SOD1

SOD1
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1AZV, 1BA9, 1DSW, 1FUN, 1HL4, 1HL5, 1KMG, 1L3N, 1MFM, 1N18, 1N19, 1OEZ, 1OZT, 1OZU, 1P1V, 1PTZ, 1PU0, 1RK7, 1SOS, 1SPD, 1UXL, 1UXM, 2AF2, 2C9S, 2C9U, 2C9V, 2GBT, 2GBU, 2GBV, 2LU5, 2MP3, 2NNX, 2R27, 2V0A, 2VR6, 2VR7, 2VR8, 2WKO, 2WYT, 2WYZ, 2WZ0, 2WZ5, 2WZ6, 2XJK, 2XJL, 2ZKW, 2ZKX, 2ZKY, 3CQP, 3CQQ, 3ECU, 3ECV, 3ECW, 3GQF, 3GTV, 3GZO, 3GZP, 3GZQ, 3H2P, 3H2Q, 3HFF, 3K91, 3KH3, 3KH4, 3LTV, 3QQD, 3RE0, 3T5W, 4A7G, 4A7Q, 4A7S, 4A7T, 4A7U, 4A7V, 4B3E, 4BCY, 4BCZ, 4BD4, 4FF9, 4MCM, 4MCN, 4NIN, 4NIP, 4OH2, 4XCR
معین‌کننده‌ها
نام‌های دیگر	SOD1, ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer, superoxide dismutase 1, soluble, superoxide dismutase 1, STAHP
شناسه‌های بیرونی	OMIM: 147450 MGI: 98351 HomoloGene: 392 GeneCards: SOD1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۶ (موش)
پایان	90,023,217 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• metal ion binding; • enzyme binding; • oxidoreductase activity; • superoxide dismutase activity; • protein homodimerization activity; • zinc ion binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • copper ion binding; • protein phosphatase 2B binding; • chaperone binding; • antioxidant activity; • identical protein binding; • superoxide dismutase copper chaperone activity;
ترکیبات سلولی	• سیتوپلاسم; • سیتوزول; • mitochondrial intermembrane space; • extracellular region; • میتوکندری; • neuron projection; • dendrite cytoplasm; • dense core granule; • هسته یاخته; • myelin sheath; • پراکسیتن; • کافنده‌تن; • extracellular exosome; • GO:0005578 بافت‌مانه برون‌یاخته‌ای; • پوسته یاخته; • secretory granule; • نوکلئوپلاسم; • neuronal cell body; • mitochondrial matrix; • GO:0016023 cytoplasmic vesicle; • axon cytoplasm; • extracellular space; • GO:0009327 protein-containing complex;
فرایند زیستی	• GO:1904089 negative regulation of neuron apoptotic process; • muscle cell cellular homeostasis; • response to copper ion; • جفتگری; • response to amphetamine; • GO:0048554 positive regulation of catalytic activity; • response to heat; • response to organic substance; • anterograde axonal transport; • اسپرماتوژنز; • response to ethanol; • neurofilament cytoskeleton organization; • heart contraction; • embryo implantation; • locomotory behavior; • thymus development; • removal of superoxide radicals; • GO:0043087، GO:0032313، GO:0032319، GO:0032314، GO:0043088 regulation of GTPase activity; • transmission of nerve impulse; • GO:1904576 response to antibiotic; • myeloid cell homeostasis; • GO:0001306 پاسخ به استرس اکسیداتیو; • reactive oxygen species metabolic process; • regulation of T cell differentiation in thymus; • retina homeostasis; • response to nutrient levels; • hydrogen peroxide biosynthetic process; • regulation of protein kinase activity; • negative regulation of cholesterol biosynthetic process; • cellular response to potassium ion; • retrograde axonal transport; • glutathione metabolic process; • response to antipsychotic drug; • negative regulation of apoptotic process; • cellular response to cadmium ion; • response to carbon monoxide; • regulation of blood pressure; • response to axon injury; • relaxation of vascular associated smooth muscle; • ovarian follicle development; • cellular response to ATP; • response to hydrogen peroxide; • superoxide metabolic process; • peripheral nervous system myelin maintenance; • response to superoxide; • GO:0032737 positive regulation of cytokine production; • regulation of multicellular organism growth; • GO:0010260 پیرش; • platelet degranulation; • sensory perception of sound; • superoxide anion generation; • auditory receptor cell stereocilium organization; • regulation of mitochondrial membrane potential; • positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; • positive regulation of apoptotic process; • positive regulation of superoxide anion generation; • regulation of organ growth; • cellular iron ion homeostasis; • GO:0001315 response to reactive oxygen species; • cellular response to oxidative stress; • interleukin-12-mediated signaling pathway; • negative regulation of inflammatory response; • positive regulation of phagocytosis;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6647
	20655
	ENSG00000142168
	ENSMUSG00000022982
	P00441
	P08228
	NM_000454
	NM_011434
	NP_000445
	NP_035564
	مشاهده/ویرایش موش

