Acetylcholine receptor subunit epsilon
Details
- Name
- Acetylcholine receptor subunit epsilon
- Synonyms
- ACHRE
- Gene Name
- CHRNE
- Organism
- Humans
- 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
- Functionsacetylcholine receptor activity / acetylcholine-activated cation-selective channel activity / cation transmembrane transporter activityProcessescation transmembrane transport / muscle contraction / neurological system process / neuromuscular synaptic transmission / regulation of membrane potential / response to nicotine / signal transduction / skeletal muscle contraction / synaptic transmission / synaptic transmission, cholinergic / transportComponentsacetylcholine-gated channel complex / cell junction / integral component of plasma membrane / neuron projection / plasma membrane / postsynaptic 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
- Transmembrane Regions
- 240-264 273-291 307-328 457-480
- 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
- Chromosome Location
- 17
- Locus
- Not Available
- External Identifiers
Resource Link UniProtKB ID Q04844 UniProtKB Entry Name ACHE_HUMAN HGNC ID HGNC:1966 - General 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details