T3DB: Acetylcholine receptor subunit epsilon

Name	Acetylcholine receptor subunit epsilon
Synonyms	ACHRE
Gene Name	CHRNE
Organism	Human
Amino acid sequence	>lcl\|BSEQ0013247\|Acetylcholine receptor subunit epsilon MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN RVPDLPYAPCIQP
Number of residues	493
Molecular Weight	54696.54
Theoretical pI	Not Available
GO Classification	Functions acetylcholine-activated cation-selective channel activity acetylcholine receptor activity cation transmembrane transporter activity Processes neuromuscular synaptic transmission response to nicotine regulation of membrane potential muscle contraction cation transmembrane transport neurological system process transport signal transduction skeletal muscle contraction synaptic transmission synaptic transmission, cholinergic Components neuron projection acetylcholine-gated channel complex postsynaptic membrane plasma membrane cell junction integral component of plasma membrane synapse
General Function	Cation transmembrane transporter activity
Specific 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.
Pfam Domain Function	Neur_chan_LBD (PF02931 ) Neur_chan_memb (PF02932 )
Transmembrane Regions	240-264 273-291 307-328 457-480
GenBank Protein ID	Not Available
UniProtKB ID	Q04844
UniProtKB Entry Name	ACHE_HUMAN
Cellular Location	Cell 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	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:1966
Chromosome Location	17
Locus	Not Available
References	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 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 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 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 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 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 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 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 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