سوپراکسید دیسموتاز ۱ (انگلیسی: SOD1) یک آنزیم است که در انسان توسط ژن «SOD1» (بر روی کروموزوم ۲۱) کدگذاری می‌شود. SOD1 یکی از انواع سه‌گانهٔ سوپراکسید دیسموتاز است.

اهمیت این آنزیم در آن است که در آپوپتوز و در بروز بیماری اسکلروز جانبی آمیوتروفیک (ALS) (انواع ارثی یا تک‌گیر آن) نقش دارد.

منابع

↑ GRCm38: Ensembl release 89: ENSMUSG00000022982 - 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.
↑ Milani P, Gagliardi S, Cova E, Cereda C (2011). "SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS". Neurology Research International. 2011: 458427. doi:10.1155/2011/458427. PMC 3096450. PMID 21603028.
↑ Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX (March 1993). "Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis". Nature. 362 (6415): 59–62. Bibcode:1993Natur.362...59R. doi:10.1038/362059a0. PMID 8446170.
↑ Conwit RA (December 2006). "Preventing familial ALS: a clinical trial may be feasible but is an efficacy trial warranted?". Journal of the Neurological Sciences. 251 (1–2): 1–2. doi:10.1016/j.jns.2006.07.009. PMID 17070848.
↑ Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Current Opinion in Neurology. 13 (4): 397–405. doi:10.1097/00019052-200008000-00006. PMID 10970056.
↑ Redler RL, Dokholyan NV (2012-01-01). "The complex molecular biology of amyotrophic lateral sclerosis (ALS)". Progress in Molecular Biology and Translational Science. Progress in Molecular Biology and Translational Science. 107: 215–62. doi:10.1016/B978-0-12-385883-2.00002-3. ISBN 9780123858832. PMC 3605887. PMID 22482452.
↑ Gagliardi S, Cova E, Davin A, Guareschi S, Abel K, Alvisi E, Laforenza U, Ghidoni R, Cashman JR, Ceroni M, Cereda C (August 2010). "SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis". Neurobiology of Disease. 39 (2): 198–203. doi:10.1016/j.nbd.2010.04.008. PMID 20399857.

