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Sodyum potasyum taşıyan ATPaz alt birimi alfa 3 insanlarda ATP1A3 geniyle kodlanmış enzimdir Beyindeki sodyum ve pot

ATP1A3

ATP1A3
www.wikipedia.tr-tr.nina.azhttps://www.wikipedia.tr-tr.nina.az

Sodyum/potasyum taşıyan ATPaz alt birimi alfa-3, insanlarda ATP1A3 geniyle kodlanmış enzimdir. Beyindeki sodyum ve potasyum seviyelerinin düzenlenmesiyle ilgilidir.

İşlev

Bu gen tarafından kodlanan protein P-tipi katyon taşıyıcı ATPaz'lar ailesine ve Na+/K+-ATPaz'lar alt ailesine aittir. Na+/K+-ATPaz, boyunca Na ve iyonlarının elektromanyetik meyillerini kurma ve yönetmede sorumlu, bütüncül . Bu meyiller, ozmoregülasyon, çeşitli organik ve inorganik moleküllerin sodyum bağlı taşınması, sinir ve kas sistemlerinin elektriksel uyarılabilirliği gibi işlemlerde zorunludur. Enzim iki alt birimden oluşur. Bir büyük katalitik alt birim (alfa) ve daha küçük olan glikoprotein alt birim (beta) Na+/K+-ATPaz'ın katalitik alt birimi birden çok genden oluşur. Bu gen bir alfa 3 alt birimini kodlar.

Klinik durumlar

ATP1A3'teki mutasyonlar genellikle hızlı başlangıçlı distoni (ikincil parkinson, RDP ya da DYT12)'de görülür. Bu tanıya sahip kişilerde genetik test önerilir.[]

Bu genin mutasyonu farelerde epilepsi ile ilgilidir. Farelerde bu genin tahrif edilmesi epilepsiyi önlemektedir.

Çocukluk çağı alternan hemiplejinin genetik nedeni olması muhtemeldir.

Kaynakça

  1. ^ Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain. 130 (Pt 3). ss. 828-35. doi:10.1093/brain/awl340. (PMID) 17282997. KB1 bakım: Birden fazla ad: yazar listesi ()
  2. ^ a b "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide". 6 Mart 2010 tarihinde kaynağından . 
  3. ^ "Arşivlenmiş kopya". 21 Şubat 2014 tarihinde kaynağından . Erişim tarihi: 12 Şubat 2014. 
  4. ^ Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC (Ağustos 2009). "Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS". Proc. Natl. Acad. Sci. U.S.A. 106 (33). ss. 14085-90. doi:10.1073/pnas.0904817106. (PMC) 2729024 $2. (PMID) 19666602. KB1 bakım: Birden fazla ad: yazar listesi ()
  5. ^ Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S; ve diğerleri. (Temmuz 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nat Genet. 44 (9). ss. 1030-4. doi:10.1038/ng.2358. (PMC) 3442240 $2. (PMID) 22842232. KB1 bakım: Diğerlerinin yanlış kullanımı () KB1 bakım: Birden fazla ad: yazar listesi ()

