CHRNA7

CHRNA7
Available structures PDB Ortholog search:PDBeRCSB List of PDB id codes 5AFK,5AFJ,5AFL,2MAW,5AFN,5AFM,5AFH
Identifiers
Aliases	CHRNA7,CHRNA7-2, NACHRA7, cholinergic receptor nicotinic alpha 7 subunit
External IDs	OMIM:118511;MGI:99779;HomoloGene:593;GeneCards:CHRNA7;OMA:CHRNA7 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q13.3 Start 31,923,438bp End 32,173,018bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 C|7 34.47 cM Start 62,748,440bp End 62,862,317bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in testicle oocyte secondary oocyte ganglionic eminence gonad ventricular zone jejunal mucosa retinal pigment epithelium mucosa of ileum prefrontal cortex Top expressed in trigeminal nerve dentate gyrus of hippocampal formation granule cell lumbar spinal ganglion primary visual cortex tail of embryo autonomic nervous system superior frontal gyrus sympathetic ganglion paravertebral ganglia tongue More reference expression data BioGPS n/a
Gene ontology Molecular function protein homodimerization activity acetylcholine binding acetylcholine-gated cation-selective channel activity amyloid-beta binding acetylcholine receptor activity ion channel activity chloride channel regulator activity extracellular ligand-gated ion channel activity toxic substance binding ligand-gated ion channel activity transmembrane signaling receptor activity calcium channel activity protein binding Cellular component integral component of membrane acetylcholine-gated channel complex postsynaptic membrane membrane plasma membrane synapse cell junction integral component of plasma membrane neuron projection plasma membrane raft postsynapse Biological process response to hypoxia cognition cellular calcium ion homeostasis ion transport positive regulation of angiogenesis ion transmembrane transport positive regulation of cell population proliferation transport calcium ion transport signal transduction synaptic transmission, cholinergic memory negative regulation of tumor necrosis factor production response to nicotine regulation of postsynaptic membrane potential excitatory postsynaptic potential positive regulation of protein phosphorylation chemical synaptic transmission learning or memory short-term memory regulation of membrane potential synapse organization nervous system process sensory processing positive regulation of ERK1 and ERK2 cascade calcium ion transmembrane transport acetylcholine receptor signaling pathway dendritic spine organization modulation of excitatory postsynaptic potential dendrite arborization positive regulation of long-term synaptic potentiation regulation of neuron death positive regulation of amyloid-beta formation negative regulation of amyloid-beta formation regulation of amyloid precursor protein catabolic process response to amyloid-beta response to acetylcholine regulation of amyloid fibril formation positive regulation of CoA-transferase activity positive regulation of excitatory postsynaptic potential Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 1139 11441 Ensembl ENSG00000274542 ENSG00000175344 ENSG00000282088 ENSMUSG00000030525 UniProt P36544 P49582 RefSeq (mRNA) NM_000746 NM_001190455 NM_007390 RefSeq (protein) NP_000737 NP_001177384 NP_031416 Location (UCSC) Chr 15: 31.92 – 32.17 Mb Chr 7: 62.75 – 62.86 Mb PubMedsearch
Wikidata
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Neuronal acetylcholine receptor subunit alpha-7,also known asnAChRα7,is aproteinthat in humans is encoded by theCHRNA7gene.The protein encoded by this gene is a subunit of certainnicotinic acetylcholine receptors(nAchR).

Function

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily ofligand-gated ion channelsthat 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 conservedN-terminalextracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a shortC-terminalextracellular region. The protein encoded by this gene forms ahomo-oligomericchannel, 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 bindsacetylcholine,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 juvenilemyoclonic epilepsyand a chromosomal location involved in the genetic transmission ofschizophrenia.An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene.

Disruption of alpha-7 nicotinic receptors in schizophrenia is believed to contribute at least in part to the abnormally high prevalence of extremely heavy smoking in those affected by the disease. This observed particularly high nicotine intake compared to the average smoker is hypothesized to be a subconscious effort to activate the low-affinity alpha-7 receptors.

Interactions

CHRNA7 has been shown tointeractwithFYN.

Gene expression

The CHRNA7 gene is primarily expressed in the posterioramygdalarnucleus and the fieldCA3ofAmmon's hornin the mouse, and in themammillary bodyin humans. Gene expression patterns from theAllen Brain Atlasescan be seenhere.