بیشتر بخوانید

de Belleroche J, Orrell R, King A (November 1995). "Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments". Journal of Medical Genetics. 32 (11): 841–7. doi:10.1136/jmg.32.11.841. PMC 1051731. PMID 8592323.
Ceroni M, Curti D, Alimonti D (2002). "Amyotrophic lateral sclerosis and SOD1 gene: an overview". Functional Neurology. 16 (4 Suppl): 171–80. PMID 11996514.
Zelko IN, Mariani TJ, Folz RJ (August 2002). "Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression". Free Radical Biology & Medicine. 33 (3): 337–49. doi:10.1016/S0891-5849(02)00905-X. PMID 12126755.
Hadano S (June 2002). "[Causative genes for familial amyotrophic lateral sclerosis]". Seikagaku. the Journal of Japanese Biochemical Society. 74 (6): 483–9. PMID 12138710.
Noor R, Mittal S, Iqbal J (September 2002). "Superoxide dismutase--applications and relevance to human diseases". Medical Science Monitor. 8 (9): RA210–5. PMID 12218958.
Potter SZ, Valentine JS (April 2003). "The perplexing role of copper-zinc superoxide dismutase in amyotrophic lateral sclerosis (Lou Gehrig's disease)". Journal of Biological Inorganic Chemistry. 8 (4): 373–80. doi:10.1007/s00775-003-0447-6 (inactive 2017-01-24). PMID 12644909.
Rotilio G, Aquilano K, Ciriolo MR (2004). "Interplay of Cu,Zn superoxide dismutase and nitric oxide synthase in neurodegenerative processes". IUBMB Life. 55 (10–11): 629–34. doi:10.1080/15216540310001628717. PMID 14711010.
Jafari-Schluep HF, Khoris J, Mayeux-Portas V, Hand C, Rouleau G, Camu W (January 2004). "[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature]". Revue Neurologique. 160 (1): 44–50. PMID 14978393.
Faraci FM, Didion SP (August 2004). "Vascular protection: superoxide dismutase isoforms in the vessel wall". Arteriosclerosis, Thrombosis, and Vascular Biology. 24 (8): 1367–73. doi:10.1161/01.ATV.0000133604.20182.cf. PMID 15166009.
Gagliardi S, Ogliari P, Davin A, Corato M, Cova E, Abel K, Cashman JR, Ceroni M, Cereda C (August 2011). "Flavin-containing monooxygenase mRNA levels are up-regulated in als brain areas in SOD1-mutant mice". Neurotoxicity Research. 20 (2): 150–8. doi:10.1007/s12640-010-9230-y. PMID 21082301.
Battistini S, Ricci C, Lotti EM, Benigni M, Gagliardi S, Zucco R, Bondavalli M, Marcello N, Ceroni M, Cereda C (June 2010). "Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene". Journal of the Neurological Sciences. 293 (1–2): 112–5. doi:10.1016/j.jns.2010.03.009. PMID 20385392.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000022982 - Ensembl, May 2017

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

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

[pmid21603028-4] Milani P, Gagliardi S, Cova E, Cereda C (2011). "SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS". Neurology Research International. 2011: 458427. doi:10.1155/2011/458427. PMC 3096450. PMID 21603028.

[pmid8446170-5] Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX (March 1993). "Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis". Nature. 362 (6415): 59–62. Bibcode:1993Natur.362...59R. doi:10.1038/362059a0. PMID 8446170.

[pmid17070848-6] Conwit RA (December 2006). "Preventing familial ALS: a clinical trial may be feasible but is an efficacy trial warranted?". Journal of the Neurological Sciences. 251 (1–2): 1–2. doi:10.1016/j.jns.2006.07.009. PMID 17070848.

[pmid10970056-7] Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Current Opinion in Neurology. 13 (4): 397–405. doi:10.1097/00019052-200008000-00006. PMID 10970056.

[ReferenceB-8] Redler RL, Dokholyan NV (2012-01-01). "The complex molecular biology of amyotrophic lateral sclerosis (ALS)". Progress in Molecular Biology and Translational Science. Progress in Molecular Biology and Translational Science. 107: 215–62. doi:10.1016/B978-0-12-385883-2.00002-3. ISBN 9780123858832. PMC 3605887. PMID 22482452.

[pmid20399857-9] Gagliardi S, Cova E, Davin A, Guareschi S, Abel K, Alvisi E, Laforenza U, Ghidoni R, Cashman JR, Ceroni M, Cereda C (August 2010). "SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis". Neurobiology of Disease. 39 (2): 198–203. doi:10.1016/j.nbd.2010.04.008. PMID 20399857.