Konuyla ilgili yayınlar

  • Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase". Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. Cilt 38. ss. 37-89. doi:10.1016/S0079-6603(08)60708-4. ISBN . (PMID) 2158121. KB1 bakım: Birden fazla ad: yazar listesi ()
  • Sverdlov ED; Monastyrskaia GS; Broude NE; Ushkarev, IuA; Melkov, AM (1988). "The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII" [The family of human Na+,+-ATPase genes. Structure of the gene for isozyme alphaII]. . 297 (6). ss. 1488-94. (PMID) 2834163. 
  • Ovchinnikov YuA; Monastyrskaya GS; Broude NE; Ushkaryov, Y; Melkov, A; Smirnov, Y; Malyshev, I; Allikmets, R; Kostina, M (1988). "Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein". FEBS Lett. 233 (1). ss. 87-94. doi:10.1016/0014-5793(88)81361-9. (PMID) 2838329. 
  • Yang-Feng TL; Schneider JW; Lindgren V; Shull, M. M.; Benz, E. J.; Lingrel, J. B.; Francke, U. (1988). "Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes". Genomics. 2 (2). ss. 128-38. doi:10.1016/0888-7543(88)90094-8. (PMID) 2842249. 
  • Sverdlov ED; Broude NE; Sverdlov VE; Monastyrskaya, G. S.; Grishin, A. V.; Petrukhin, K. E.; Akopyanz, N. S.; Modyanov, N. N.; Ovchinnikov, Yu. A. (1987). "Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism". FEBS Lett. 221 (1). ss. 129-33. doi:10.1016/0014-5793(87)80366-6. (PMID) 2887455. 
  • Harley HG; Brook JD; Jackson CL; Glaser, T; Walsh, KV; Sarfarazi, M; Kent, R; Lager, M; Koch, M (1989). "Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus". Genomics. 3 (4). ss. 380-4. doi:10.1016/0888-7543(88)90131-0. (PMID) 2907504. 
  • Ovchinnikov YuA; Monastyrskaya GS; Broude NE; Allikmets, R; Ushkaryov, Y; Melkov, A; Smirnov, Y; Malyshev, I; Dulubova, I (1987). "The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit". FEBS Lett. 213 (1). ss. 73-80. doi:10.1016/0014-5793(87)81467-9. (PMID) 3030810. 
  • Shull MM, Lingrel JB (1987). "Multiple genes encode the human Na+,K+-ATPase catalytic subunit". Proc. Natl. Acad. Sci. U.S.A. 84 (12). ss. 4039-43. doi:10.1073/pnas.84.12.4039. (PMC) 305017 $2. (PMID) 3035563. 
  • Sverdlov ED; Monastyrskaya GS; Broude NE; Ushkaryov, Y; Allikmets, R; Melkov, A; Smirnov, Y; Malyshev, I; Dulobova, I (1987). "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit". FEBS Lett. 217 (2). ss. 275-8. doi:10.1016/0014-5793(87)80677-4. (PMID) 3036582. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2). ss. 171-4. doi:10.1016/0378-1119(94)90802-8. (PMID) 8125298. 
  • Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K; Suyama, Akira; Sugano, Sumio (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2). ss. 149-56. doi:10.1016/S0378-1119(97)00411-3. (PMID) 9373149. 
  • Kramer PL; Mineta M; Klein C; Schilling, Karla; De Leon, Deborah; Farlow, Martin R.; Breakefield, Xandra O.; Bressman, Susan B.; Dobyns, William B. (1999). "Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13". Ann. Neurol. 46 (2). ss. 176-82. doi:10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2. (PMID) 10443882. 
  • Strausberg RL; Feingold EA; Grouse LH; Derge, JG; Klausner, RD; Collins, FS; Wagner, L; Shenmen, CM; Schuler, GD (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26). ss. 16899-903. doi:10.1073/pnas.242603899. (PMC) 139241 $2. (PMID) 12477932. 
  • Esplin MS, Fausett MB, Faux DS, Graves SW (2003). "Changes in the isoforms of the sodium pump in the placenta and myometrium of women in labor". Am. J. Obstet. Gynecol. 188 (3). ss. 759-64. doi:10.1067/mob.2003.166. (PMID) 12634653. KB1 bakım: Birden fazla ad: yazar listesi ()
  • Ota T; Suzuki Y; Nishikawa T; Otsuki, Tetsuji; Sugiyama, Tomoyasu; Irie, Ryotaro; Wakamatsu, Ai; Hayashi, Koji; Sato, Hiroyuki (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1). ss. 40-5. doi:10.1038/ng1285. (PMID) 14702039. 
  • de Carvalho Aguiar P (2004). "Mutations in the Na+/+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism". Neuron. 43 (2). ss. 169-75. doi:10.1016/j.neuron.2004.06.028. (PMID) 15260953. 
  • Benfante R; Antonini RA; Vaccari M; Flora, Adriano; Chen, Fabian; Clementi, Francesco; Fornasari, Diego (2005). "The expression of the human neuronal α3 Na+,K+-ATPase subunit gene is regulated by the activity of the Sp1 and NF-Y transcription factors". Biochem. J. 386 (Pt 1). ss. 63-72. doi:10.1042/BJ20041294. (PMC) 1134767 $2. (PMID) 15462673. 
  • Gerhard DS; Wagner L; Feingold EA; Shenmen, CM; Grouse, LH; Schuler, G; Klein, SL; Old, S; Rasooly, R (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B). ss. 2121-7. doi:10.1101/gr.2596504. (PMC) 528928 $2. (PMID) 15489334. 
  • Lim J; Hao T; Shaw C; Patel, Akash J.; Szabó, Gábor; Rual, Jean-François; Fisk, C. Joseph; Li, Ning; Smolyar, Alex (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4). ss. 801-14. doi:10.1016/j.cell.2006.03.032. (PMID) 16713569. 

Dış bağlantılar (İngilizce)

  • GeneReview/NCBI/NIH/UW entry on Rapid-Onset Dystonia Parkinsonism 21 Mart 2010 tarihinde Wayback Machine sitesinde .

