CHRNA7
From Wikipedia, the free encyclopedia
Cholinergic receptor, nicotinic, alpha 7
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Identifiers | ||
Symbol(s) | CHRNA7; NACHRA7 | |
External IDs | OMIM: 118511 MGI: 99779 HomoloGene: 593 | |
Orthologs | ||
Human | Mouse | |
Entrez | 1139 | 11441 |
Ensembl | n/a | ENSMUSG00000030525 |
Uniprot | n/a | Q53YJ9 |
Refseq | XM_001127577 (mRNA) XP_001127577 (protein) |
NM_007390 (mRNA) NP_031416 (protein) |
Location | n/a | Chr 7: 62.98 - 63.09 Mb |
Pubmed search | [1] | [2] |
Cholinergic receptor, nicotinic, alpha 7, also known as CHRNA7, is a human gene.
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene.[1]
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[edit] See also
[edit] See also
[edit] References
[edit] Further reading
- Green WN, Millar NS (1995). "Ion-channel assembly.". Trends Neurosci. 18 (6): 280–7. PMID 7571003.
- Hogg RC, Raggenbass M, Bertrand D (2003). "Nicotinic acetylcholine receptors: from structure to brain function.". Rev. Physiol. Biochem. Pharmacol. 147: 1–46. doi: . PMID 12783266.
- Gallowitsch-Puerta M, Tracey KJ (2006). "Immunologic role of the cholinergic anti-inflammatory pathway and the nicotinic acetylcholine alpha 7 receptor.". Ann. N. Y. Acad. Sci. 1062: 209–19. doi: . PMID 16461803.
- Peng X, Katz M, Gerzanich V, et al. (1994). "Human alpha 7 acetylcholine receptor: cloning of the alpha 7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha 7 homomers expressed in Xenopus oocytes.". Mol. Pharmacol. 45 (3): 546–54. PMID 8145738.
- Chini B, Raimond E, Elgoyhen AB, et al. (1994). "Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).". Genomics 19 (2): 379–81. doi: . PMID 8188270.
- Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. PMID 8889549.
- Elliott KJ, Ellis SB, Berckhan KJ, et al. (1997). "Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.". J. Mol. Neurosci. 7 (3): 217–28. PMID 8906617.
- Chavez-Noriega LE, Crona JH, Washburn MS, et al. (1997). "Pharmacological characterization of recombinant human neuronal nicotinic acetylcholine receptors h alpha 2 beta 2, h alpha 2 beta 4, h alpha 3 beta 2, h alpha 3 beta 4, h alpha 4 beta 2, h alpha 4 beta 4 and h alpha 7 expressed in Xenopus oocytes.". J. Pharmacol. Exp. Ther. 280 (1): 346–56. PMID 8996215.
- Groot Kormelink PJ, Luyten WH (1997). "Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.". FEBS Lett. 400 (3): 309–14. PMID 9009220.
- Navaneetham D, Penn A, Howard J, Conti-Fine BM (1997). "Expression of the alpha 7 subunit of the nicotinic acetylcholine receptor in normal and myasthenic human thymuses.". Cell. Mol. Biol. (Noisy-le-grand) 43 (3): 433–42. PMID 9193799.
- Gault J, Robinson M, Berger R, et al. (1998). "Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).". Genomics 52 (2): 173–85. doi: . PMID 9782083.
- Curtis L, Blouin JL, Radhakrishna U, et al. (1999). "No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.". Am. J. Med. Genet. 88 (2): 109–12. PMID 10206225.
- Sander T, Schulz H, Vieira-Saeker AM, et al. (1999). "Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.". Am. J. Med. Genet. 88 (2): 182–7. PMID 10206240.
- Sato KZ, Fujii T, Watanabe Y, et al. (1999). "Diversity of mRNA expression for muscarinic acetylcholine receptor subtypes and neuronal nicotinic acetylcholine receptor subunits in human mononuclear leukocytes and leukemic cell lines.". Neurosci. Lett. 266 (1): 17–20. PMID 10336173.
- Wang HY, Lee DH, D'Andrea MR, et al. (2000). "beta-Amyloid(1-42) binds to alpha7 nicotinic acetylcholine receptor with high affinity. Implications for Alzheimer's disease pathology.". J. Biol. Chem. 275 (8): 5626–32. PMID 10681545.
- Schuller HM, Jull BA, Sheppard BJ, Plummer HK (2000). "Interaction of tobacco-specific toxicants with the neuronal alpha(7) nicotinic acetylcholine receptor and its associated mitogenic signal transduction pathway: potential role in lung carcinogenesis and pediatric lung disorders.". Eur. J. Pharmacol. 393 (1-3): 265–77. PMID 10771023.
- Kihara T, Shimohama S, Sawada H, et al. (2001). "alpha 7 nicotinic receptor transduces signals to phosphatidylinositol 3-kinase to block A beta-amyloid-induced neurotoxicity.". J. Biol. Chem. 276 (17): 13541–6. doi: . PMID 11278378.
- Freedman R, Leonard S, Gault JM, et al. (2001). "Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7).". Am. J. Med. Genet. 105 (1): 20–2. PMID 11424985.
- Engidawork E, Gulesserian T, Balic N, et al. (2002). "Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease.". J. Neural Transm. Suppl. (61): 211–22. PMID 11771745.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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