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{{ | '''Acetylcholine receptor subunit delta''' is a [[protein]] that in humans is encoded by the ''CHRND'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRND cholinergic receptor, nicotinic, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144| accessdate = }}</ref> | ||
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== Function == | |||
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.<ref name="entrez" /> | |||
==See also== | == Interactions == | ||
CHRND has been shown to [[Protein-protein interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 }}</ref><ref name=pmid8910344>{{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 }}</ref> | |||
== See also == | |||
* [[Nicotinic acetylcholine receptor]] | * [[Nicotinic acetylcholine receptor]] | ||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Colledge M, Froehner SC | title = Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction | journal = Ann. N. Y. Acad. Sci. | volume = 841 | issue = | pages = 17–27 | year = 1998 | pmid = 9668219 | doi = 10.1111/j.1749-6632.1998.tb10907.x }} | |||
* {{cite journal | vauthors = Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J | title = Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17 | journal = Ann. Hum. Genet. | volume = 54 | issue = Pt 3 | pages = 199–208 | year = 1990 | pmid = 2221824 | doi = 10.1111/j.1469-1809.1990.tb00378.x }} | |||
*{{cite journal | * {{cite journal | vauthors = Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J | title = A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671 | journal = J. Neurosci. | volume = 9 | issue = 3 | pages = 1082–96 | year = 1989 | pmid = 2564429 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | year = 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 }} | ||
*{{cite journal | * {{cite journal | vauthors = Pasteris NG, Trask BJ, Sheldon S, Gorski JL | title = Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35 | journal = Hum. Mol. Genet. | volume = 2 | issue = 7 | pages = 953–9 | year = 1993 | pmid = 8103404 | doi = 10.1093/hmg/2.7.953 }} | ||
*{{cite journal | * {{cite journal | vauthors = Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM | title = New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome | journal = Hum. Mol. Genet. | volume = 5 | issue = 9 | pages = 1217–27 | year = 1996 | pmid = 8872460 | doi = 10.1093/hmg/5.9.1217 }} | ||
*{{cite journal | * {{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | year = 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 }} | ||
*{{cite journal | * {{cite journal | vauthors = Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D | title = Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita | journal = J. Clin. Invest. | volume = 108 | issue = 1 | pages = 125–30 | year = 2001 | pmid = 11435464 | pmc = 209343 | doi = 10.1172/JCI12935 }} | ||
*{{cite journal | * {{cite journal | vauthors = Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J | title = Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms | journal = Ann. Neurol. | volume = 51 | issue = 1 | pages = 102–12 | year = 2002 | pmid = 11782989 | pmc = 4841278 | doi = 10.1002/ana.10077 }} | ||
*{{cite journal | * {{cite journal | vauthors = Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG | title = Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation | journal = Neurology | volume = 59 | issue = 12 | pages = 1881–8 | year = 2002 | pmid = 12499478 | doi = 10.1212/01.wnl.0000042422.87384.2f }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
== External links == | == External links == | ||
* {{MeshName|CHRND+protein,+human}} | * {{MeshName|CHRND+protein,+human}} | ||
* {{UCSC gene info|CHRND}} | |||
{{NLM content}} | {{NLM content}} | ||
{{Ligand-gated ion channels}} | {{Ligand-gated ion channels}} | ||
[[Category:Ion channels]] | [[Category:Ion channels]] | ||
{{ | [[Category:Nicotinic acetylcholine receptors]] | ||
{{membrane-protein-stub}} |
Latest revision as of 02:32, 27 October 2017
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Identifiers | |||||||
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External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[1]
Function
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.[1]
Interactions
CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[2][3]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
- ↑ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- ↑ Wang ZZ, Hardy SF, Hall ZW (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Further reading
- Colledge M, Froehner SC (1998). "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". Ann. N. Y. Acad. Sci. 841: 17–27. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219.
- Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824.
- Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671". J. Neurosci. 9 (3): 1082–96. PMID 2564429.
- Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet. 2 (7): 953–9. doi:10.1093/hmg/2.7.953. PMID 8103404.
- Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
- Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita". J. Clin. Invest. 108 (1): 125–30. doi:10.1172/JCI12935. PMC 209343. PMID 11435464.
- Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms". Ann. Neurol. 51 (1): 102–12. doi:10.1002/ana.10077. PMC 4841278. PMID 11782989.
- Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology. 59 (12): 1881–8. doi:10.1212/01.wnl.0000042422.87384.2f. PMID 12499478.
External links
- CHRND+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CHRND genome location and CHRND gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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