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{{Infobox_gene}}
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'''Neuronal acetylcholine receptor subunit alpha-1''', also known as '''nAChRα1''', is a [[protein]] that in humans is encoded by the ''CHRNA1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134| accessdate = }}</ref> The protein encoded by this gene is a subunit of certain [[nicotinic acetylcholine receptor]]s (nAchR).
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Cholinergic receptor, nicotinic, alpha 1 (muscle)
| HGNCid = 1955
| Symbol = CHRNA1
| AltSymbols =; ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
| OMIM = 100690
| ECnumber = 
| Homologene = 59
| MGIid = 87885
| GeneAtlas_image1 = PBB_GE_CHRNA1_206633_at_tn.png
| Function = {{GNF_GO|id=GO:0004889 |text = nicotinic acetylcholine-activated cation-selective channel activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005230 |text = extracellular ligand-gated ion channel activity}} {{GNF_GO|id=GO:0015464 |text = acetylcholine receptor activity}}
| Component = {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005892 |text = nicotinic acetylcholine-gated receptor-channel complex}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0045211 |text = postsynaptic membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0007165 |text = signal transduction}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1134
    | Hs_Ensembl = ENSG00000138435
    | Hs_RefseqProtein = NP_000070
    | Hs_RefseqmRNA = NM_000079
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 175320853
    | Hs_GenLoc_end = 175337416
    | Hs_Uniprot = P02708
    | Mm_EntrezGene = 11435
    | Mm_Ensembl = ENSMUSG00000027107
    | Mm_RefseqmRNA = XM_984917
    | Mm_RefseqProtein = XP_990011
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 73364120
    | Mm_GenLoc_end = 73381145
    | Mm_Uniprot = Q05A24
  }}
}}
'''Cholinergic receptor, nicotinic, alpha 1 (muscle)''', also known as '''CHRNA1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134| accessdate = }}</ref>


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| section_title =  
| summary_text = The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134| accessdate = }}</ref>
| summary_text = The muscle acetylcholine receptor consists of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.<ref name="entrez"/>
}}
}}
==Interactions==
Cholinergic receptor, nicotinic, alpha 1 has been shown to [[Protein-protein interaction|interact]] with [[CHRND]].<ref name=pmid7695910>{{cite journal |doi=10.1016/0896-6273(95)90320-8 |last=Kreienkamp |first=H J |author2=Maeda R K|author3=Sine S M|author4=Taylor P |date=March 1995  |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 = }}</ref><ref name=pmid8910344>{{cite journal |doi=10.1074/jbc.271.44.27575 |last=Wang |first=Z Z |author2=Hardy S F|author3=Hall Z W |date=November 1996  |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 = }}</ref>


