CHRNA1

CHRNA1
Uygun yapılar
PDB	Ortolog araması: PDBe RCSB
PDB kimlik kodlarının listesi
	4ZJS
Tanımlayıcılar
Başka adlar	CHRNA1
Dış kimlikler	OMIM: 100690 MGI: 87885 HomoloGene: 59 GeneCards: CHRNA1
Gen yerleşimi (İnsan)
Krom.	2. Kromozom (insan)
Bitiş	174,787,935 bç
RNA ekspresyonu deseni
	Daha çok ekspresyon verisi başvurusu
Gen ontolojisi
Moleküler işlevi	• 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;
Hücresel bileşeni	• integral component of membrane; • membrane; • Sinaps; • Hücre bağlantıları; • Hücre zarı; • neuromuscular junction; • cell surface; • postsynaptic membrane; • acetylcholine-gated channel complex; • integral component of postsynaptic specialization membrane; • integral component of plasma membrane; • neuron projection;
Biyolojik süreci	• 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; • GO:0072468 Sinyal transdüksiyonu; • neuronal action potential; • regulation of postsynaptic membrane potential; • excitatory postsynaptic potential; • ion transmembrane transport; • chemical synaptic transmission; • sinir sistemi süreci;
	Kaynaklar:Amigo / QuickGO
Ortologlar
	1134
	11435
	ENSG00000138435
	ENSMUSG00000027107
	P02708
	P04756
	NM_001039523; NM_000079
	NM_007389
	NP_000070; NP_001034612
	NP_031415
	Vikiveri
İnsan'ı Gör/Düzenle	Fare'yi Gör/Düzenle

Nöronal asetilkolin reseptör alfa-1 altbirimi, aynı zamanda nAChRα1 olarak da bilinen, insanlarda CHRNA1 geni tarafından kodlanan bir proteindir.^[4] Bu gen tarafından kodlanan protein, bazı nikotinik asetilkolin reseptörlerinin (nAchR) bir altbirimidir.

Kas asetilkolin reseptörü, 4 farklı tipte 5 altbirimden oluşur: 2 alfa izoformu ve her biri beta, gama ve delta altbirimlerinden oluşur. Bu gen, asetilkolinin bağlanmasında/kanal kapısında rol oynayan bir alfa altbirimi kodlar. Alternatif olarak uçbirleştirilmiş farklı izoformları kodlayan transkript türevleri tanımlanmıştır.^[4]

Etkileşimler

Nikotinik kolinerjik reseptör alfa 1'in CHRND ile etkileşime girdiği gösterilmiştir.^[5]^[6]

Ayrıca bakınız

Nikotinik asetilkolin reseptörü

Kaynakça

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138435 - Ensembl, May 2017
^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)". 5 Aralık 2010 tarihinde kaynağından arşivlendi.
^ "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3). Mart 1995. ss. 635-44.
^ "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). Kasım 1996. ss. 27575-84.

Konuyla ilgili yayınlar

"Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Letters. 311 (2). Ekim 1992. ss. 115-8.
"The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon". The EMBO Journal. 9 (7). Temmuz 1990. ss. 2101-6.
"Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor". Nature. 352 (6330). Temmuz 1991. ss. 64-7.
"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). Temmuz 1990. ss. 199-208.
"Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis". The Journal of Clinical Investigation. 81 (3). Mart 1988. ss. 657-60.
"The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA". FEBS Letters. 226 (2). Ocak 1988. ss. 235-40.
"The slow channel syndrome. Two new cases". Brain. 110 (Pt 4) (4). Ağustos 1987. ss. 1061-79.
"Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor". Nature. 305 (5937). 1983. ss. 818-23.
"Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases". Muscle & Nerve. 4 (4). 1981. ss. 306-18.
"Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity". Neuron. 15 (1). Temmuz 1995. ss. 229-39.
"Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3). Mart 1995. ss. 635-44.
"Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis". Thymus. 23 (2). 1995. ss. 103-13.
"[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Revue Neurologique. 150 (2). 1995. ss. 142-8.
"Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17". Genomics. 17 (3). Eylül 1993. ss. 642-50.
"Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially". Cell. 74 (1). Temmuz 1993. ss. 57-69.
"Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues". Nucleic Acids Research. 21 (2). Ocak 1993. ss. 233-7.
"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Human Molecular Genetics. 5 (9). Eylül 1996. ss. 1217-27.
"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). Kasım 1996. ss. 27575-84.
"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). Mayıs 1997. ss. 767-74.
"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). Ağustos 1997. ss. 5651-65.

Dış bağlantılar

Medical Subject Headings CHRNA1+protein,+human

Bu madde, kamu malı olan Birleşik Devletler Ulusal Tıp Kütüphanesi'nden yazılar içermektedir.

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

[2] "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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

[entrez-4] "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)". 5 Aralık 2010 tarihinde kaynağından arşivlendi.

[pmid7695910-5] "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3). Mart 1995. ss. 635-44.

[pmid8910344-6] "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). Kasım 1996. ss. 27575-84.

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