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Sodyum potasyum tasiyan ATPaz alt birimi alfa 3 insanlarda ATP1A3 geniyle kodlanmis enzimdir Beyindeki sodyum ve potasyum seviyelerinin duzenlenmesiyle ilgilidir IslevBu gen tarafindan kodlanan protein P tipi katyon tasiyici ATPaz lar ailesine ve Na K ATPaz lar alt ailesine aittir Na K ATPaz boyunca Na ve iyonlarinin elektromanyetik meyillerini kurma ve yonetmede sorumlu butuncul Bu meyiller ozmoregulasyon cesitli organik ve inorganik molekullerin sodyum bagli tasinmasi sinir ve kas sistemlerinin elektriksel uyarilabilirligi gibi islemlerde zorunludur Enzim iki alt birimden olusur Bir buyuk katalitik alt birim alfa ve daha kucuk olan glikoprotein alt birim beta Na K ATPaz in katalitik alt birimi birden cok genden olusur Bu gen bir alfa 3 alt birimini kodlar Klinik durumlarATP1A3 teki mutasyonlar genellikle hizli baslangicli distoni ikincil parkinson RDP ya da DYT12 de gorulur Bu taniya sahip kisilerde genetik test onerilir kaynak belirtilmeli Bu genin mutasyonu farelerde epilepsi ile ilgilidir Farelerde bu genin tahrif edilmesi epilepsiyi onlemektedir Cocukluk cagi alternan hemiplejinin genetik nedeni olmasi muhtemeldir Kaynakca Brashear A Dobyns WB de Carvalho Aguiar P Borg M Frijns CJ Gollamudi S Green A Guimaraes J Haake BC Klein C Linazasoro G Munchau A Raymond D Riley D Saunders Pullman R Tijssen MA Webb D Zaremba J Bressman SB Ozelius LJ Mar 2007 The phenotypic spectrum of rapid onset dystonia parkinsonism RDP and mutations in the ATP1A3 gene Brain 130 Pt 3 ss 828 35 doi 10 1093 brain awl340 PMID 17282997 KB1 bakim Birden fazla ad yazar listesi link a b Entrez Gene ATP1A3 ATPase Na K transporting alpha 3 polypeptide 6 Mart 2010 tarihinde kaynagindan Arsivlenmis kopya 21 Subat 2014 tarihinde kaynagindan Erisim tarihi 12 Subat 2014 Clapcote SJ Duffy S Xie G Kirshenbaum G Bechard AR Rodacker Schack V Petersen J Sinai L Saab BJ Lerch JP Minassian BA Ackerley CA Sled JG Cortez MA Henderson JT Vilsen B Roder JC Agustos 2009 Mutation I810N in the alpha3 isoform of Na K ATPase causes impairments in the sodium pump and hyperexcitability in the CNS Proc Natl Acad Sci U S A 106 33 ss 14085 90 doi 10 1073 pnas 0904817106 PMC 2729024 2 PMID 19666602 KB1 bakim Birden fazla ad yazar listesi link Heinzen EL Swoboda KJ Hitomi Y Gurrieri F Nicole S de Vries B Tiziano FD Fontaine B Walley NM Heavin S ve digerleri Temmuz 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 9 ss 1030 4 doi 10 1038 ng 2358 PMC 3442240 2 PMID 22842232 KB1 bakim Digerlerinin yanlis kullanimi link KB1 bakim Birden fazla ad yazar listesi link Konuyla ilgili yayinlarLingrel JB Orlowski J Shull MM Price EM 1990 Molecular genetics of Na K ATPase Prog Nucleic Acid Res Mol Biol Progress in Nucleic Acid Research and Molecular Biology Cilt 38 ss 37 89 doi 10 1016 S0079 6603 08 60708 4 ISBN 978 0 12 540038 1 PMID 2158121 KB1 bakim Birden fazla ad yazar listesi link Sverdlov ED Monastyrskaia GS Broude NE Ushkarev IuA Melkov AM 1988 The family of human Na K ATPase genes Structure of the gene for isozyme alphaII The family of human Na ATPase genes Structure of the gene for isozyme alphaII 297 6 ss 1488 94 PMID 2834163 Ovchinnikov YuA Monastyrskaya GS Broude NE Ushkaryov Y Melkov A Smirnov Y Malyshev I Allikmets R Kostina M 1988 Family of human Na K ATPase genes Structure of the gene for the catalytic subunit alpha III form and its relationship with structural features of the protein FEBS Lett 233 1 ss 87 94 doi 10 1016 0014 5793 88 81361 9 PMID 2838329 Yang Feng TL Schneider JW Lindgren V Shull M M Benz E J Lingrel J B Francke U 1988 Chromosomal localization of human Na K ATPase alpha and beta subunit genes Genomics 2 2 ss 128 38 doi 10 1016 0888 7543 88 90094 8 PMID 2842249 Sverdlov ED