==See also==
==See also==
Line 58: Line 15:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Bracci L, Lozzi L, Rustici M, Neri P |title=Binding of HIV-1 gp120 to the nicotinic receptor. |journal=FEBS Lett. |volume=311 |issue= 2 |pages= 115-8 |year= 1992 |pmid= 1397297 |doi=  }}
*{{cite journal  | vauthors=Bracci L, Lozzi L, Rustici M, Neri P |title=Binding of HIV-1 gp120 to the nicotinic receptor. |journal=FEBS Lett. |volume=311 |issue= 2 |pages= 115–8 |year= 1992 |pmid= 1397297 |doi=10.1016/0014-5793(92)81380-5 }}
*{{cite journal  | author=Beeson D, Morris A, Vincent A, Newsom-Davis J |title=The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. |journal=EMBO J. |volume=9 |issue= 7 |pages= 2101-6 |year= 1990 |pmid= 1694127 |doi=  }}
*{{cite journal  | vauthors=Beeson D, Morris A, Vincent A, Newsom-Davis J |title=The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. |journal=EMBO J. |volume=9 |issue= 7 |pages= 2101–6 |year= 1990 |pmid= 1694127 | pmc=551929 |doi=  }}
*{{cite journal  | author=Yu XM, Hall ZW |title=Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor. |journal=Nature |volume=352 |issue= 6330 |pages= 64-7 |year= 1991 |pmid= 1712080 |doi= 10.1038/352064a0 }}
*{{cite journal  | vauthors=Yu XM, Hall ZW |title=Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor. |journal=Nature |volume=352 |issue= 6330 |pages= 64–7 |year= 1991 |pmid= 1712080 |doi= 10.1038/352064a0 |bibcode=1991Natur.352...64Y }}
*{{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=  }}
*{{cite journal  | vauthors=Beeson D, Jeremiah S, West LF |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 |display-authors=etal}}
*{{cite journal  | author=Hohlfeld R, Toyka KV, Miner LL, ''et al.'' |title=Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis. |journal=J. Clin. Invest. |volume=81 |issue= 3 |pages= 657-60 |year= 1988 |pmid= 2449458 |doi=  }}
*{{cite journal  | vauthors=Hohlfeld R, Toyka KV, Miner LL |title=Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis. |journal=J. Clin. Invest. |volume=81 |issue= 3 |pages= 657–60 |year= 1988 |pmid= 2449458 | pmc=442511 |doi=10.1172/JCI113369 |display-authors=etal}}
*{{cite journal  | author=Schoepfer R, Luther M, Lindstrom J |title=The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. |journal=FEBS Lett. |volume=226 |issue= 2 |pages= 235-40 |year= 1988 |pmid= 3338555 |doi=  }}
*{{cite journal  | vauthors=Schoepfer R, Luther M, Lindstrom J |title=The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. |journal=FEBS Lett. |volume=226 |issue= 2 |pages= 235–40 |year= 1988 |pmid= 3338555 |doi=10.1016/0014-5793(88)81430-3 }}
*{{cite journal  | author=Oosterhuis HJ, Newsom-Davis J, Wokke JH, ''et al.'' |title=The slow channel syndrome. Two new cases. |journal=Brain |volume=110 ( Pt 4) |issue=  |pages= 1061-79 |year= 1987 |pmid= 3651795 |doi=  }}
*{{cite journal  | vauthors=Oosterhuis HJ, Newsom-Davis J, Wokke JH |title=The slow channel syndrome. Two new cases. |journal=Brain |volume=110 |issue=  4|pages= 1061–79 |year= 1987 |pmid= 3651795 |doi=  10.1093/brain/110.4.1061|display-authors=etal}}
*{{cite journal  | author=Noda M, Furutani Y, Takahashi H, ''et al.'' |title=Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. |journal=Nature |volume=305 |issue= 5937 |pages= 818-23 |year= 1983 |pmid= 6688857 |doi=  }}
*{{cite journal  | vauthors=Noda M, Furutani Y, Takahashi H |title=Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. |journal=Nature |volume=305 |issue= 5937 |pages= 818–23 |year= 1983 |pmid= 6688857 |doi=10.1038/305818a0 |display-authors=etal|bibcode=1983Natur.305..818N }}
*{{cite journal  | author=Vincent A, Cull-Candy SG, Newsom-Davis J, ''et al.'' |title=Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases. |journal=Muscle Nerve |volume=4 |issue= 4 |pages= 306-18 |year= 1981 |pmid= 7254233 |doi= 10.1002/mus.880040407 }}
*{{cite journal  | vauthors=Vincent A, Cull-Candy SG, Newsom-Davis J |title=Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases. |journal=Muscle Nerve |volume=4 |issue= 4 |pages= 306–18 |year= 1981 |pmid= 7254233 |doi= 10.1002/mus.880040407 |display-authors=etal}}
*{{cite journal  | author=Sine SM, Ohno K, Bouzat C, ''et al.'' |title=Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. |journal=Neuron |volume=15 |issue= 1 |pages= 229-39 |year= 1995 |pmid= 7619526 |doi=  }}
*{{cite journal  | vauthors=Sine SM, Ohno K, Bouzat C |title=Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. |journal=Neuron |volume=15 |issue= 1 |pages= 229–39 |year= 1995 |pmid= 7619526 |doi=10.1016/0896-6273(95)90080-2 |display-authors=etal}}
*{{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=  }}
*{{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  | author=Gattenlöhner S, Brabletz T, Schultz A, ''et al.'' |title=Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis. |journal=Thymus |volume=23 |issue= 2 |pages= 103-13 |year= 1995 |pmid= 7725386 |doi=  }}
