCGACGGCCCAGGGGAGACTGACGTCATCTACTCGCTCATCATCCGCCGGAAGCCG
CTCTTCTACGTCATTAACATCATCGTGCCCTGTGTGCTCATCTCGGGCCTGGTGCTGCTC
GCCTACTTCCTGCCGGCGCAGGCCGGCGGCCAGAAATGCACGGTCTCCATCAACGTCCTG
CTCGCCCAGACCGTCTTCTTGTTCCTCATTGCCCAGAAAATCCCAGAGACTTCTCTGAGC
GTGCCGCTCCTGGGCAGGTTCCTTATTTTCGTCATGGTGGTCGCCACGCTCATTGTCATG
AATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCG
CGGCTGCGCCACGTTCTCCTGGAGCTGCTGCCGCGCCTCCTGGGCTCCCCGCCGCCGCCC
GAGGCCCCCCGGGCCGCCTCGCCCCCAAGGCGGGCGTCGTCGGTGGGCTTATTGCTCCGC
GCGGAGGAGCTGATACTGAAAAAGCCACGGAGCGAGCTCGTGTTTGAGGGGCAGAGGCAC
CGGCAGGGGACCTGGACGGCTGCCTTCTGCCAGAGCCTGGGCGCCGCCGCCCCCGAGGTC
CGCTGCTGTGTGGATGCCGTGAACTTCGTGGCCGAGAGCACGAGAGATCAGGAGGCCACC
GGCGAGGAAGTGTCCGACTGGGTGCGCATGGGGAATGCCCTTGACAACATCTGCTTCTGG
GCCGCTCTGGTGCTCTTCAGCGTGGGCTCCAGCCTCATCTTCCTCGGGGCCTACTTCAAC
CGAGTGCCTGATCTCCCCTACGCGCCGTGTATCCAGCCTTAG
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:1966
Chromosome Location17
LocusNone
References
  1. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, Newsom-Davis J: Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur J Biochem. 1993 Jul 15;215(2):229-38.[7688301 ]
  2. Gomez CM, Gammack JT: A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology. 1995 May;45(5):982-5.[7538206 ]
  3. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG: 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 U S A. 1995 Jan 31;92(3):758-62.[7531341 ]
  4. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27.[8872460 ]
  5. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG: Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul;17(1):157-70.[8755487 ]
  6. Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG: Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet. 1997 May;6(5):753-66.[9158150 ]
  7. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM: Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol. 2000 Sep;116(3):449-62.[10962020 ]
  8. Croxen R, Hatton C, Shelley C, Brydson M, Chauplannaz G, Oosterhuis H, Vincent A, Newsom-Davis J, Colquhoun D, Beeson D: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology. 2002 Jul 23;59(2):162-8.[12141316 ]
  9. Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG: Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site. Neurology. 2012 Jul 31;79(5):449-54. doi: 10.1212/WNL.0b013e31825b5bda. Epub 2012 May 16.[22592360 ]

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