See also

• Alpha-7 nicotinic receptor
• Nicotinic acetylcholine receptor
• Acetylcholine receptor

Further reading

• Green WN, Millar NS (1995). "Ion-channel assembly".Trends Neurosci.18(6): 280–287.doi:10.1016/0166-2236(95)93915-K.PMID7571003.
• Hogg RC, Raggenbass M, Bertrand D (2003). "Nicotinic acetylcholine receptors: from structure to brain function".Rev. Physiol. Biochem. Pharmacol.Reviews of Physiology, Biochemistry and Pharmacology.147:1–46.doi:10.1007/s10254-003-0005-1.ISBN978-3-540-01365-5.PMID12783266.
• Gallowitsch-Puerta M, Tracey KJ (2005). "Immunologic role of the cholinergic anti-inflammatory pathway and the nicotinic acetylcholine alpha 7 receptor".Ann. N. Y. Acad. Sci.1062(1): 209–219.Bibcode:2005NYASA1062..209G.doi:10.1196/annals.1358.024.PMID16461803.S2CID22980405.
• Peng X, Katz M, Gerzanich V, Anand R, Lindstrom J (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): 546–554.PMID8145738.
• Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (1996)."Generation and analysis of 280,000 human expressed sequence tags".Genome Res.6(9): 807–828.doi:10.1101/gr.6.9.807.PMID8889549.
• Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE, Johnson EC, Veliçelebi G, Harpold MM (1996). "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): 217–228.doi:10.1007/BF02736842.PMID8906617.S2CID45737923.
• Chavez-Noriega LE, Crona JH, Washburn MS, Urrutia A, Elliott KJ, Johnson EC (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): 346–356.PMID8996215.
• 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): 309–314.doi:10.1016/S0014-5793(96)01383-X.PMID9009220.
• 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): 433–442.PMID9193799.
• Gault J, Robinson M, Berger R, Drebing C, Logel J, Hopkins J, Moore T, Jacobs S, Meriwether J, Choi MJ, Kim EJ, Walton K, Buiting K, Davis A, Breese C, Freedman R, Leonard S (1998). "Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)".Genomics.52(2): 173–185.doi:10.1006/geno.1998.5363.PMID9782083.
• Curtis L, Blouin JL, Radhakrishna U, Gehrig C, Lasseter VK, Wolyniec P, Nestadt G, Dombroski B, Kazazian HH, Pulver AE, Housman D, Bertrand D, Antonarakis SE (1999). "No evidence for linkage between schizophrenia and markers at chromosome 15q13–14".Am. J. Med. Genet.88(2): 109–112.doi:10.1002/(SICI)1096-8628(19990416)88:2<109::AID-AJMG1>3.0.CO;2-3.PMID10206225.
• Sander T, Schulz H, Vieira-Saeker AM, Bianchi A, Sailer U, Bauer G, Scaramelli A, Wienker TF, Saar K, Reis A, Janz D, Epplen JT, Riess O (1999). "Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14".Am. J. Med. Genet.88(2): 182–187.doi:10.1002/(SICI)1096-8628(19990416)88:2<182::AID-AJMG16>3.0.CO;2-Z.PMID10206240.
• Sato KZ, Fujii T, Watanabe Y, Yamada S, Ando T, Kazuko F, Kawashima K (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.doi:10.1016/S0304-3940(99)00259-1.PMID10336173.S2CID43548155.
• Wang HY, Lee DH, D'Andrea MR, Peterson PA, Shank RP, Reitz AB (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): 5626–5632.doi:10.1074/jbc.275.8.5626.PMID10681545.
• 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): 265–277.doi:10.1016/S0014-2999(00)00094-7.PMID10771023.
• Kihara T, Shimohama S, Sawada H, Honda K, Nakamizo T, Shibasaki H, Kume T, Akaike A (2001)."alpha 7 nicotinic receptor transduces signals to phosphatidylinositol 3-kinase to block A beta-amyloid-induced neurotoxicity".J. Biol. Chem.276(17): 13541–13546.doi:10.1074/jbc.M008035200.PMID11278378.
• Freedman R, Leonard S, Gault JM, Hopkins J, Cloninger CR, Kaufmann CA, Tsuang MT, Farone SV, Malaspina D, Svrakic DM, Sanders A, Gejman P (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): 20–22.doi:10.1002/1096-8628(20010108)105:1<20::AID-AJMG1047>3.0.CO;2-C.PMID11424985.S2CID37412240.
• Engidawork E, Gulesserian T, Balic N, Cairns N, Lubec G (2001). "Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease". In Lubec G (ed.).Protein Expression in Down Syndrome Brain.Journal of Neural Transmission. Supplementum. pp. 211–222.doi:10.1007/978-3-7091-6262-0_17.ISBN978-3-211-83704-7.PMID11771745.

External links

• CHRNA7+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
• HumanCHRNA7genome location andCHRNA7gene details page in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.