*{{cite journal  | vauthors=Gattenlöhner S, Brabletz T, Schultz A |title=Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis. |journal=Thymus |volume=23 |issue= 2 |pages= 103–13 |year= 1995 |pmid= 7725386 |doi=  |display-authors=etal}}
*{{cite journal  | author=Chauplannaz G, Bady B |title=[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests] |journal=Rev. Neurol. (Paris) |volume=150 |issue= 2 |pages= 142-8 |year= 1995 |pmid= 7863154 |doi=  }}
*{{cite journal  | vauthors=Chauplannaz G, Bady B |title=[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests] |journal=Rev. Neurol. (Paris) |volume=150 |issue= 2 |pages= 142–8 |year= 1995 |pmid= 7863154 |doi=  }}
*{{cite journal  | author=Lobos EA |title=Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. |journal=Genomics |volume=17 |issue= 3 |pages= 642-50 |year= 1993 |pmid= 7902325 |doi= 10.1006/geno.1993.1384 }}
*{{cite journal  | author=Lobos EA |title=Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. |journal=Genomics |volume=17 |issue= 3 |pages= 642–50 |year= 1993 |pmid= 7902325 |doi= 10.1006/geno.1993.1384 }}
*{{cite journal  | author=Green WN, Claudio T |title=Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially. |journal=Cell |volume=74 |issue= 1 |pages= 57-69 |year= 1993 |pmid= 8334706 |doi=  }}
*{{cite journal  | vauthors=Green WN, Claudio T |title=Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially. |journal=Cell |volume=74 |issue= 1 |pages= 57–69 |year= 1993 |pmid= 8334706 |doi=10.1016/0092-8674(93)90294-Z }}
*{{cite journal  | author=Talib S, Okarma TB, Lebkowski JS |title=Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. |journal=Nucleic Acids Res. |volume=21 |issue= 2 |pages= 233-7 |year= 1993 |pmid= 8441631 |doi=  }}
*{{cite journal  | vauthors=Talib S, Okarma TB, Lebkowski JS |title=Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. |journal=Nucleic Acids Res. |volume=21 |issue= 2 |pages= 233–7 |year= 1993 |pmid= 8441631 | pmc=309097 |doi=10.1093/nar/21.2.233 }}
*{{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=  }}
*{{cite journal  | vauthors=Engel AG, Ohno K, Milone M |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 |display-authors=etal}}
*{{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=  }}
*{{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  | author=Croxen R, Newland C, Beeson D, ''et al.'' |title=Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 767-74 |year= 1997 |pmid= 9158151 |doi=  }}
*{{cite journal  | vauthors=Croxen R, Newland C, Beeson D |title=Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 767–74 |year= 1997 |pmid= 9158151 |doi=10.1093/hmg/6.5.767 |display-authors=etal}}
*{{cite journal  | author=Milone M, Wang HL, Ohno K, ''et al.'' |title=Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. |journal=J. Neurosci. |volume=17 |issue= 15 |pages= 5651-65 |year= 1997 |pmid= 9221765 |doi=  }}
*{{cite journal  | vauthors=Milone M, Wang HL, Ohno K |title=Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. |journal=J. Neurosci. |volume=17 |issue= 15 |pages= 5651–65 |year= 1997 |pmid= 9221765 |doi=  |display-authors=etal}}
}}
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* {{MeshName|CHRNA1+protein,+human}}
* {{MeshName|CHRNA1+protein,+human}}


{{membrane-protein-stub}}
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{{Ligand-gated ion channels}}
{{Ligand-gated ion channels}}
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[[Category:Ion channels]]
[[Category:Ion channels]]
{{WikiDoc Sources}}
[[Category:Nicotinic acetylcholine receptors]]
 
 
{{membrane-protein-stub}}

Latest revision as of 01:10, 23 June 2018

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External IDsGeneCards: [1]
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SpeciesHumanMouse
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Wikidata
View/Edit Human

Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene.[1] The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).

The muscle acetylcholine receptor consists of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.[1]

Interactions

Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.[2][3]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)".
  2. ↑ Kreienkamp, H J; Maeda R K; Sine S M; Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. UNITED STATES. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. ISSN 0896-6273. PMID 7695910.
  3. ↑ Wang, Z Z; Hardy S F; Hall Z W (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. UNITED STATES. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. ISSN 0021-9258. PMID 8910344.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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