TARDBP

TARDBP
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1WF0, 2CQG, 4BS2, 4IUF, 4Y0F, 2N4P, 2N2C, 4Y00, 2N4G, 2N4H, 2N3X
معین‌کننده‌ها
نام‌های دیگر	TARDBP, ALS10, TDP-43, TAR DNA binding protein
شناسه‌های بیرونی	OMIM: 605078 MGI: 2387629 HomoloGene: 7221 GeneCards: TARDBP
موقعیت ژن (موش)
کروموزوم	کروموزوم ۴ (موش)
پایان	148,711,476 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• DNA binding; • GO:0001131، GO:0001151، GO:0001130، GO:0001204 DNA-binding transcription factor activity; • mRNA 3'-UTR binding; • GO:0001077، GO:0001212، GO:0001213، GO:0001211، GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • GO:0001948، GO:0016582 پیوند پروتئینی; • identical protein binding; • RNA binding; • nucleic acid binding; • double-stranded DNA binding; • single-stranded RNA binding; • sequence-specific double-stranded DNA binding;
ترکیبات سلولی	• سیتوپلاسم; • nuclear speck; • نوکلئوپلاسم; • interchromatin granule; • perichromatin fibrils; • هسته یاخته; • ribonucleoprotein complex; • cytoplasmic stress granule;
فرایند زیستی	• GO:0033128 negative regulation of protein phosphorylation; • GO:0009373 regulation of transcription, DNA-templated; • mRNA processing; • negative regulation of gene expression; • response to endoplasmic reticulum stress; • transcription, DNA-templated; • regulation of cell cycle; • negative regulation by host of viral transcription; • پیرایش آران‌ای; • nuclear inner membrane organization; • 3'-UTR-mediated mRNA stabilization; • GO:0003257، GO:0010735، GO:1901228، GO:1900622، GO:1904488 positive regulation of transcription by RNA polymerase II; • positive regulation of insulin secretion; • transcription by RNA polymerase II; • regulation of apoptotic process; • positive regulation of protein import into nucleus; • regulation of protein stability; • regulation of circadian rhythm; • rhythmic process;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	23435
	230908
	ENSG00000120948
	ENSMUSG00000041459
	Q13148
	Q921F2
	XM_017000863، XM_017000864، XM_017000865، XM_017000866، XM_017000867، XM_017000868 NM_007375، XM_017000863، XM_017000864، XM_017000865، XM_017000866، XM_017000867، XM_017000868
	NM_001003899، NM_001008545، NM_001008546، NM_145556، NR_027864، XR_390742، NM_001305425، NR_131120، NR_149751 NM_001003898، NM_001003899، NM_001008545، NM_001008546، NM_145556، NR_027864، XR_390742، NM_001305425، NR_131120، NR_149751
	XP_016856352، XP_016856353، XP_016856354، XP_016856355، XP_016856356، XP_016856357 NP_031401، XP_016856352، XP_016856353، XP_016856354، XP_016856355، XP_016856356، XP_016856357; NP_031401.1
	NP_001003899، NP_001008545، NP_001008546، NP_001292354، NP_663531 NP_001003898، NP_001003899، NP_001008545، NP_001008546، NP_001292354، NP_663531
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

پروتئین شمارهٔ ۴۳ TAR متصل‌شوندهٔ به دی‌ان‌ای (انگلیسی: TAR DNA-binding protein 43) یک پروتئین است که در انسان توسط ژن «TARDBP» کُدگذاری می‌شود.^[۴]

انواعِ معیوب این پروتئین در بروز اسکلروز جانبی آمیوتروفیک (ALS)،^[۵]^[۶]^[۷]^[۸] دمانس فرونتوتمپورال (زوال عقل گیجگاهی-پیشانی)^[۹] بدون آلفا-سینوکلئین^[۱۰] و بیماری آلزایمر^[۱۱] نقش دارد.

