CHRNA1

CHRNA1
Identifiers
Aliases	CHRNA1, ACHRA, ACHRD, CHRNA, CMS2A, FCCMS, SCCMS, CMS1A, CMS1B, Cholinergic receptor, nicotinic, alpha 1, cholinergic receptor nicotinic alpha 1 subunit
External IDs	OMIM: 100690; MGI: 87885; GeneCards: CHRNA1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4ZJS
Gene location (Human)
Chr.	Chromosome 2 (human)
End	174,787,935 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	73,410,682 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; glutes; ; tibialis anterior muscle; ; deltoid muscle; ; muscle of thigh; ; testicle; ; triceps brachii muscle; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; Skeletal muscle tissue of biceps brachii;
	Top expressed in
	ankle; ; extraocular muscle; ; ankle joint; ; internal carotid artery; ; soleus muscle; ; vastus lateralis muscle; ; temporal muscle; ; triceps brachii muscle; ; thoracic diaphragm; ; sternocleidomastoid muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	extracellular ligand-gated ion channel activity; acetylcholine receptor activity; ligand-gated ion channel activity; ion channel activity; acetylcholine binding; acetylcholine-gated cation-selective channel activity; transmembrane signaling receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;
Cellular component	integral component of membrane; membrane; synapse; cell junction; plasma membrane; neuromuscular junction; cell surface; postsynaptic membrane; acetylcholine-gated channel complex; integral component of postsynaptic specialization membrane; integral component of plasma membrane; neuron projection;
Biological process	muscle cell cellular homeostasis; neuron cellular homeostasis; 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; neuromuscular junction development; musculoskeletal movement; signal transduction; neuronal action potential; regulation of postsynaptic membrane potential; excitatory postsynaptic potential; ion transmembrane transport; chemical synaptic transmission; nervous system process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	1134
	11435
	ENSG00000138435
	ENSMUSG00000027107
	P02708
	P04756
	NM_001039523; NM_000079
	NM_007389
	NP_000070; NP_001034612
	NP_031415
	Wikidata
View/Edit Human	View/Edit Mouse

Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene. 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, delta and epsilon subunits. The gamma sub-unit being only present in embryonic nAChR. This gene encodes an alpha subunit that plays a role in acetylcholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.

Interactions

Neuronal acetylcholine receptor subunit alpha-1 has been shown to interact with CHRND.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000138435 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027107 – 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.
1 2 "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)".
↑ Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. (August 2006). "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome". American Journal of Human Genetics. 79 (2): 390–395. doi:10.1086/506256. PMC 1559492. PMID 16826531.
↑ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. 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". The Journal of Biological Chemistry. 271 (44): 27575–27584. doi:10.1074/jbc.271.44.27575. PMID 8910344.

Bracci L, Lozzi L, Rustici M, Neri P (October 1992). "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Letters. 311 (2): 115–118. Bibcode:1992FEBSL.311..115B. doi:10.1016/0014-5793(92)81380-5. PMID 1397297. S2CID 22571925.
Beeson D, Morris A, Vincent A, Newsom-Davis J (July 1990). "The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon". The EMBO Journal. 9 (7): 2101–2106. doi:10.1002/j.1460-2075.1990.tb07378.x. PMC 551929. PMID 1694127.
Yu XM, Hall ZW (July 1991). "Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor". Nature. 352 (6330): 64–67. Bibcode:1991Natur.352...64Y. doi:10.1038/352064a0. PMID 1712080. S2CID 4245374.
Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (July 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". Annals of Human Genetics. 54 (3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
Hohlfeld R, Toyka KV, Miner LL, Walgrave SL, Conti-Tronconi BM (March 1988). "Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis". The Journal of Clinical Investigation. 81 (3): 657–660. doi:10.1172/JCI113369. PMC 442511. PMID 2449458.
Schoepfer R, Luther M, Lindstrom J (January 1988). "The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA". FEBS Letters. 226 (2): 235–240. Bibcode:1988FEBSL.226..235S. doi:10.1016/0014-5793(88)81430-3. PMID 3338555. S2CID 32444215.
Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, et al. (August 1987). "The slow channel syndrome. Two new cases". Brain. 110 (Pt 4): 1061–1079. doi:10.1093/brain/110.4.1061. PMID 3651795.
Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, et al. (1983). "Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor". Nature. 305 (5937): 818–823. Bibcode:1983Natur.305..818N. doi:10.1038/305818a0. PMID 6688857. S2CID 4356354.
Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL (1981). "Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases". Muscle & Nerve. 4 (4): 306–318. doi:10.1002/mus.880040407. PMID 7254233. S2CID 31016642.
Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, et al. (July 1995). "Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity". Neuron. 15 (1): 229–239. doi:10.1016/0896-6273(95)90080-2. PMID 7619526. S2CID 1959504.
Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
Gattenlöhner S, Brabletz T, Schultz A, Marx A, Müller-Hermelink HK, Kirchner T (1995). "Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis". Thymus. 23 (2): 103–113. PMID 7725386.
Chauplannaz G, Bady B (1995). "[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Revue Neurologique. 150 (2): 142–148. PMID 7863154.
Lobos EA (September 1993). "Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17". Genomics. 17 (3): 642–650. doi:10.1006/geno.1993.1384. PMID 7902325.
Green WN, Claudio T (July 1993). "Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially". Cell. 74 (1): 57–69. doi:10.1016/0092-8674(93)90294-Z. PMID 8334706. S2CID 41385871.
Talib S, Okarma TB, Lebkowski JS (January 1993). "Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues". Nucleic Acids Research. 21 (2): 233–237. doi:10.1093/nar/21.2.233. PMC 309097. PMID 8441631.
Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, et al. (September 1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Human Molecular Genetics. 5 (9): 1217–1227. doi:10.1093/hmg/5.9.1217. PMID 8872460.
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". The Journal of Biological Chemistry. 271 (44): 27575–27584. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, et al. (May 1997). "Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome". Human Molecular Genetics. 6 (5): 767–774. doi:10.1093/hmg/6.5.767. PMID 9158151.
Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, et al. (August 1997). "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". The Journal of Neuroscience. 17 (15): 5651–5665. doi:10.1523/JNEUROSCI.17-15-05651.1997. PMC 6573201. PMID 9221765.

External links

CHRNA1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000138435 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027107 – 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] 1 2 "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)".

[6] Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. (August 2006). "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome". American Journal of Human Genetics. 79 (2): 390–395. doi:10.1086/506256. PMC 1559492. PMID 16826531.

[pmid7695910-7] Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.

[pmid8910344-8] 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". The Journal of Biological Chemistry. 271 (44): 27575–27584. doi:10.1074/jbc.271.44.27575. PMID 8910344.

CHRNA1

Interactions

See also

References

Further reading

External links