اکتینین آلفا ۳

ACTN3
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1TJT, 1WKU, 3LUE
معین‌کننده‌ها
نام‌های دیگر	ACTN3, actinin alpha 3 (gene/pseudogene), ACTN3D, actinin alpha 3
شناسه‌های بیرونی	OMIM: 102574 MGI: 99678 GeneCards: ACTN3
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۹ (موش)
پایان	4,927,937 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• calcium ion binding; • protein homodimerization activity; • transmembrane transporter binding; • metal ion binding; • integrin binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • actin binding; • structural constituent of muscle;
ترکیبات سلولی	• سیتوزول; • پای کاذب; • focal adhesion; • intracellular anatomical structure; • ریزرشته; • extracellular exosome;
فرایند زیستی	• regulation of apoptotic process; • regulation of aerobic respiration; • negative regulation of glycolytic process; • negative regulation of calcineurin-NFAT signaling cascade; • transition between fast and slow fiber; • positive regulation of glucose catabolic process to lactate via pyruvate; • focal adhesion assembly; • muscle filament sliding; • skeletal muscle atrophy; • response to denervation involved in regulation of muscle adaptation; • negative regulation of oxidative phosphorylation; • positive regulation of skeletal muscle tissue growth; • regulation of the force of skeletal muscle contraction; • negative regulation of cold-induced thermogenesis;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	89
	11474
	ENSG00000248746
	ENSMUSG00000006457
	Q08043
	O88990
	NM_001104، NM_001258371 NR_047663، NM_001104، NM_001258371
	NM_013456
	NP_001245300 NP_001095، NP_001245300
	NP_038484
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

اکتینین آلفا ۳ (انگلیسی: Actinin alpha 3) یک پروتئین است که در انسان توسط ژن «ACTN3» کُدگذاری می‌شود.^[۴]^[۵]

این پروتئین نوعی اکتین است که چندین نقش مهم ایفا می‌کند و بیان آن محدود به ماهیچه‌های اسکلتی است.

اهمیت ورزشی

به‌نظر می‌رسد که میان چندریختی «ACTN3 R577X» و عملکردِ ورزشکاران حرفه‌ای در پاورلیفتینگ و دو سرعت ارتباطی موجود باشد. این چندریختی ژنی با ریکاوری پس از ورزش و میزان آسیب‌دیدگی نیز مرتبط است؛^[۶] بدین نحو که در ژنوتیپ XX، احتمال آسیب دیدگی عضلات بیشتر است و مدت زمان بیشتری لازم است تا ماهیچه‌ها بهبود یابند.^[۶]

منابع

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006457 - 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.
↑ "Entrez Gene: ACTN3 actinin, alpha 3".
↑ Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM (May 1992). "Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11". The Journal of Biological Chemistry. 267 (13): 9281–8. PMID 1339456.
1 2 Pickering C, Kiely J (2017). "ACTN3: More than Just a Gene for Speed". Frontiers in Physiology. 8: 1080. doi:10.3389/fphys.2017.01080. PMC 5741991. PMID 29326606.

مشارکت‌کنندگان ویکی‌پدیا. «Actinin alpha 3». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۵ اوت ۲۰۱۹.

برای مطالعهٔ بیشتر

MacArthur DG, North KN (July 2004). "A gene for speed? The evolution and function of alpha-actinin-3". BioEssays. 26 (7): 786–95. doi:10.1002/bies.20061. PMID 15221860.
Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM (May 1992). "Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11". The Journal of Biological Chemistry. 267 (13): 9281–8. PMID 1339456.
Yürüker B, Niggli V (February 1992). "Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network". Journal of Cell Science. 101. 101 ( Pt 2): 403–14. PMID 1629252.
Pavalko FM, LaRoche SM (October 1993). "Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin". Journal of Immunology. 151 (7): 3795–807. PMID 8104223.
Chan Y, Tong HQ, Beggs AH, Kunkel LM (July 1998). "Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo". Biochemical and Biophysical Research Communications. 248 (1): 134–9. doi:10.1006/bbrc.1998.8920. PMID 9675099.
North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH (April 1999). "A common nonsense mutation results in alpha-actinin-3 deficiency in the general population". Nature Genetics. 21 (4): 353–4. doi:10.1038/7675. PMID 10192379.
Nikolopoulos SN, Spengler BA, Kisselbach K, Evans AE, Biedler JL, Ross RA (January 2000). "The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells". Oncogene. 19 (3): 380–6. doi:10.1038/sj.onc.1203310. PMID 10656685.
Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH (February 2001). "Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines". Proceedings of the National Academy of Sciences of the United States of America. 98 (4): 1595–600. doi:10.1073/pnas.041609698. PMC 29302. PMID 11171996.
Bang ML, Mudry RE, McElhinny AS, Trombitás K, Geach AJ, Yamasaki R, Sorimachi H, Granzier H, Gregorio CC, Labeit S (April 2001). "Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies". The Journal of Cell Biology. 153 (2): 413–27. doi:10.1083/jcb.153.2.413. PMC 2169455. PMID 11309420.
Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K (June 2001). "Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy". Human Molecular Genetics. 10 (13): 1335–46. doi:10.1093/hmg/10.13.1335. PMID 11440986.
Burgueño J, Blake DJ, Benson MA, Tinsley CL, Esapa CT, Canela EI, Penela P, Mallol J, Mayor F, Lluis C, Franco R, Ciruela F (September 2003). "The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin". The Journal of Biological Chemistry. 278 (39): 37545–52. doi:10.1074/jbc.M302809200. PMID 12837758.
Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP (July 2005). "ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women". Journal of Applied Physiology. 99 (1): 154–63. doi:10.1152/japplphysiol.01139.2004. PMID 15718405.
Franzot G, Sjöblom B, Gautel M, Djinović Carugo K (April 2005). "The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin". Journal of Molecular Biology. 348 (1): 151–65. doi:10.1016/j.jmb.2005.01.002. PMID 15808860.
Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, Harmon B, Devaney JM (August 2005). "ACTN3 and MLCK genotype associations with exertional muscle damage". Journal of Applied Physiology. 99 (2): 564–9. doi:10.1152/japplphysiol.00130.2005. PMID 15817725.
Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, Reiser J, Mundel P (May 2005). "Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner". The Journal of Clinical Investigation. 115 (5): 1188–98. doi:10.1172/JCI23371. PMC 1070637. PMID 15841212.
Niemi AK, Majamaa K (August 2005). "Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes". European Journal of Human Genetics. 13 (8): 965–9. doi:10.1038/sj.ejhg.5201438. PMID 15886711.
Triplett JW, Pavalko FM (November 2006). "Disruption of alpha-actinin-integrin interactions at focal adhesions renders osteoblasts susceptible to apoptosis". American Journal of Physiology. Cell Physiology. 291 (5): C909–21. doi:10.1152/ajpcell.00113.2006. PMID 16807302.

پیوند به بیرون

مکان ژنوم ACTN3 انسانی و صفحهٔ جزئیات ژنی ACTN3 در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006457 - 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.

[entrez-4] "Entrez Gene: ACTN3 actinin, alpha 3".

[pmid1339456-5] Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM (May 1992). "Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11". The Journal of Biological Chemistry. 267 (13): 9281–8. PMID 1339456.

[:0-6] 1 2 Pickering C, Kiely J (2017). "ACTN3: More than Just a Gene for Speed". Frontiers in Physiology. 8: 1080. doi:10.3389/fphys.2017.01080. PMC 5741991. PMID 29326606.

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