CHRND: Difference between revisions

CHRND
Identifiers
Aliases	CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDs	OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	232,536,667 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	87,127,792 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; muscle of thigh; ; testicle; ; glutes; ; skeletal muscle tissue; ; tibialis anterior muscle; ; mucosa of nose; ; granulocyte; ; Hypothalamus; ; blood;
	Top expressed in
	secondary oocyte; ; tongue muscle; ; zygote; ; embryo; ; primary oocyte; ; muscle of thigh; ; esophagus; ; lip; ; somite; ; skeletal muscle tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	acetylcholine binding; ion channel activity; extracellular ligand-gated ion channel activity; ligand-gated ion channel activity; acetylcholine-gated cation-selective channel activity; transmembrane signaling receptor activity; acetylcholine receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;
Cellular component	integral component of membrane; postsynaptic membrane; membrane; synapse; cell junction; acetylcholine-gated channel complex; nucleoplasm; cytosol; plasma membrane; neuromuscular junction; integral component of postsynaptic specialization membrane; integral component of plasma membrane; neuron projection;
Biological process	muscle contraction; regulation of membrane potential; skeletal muscle contraction; response to nicotine; cation transport; synaptic transmission, cholinergic; ion transport; skeletal muscle tissue growth; neuromuscular synaptic transmission; neuromuscular process; musculoskeletal movement; signal transduction; regulation of postsynaptic membrane potential; excitatory postsynaptic potential; cation transmembrane transport; ion transmembrane transport; chemical synaptic transmission; nervous system process;
	Sources:Amigo / QuickGO
Orthologs
	1144
	11447
	ENSG00000135902
	ENSMUSG00000026251
	Q07001
	P02716
	NM_000751; NM_001256657; NM_001311195; NM_001311196
	NM_021600
	NP_000742; NP_001243586; NP_001298124; NP_001298125
	NP_067611
	Wikidata
View/Edit Human	View/Edit Mouse

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Latest revision as of 04:21, 9 July 2023

Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.^[5]

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.^[5]

Interactions

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.^[6]^[7]

Clinical significance

Mutations in CHRND are known to cause the following conditions:^[8]

Multiple pterygium syndrome, lethal type (LMPS);
Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026251 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "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.
^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.

External links

CHRND+protein,+human at the U.S. 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.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026251 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".

[pmid7695910-6] 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.

[pmid8910344-7] 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.

[8] "UniProt". www.uniprot.org. Retrieved 2023-07-08.

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@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
-{{PBB|geneid=1144}}
+{{Infobox_gene}}
-'''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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144| accessdate = }}</ref>
+'''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}}</ref>
+== Function ==
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{PBB_Summary
-| section_title =
-| summary_text = 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" />
-}}
+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" />
-==Interactions==
-CHRND has been shown to [[Protein-protein_interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal |last=Kreienkamp |first=H J |authorlink= |coauthors=Maeda R K, Sine S M, Taylor P |year=[[1995]]|month=Mar. |title=Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor |journal=Neuron |volume=14 |issue=3 |pages=635–44 |publisher= |location = UNITED STATES| issn = 0896-6273| pmid = 7695910 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1016/0896-6273(95)90320-8 }}</ref><ref name=pmid8910344>{{cite journal |last=Wang |first=Z Z |authorlink= |coauthors=Hardy S F, Hall Z W |year=[[1996]]|month=Nov. |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 |publisher= |location = UNITED STATES| issn = 0021-9258| pmid = 8910344 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1074/jbc.271.44.27575 }}</ref>
-==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 | doi-access = free }}</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 | doi-access = free }}</ref>
+== Clinical significance ==
+Mutations in CHRND are known to cause the following conditions:<ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q07001/entry |access-date=2023-07-08 |website=www.uniprot.org}}</ref>
+* Multiple pterygium syndrome, lethal type (LMPS);
+* Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
+* Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
+* Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).
+== See also ==
 * [[Nicotinic acetylcholine receptor]]
-==References==
+== References ==
 {{reflist}}
-==Further reading==
+== Further reading ==
 {{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 =  1| pages = 17–27 | year = 1998 | pmid = 9668219 | doi = 10.1111/j.1749-6632.1998.tb10907.x | bibcode = 1998NYASA.841...17C | s2cid = 41992031 }}
-{{PBB_Further_reading
+* {{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 | s2cid = 151624 }}
-| citations =
-*{{cite journal  | author=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 = 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 =  10.1523/JNEUROSCI.09-03-01082.1989| pmc = 6569985 | doi-access = free }}
-*{{cite journal  | author=Beeson D, Jeremiah S, West LF, ''et al.'' |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 | 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 | doi-access = free }}
-*{{cite journal  | author=Luther MA, Schoepfer R, Whiting P, ''et al.'' |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 | 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  | author=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 | 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 | doi-access = free }}
-*{{cite journal  | author=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 | 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 | doi-access = free }}
-*{{cite journal  | author=Engel AG, Ohno K, Milone M, ''et al.'' |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= 1997 |pmid= 8872460 |doi=10.1093/hmg/5.9.1217  }}
+* {{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  | author=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 | 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  | author=Brownlow S, Webster R, Croxen R, ''et al.'' |title=Acetylcholine receptor δ 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 |doi=10.1172/JCI12935  | pmc=209343  }}
+* {{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 | s2cid = 35612575 }}
-*{{cite journal  | author=Gomez CM, Maselli RA, Vohra BP, ''et al.'' |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 |doi=10.1002/ana.10077  }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
-*{{cite journal  | author=Shen XM, Ohno K, Fukudome T, ''et al.'' |title=Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation |journal=Neurology |volume=59 |issue= 12 |pages= 1881–8 |year= 2003 |pmid= 12499478 |doi=  }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
-*{{cite journal  | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4 |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
-}}
 {{refend}}
 == External links ==
 * {{MeshName|CHRND+protein,+human}}
+* {{UCSC gene info|CHRND}}
-{{membrane-protein-stub}}
 {{NLM content}}
 {{Ligand-gated ion channels}}
 [[Category:Ion channels]]
+[[Category:Nicotinic acetylcholine receptors]]
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{membrane-protein-stub}}
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