Broude NE Sverdlov VE Monastyrskaya G S Grishin A V Petrukhin K E Akopyanz N S Modyanov N N Ovchinnikov Yu A 1987 Family of Na K ATPase genes Intra individual tissue specific restriction fragment length polymorphism FEBS Lett 221 1 ss 129 33 doi 10 1016 0014 5793 87 80366 6 PMID 2887455 Harley HG Brook JD Jackson CL Glaser T Walsh KV Sarfarazi M Kent R Lager M Koch M 1989 Localization of a human Na K ATPase alpha subunit gene to chromosome 19q12 q13 2 and linkage to the myotonic dystrophy locus Genomics 3 4 ss 380 4 doi 10 1016 0888 7543 88 90131 0 PMID 2907504 Ovchinnikov YuA Monastyrskaya GS Broude NE Allikmets R Ushkaryov Y Melkov A Smirnov Y Malyshev I Dulubova I 1987 The family of human Na K ATPase genes A partial nucleotide sequence related to the alpha subunit FEBS Lett 213 1 ss 73 80 doi 10 1016 0014 5793 87 81467 9 PMID 3030810 Shull MM Lingrel JB 1987 Multiple genes encode the human Na K ATPase catalytic subunit Proc Natl Acad Sci U S A 84 12 ss 4039 43 doi 10 1073 pnas 84 12 4039 PMC 305017 2 PMID 3035563 Sverdlov ED Monastyrskaya GS Broude NE Ushkaryov Y Allikmets R Melkov A Smirnov Y Malyshev I Dulobova I 1987 The family of human Na K ATPase genes No less than five genes and or pseudogenes related to the alpha subunit FEBS Lett 217 2 ss 275 8 doi 10 1016 0014 5793 87 80677 4 PMID 3036582 Maruyama K Sugano S 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 ss 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 Suzuki Y Yoshitomo Nakagawa K Maruyama K Suyama Akira Sugano Sumio 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 ss 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Kramer PL Mineta M Klein C Schilling Karla De Leon Deborah Farlow Martin R Breakefield Xandra O Bressman Susan B Dobyns William B 1999 Rapid onset dystonia parkinsonism linkage to chromosome 19q13 Ann Neurol 46 2 ss 176 82 doi 10 1002 1531 8249 199908 46 2 lt 176 AID ANA6 gt 3 0 CO 2 2 PMID 10443882 Strausberg RL Feingold EA Grouse LH Derge JG Klausner RD Collins FS Wagner L Shenmen CM Schuler GD 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 ss 16899 903 doi 10 1073 pnas 242603899 PMC 139241 2 PMID 12477932 Esplin MS Fausett MB Faux DS Graves SW 2003 Changes in the isoforms of the sodium pump in the placenta and myometrium of women in labor Am J Obstet Gynecol 188 3 ss 759 64 doi 10 1067 mob 2003 166 PMID 12634653 KB1 bakim Birden fazla ad yazar listesi link Ota T Suzuki Y Nishikawa T Otsuki Tetsuji Sugiyama Tomoyasu Irie Ryotaro Wakamatsu Ai Hayashi Koji Sato Hiroyuki 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 ss 40 5 doi 10 1038 ng1285 PMID 14702039 de Carvalho Aguiar P 2004 Mutations in the Na ATPase alpha3 gene ATP1A3 are associated with rapid onset dystonia parkinsonism Neuron 43 2 ss 169 75 doi 10 1016 j neuron 2004 06 028 PMID 15260953 Benfante R Antonini RA Vaccari M Flora Adriano Chen Fabian Clementi Francesco Fornasari Diego 2005 The expression of the human neuronal a3 Na K ATPase subunit gene is regulated by the activity of the Sp1 and NF Y transcription factors Biochem J 386 Pt 1 ss 63 72 doi 10 1042 BJ20041294 PMC 1134767 2 PMID 15462673 Gerhard DS Wagner L Feingold EA Shenmen CM Grouse LH Schuler G Klein SL Old S Rasooly R 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B ss 2121 7 doi 10 1101 gr 2596504 PMC 528928 2 PMID 15489334 Lim J Hao T Shaw C Patel Akash J Szabo Gabor Rual Jean Francois Fisk C Joseph Li Ning Smolyar Alex 2006 A protein protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration Cell 125 4 ss 801 14 doi 10 1016 j cell 2006 03 032 PMID 16713569 Dis baglantilar Ingilizce GeneReview NCBI NIH UW entry on Rapid Onset Dystonia Parkinsonism 21 Mart 2010 tarihinde Wayback Machine sitesinde

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