منابع

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041459 - 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.
↑ Ou SH, Wu F, Harrich D, García-Martínez LF, Gaynor RB (June 1995). "Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs". Journal of Virology. 69 (6): 3584–96. PMC 189073. PMID 7745706.
↑ Bräuer S, Zimyanin V, Hermann A (April 2018). "Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis". Journal of Neural Transmission. 125 (4): 591–613. doi:10.1007/s00702-018-1851-y. PMID 29417336.
↑ Lau DH, Hartopp N, Welsh NJ, Mueller S, Glennon EB, Mórotz GM, Annibali A, Gomez-Suaga P, Stoica R, Paillusson S, Miller CC (February 2018). "Disruption of ER-mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis". Cell Death & Disease. 9 (3): 327. doi:10.1038/s41419-017-0022-7. PMC 5832427. PMID 29491392.
↑ Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE (March 2008). "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis". Science. 319 (5870): 1668–72. doi:10.1126/science.1154584. PMID 18309045.
↑ Gendron TF, Rademakers R, Petrucelli L (2013). "TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43". Journal of Alzheimer's Disease. 33 Suppl 1 (suppl 1): S35-45. doi:10.3233/JAD-2012-129036. PMC 3532959. PMID 22751173.
↑ Kwong LK, Neumann M, Sampathu DM, Lee VM, Trojanowski JQ (July 2007). "TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease". Acta Neuropathologica. 114 (1): 63–70. doi:10.1007/s00401-007-0226-5. PMID 17492294.
↑ Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM (July 2011). "A harmonized classification system for FTLD-TDP pathology". Acta Neuropathologica. 122 (1): 111–3. doi:10.1007/s00401-011-0845-8. PMC 3285143. PMID 21644037.
↑ Tremblay C, St-Amour I, Schneider J, Bennett DA, Calon F (September 2011). "Accumulation of transactive response DNA binding protein 43 in mild cognitive impairment and Alzheimer disease". Journal of Neuropathology and Experimental Neurology. 70 (9): 788–98. doi:10.1097/nen.0b013e31822c62cf. PMC 3197017. PMID 21865887.

مشارکت‌کنندگان ویکی‌پدیا. «TARDBP». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۴ مه ۲۰۱۸.

بیشتر بخوانید

Kwong LK, Neumann M, Sampathu DM, Lee VM, Trojanowski JQ (July 2007). "TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease". Acta Neuropathologica. 114 (1): 63–70. doi:10.1007/s00401-007-0226-5. PMID 17492294.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Tokai N, Fujimoto-Nishiyama A, Toyoshima Y, Yonemura S, Tsukita S, Inoue J, Yamamota T (February 1996). "Kid, a novel kinesin-like DNA binding protein, is localized to chromosomes and the mitotic spindle". The EMBO Journal. 15 (3): 457–67. PMC 449964. PMID 8599929.
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Buratti E, Dörk T, Zuccato E, Pagani F, Romano M, Baralle FE (April 2001). "Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping". The EMBO Journal. 20 (7): 1774–84. doi:10.1093/emboj/20.7.1774. PMC 145463. PMID 11285240.
Buratti E, Baralle FE (September 2001). "Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9". The Journal of Biological Chemistry. 276 (39): 36337–43. doi:10.1074/jbc.M104236200. PMID 11470789.
Wang IF, Reddy NM, Shen CK (October 2002). "Higher order arrangement of the eukaryotic nuclear bodies". Proceedings of the National Academy of Sciences of the United States of America. 99 (21): 13583–8. doi:10.1073/pnas.212483099. PMC 129717. PMID 12361981.
Lehner B, Sanderson CM (July 2004). "A protein interaction framework for human mRNA degradation". Genome Research. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE (November 2005). "TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing". The Journal of Biological Chemistry. 280 (45): 37572–84. doi:10.1074/jbc.M505557200. PMID 16157593.
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041459 - 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.

[pmid7745706-4] Ou SH, Wu F, Harrich D, García-Martínez LF, Gaynor RB (June 1995). "Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs". Journal of Virology. 69 (6): 3584–96. PMC 189073. PMID 7745706.

[5] Bräuer S, Zimyanin V, Hermann A (April 2018). "Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis". Journal of Neural Transmission. 125 (4): 591–613. doi:10.1007/s00702-018-1851-y. PMID 29417336.

[6] Lau DH, Hartopp N, Welsh NJ, Mueller S, Glennon EB, Mórotz GM, Annibali A, Gomez-Suaga P, Stoica R, Paillusson S, Miller CC (February 2018). "Disruption of ER-mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis". Cell Death & Disease. 9 (3): 327. doi:10.1038/s41419-017-0022-7. PMC 5832427. PMID 29491392.

[7] Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE (March 2008). "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis". Science. 319 (5870): 1668–72. doi:10.1126/science.1154584. PMID 18309045.

[8] Gendron TF, Rademakers R, Petrucelli L (2013). "TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43". Journal of Alzheimer's Disease. 33 Suppl 1 (suppl 1): S35-45. doi:10.3233/JAD-2012-129036. PMC 3532959. PMID 22751173.

[pmid17492294-9] Kwong LK, Neumann M, Sampathu DM, Lee VM, Trojanowski JQ (July 2007). "TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease". Acta Neuropathologica. 114 (1): 63–70. doi:10.1007/s00401-007-0226-5. PMID 17492294.

[pmid21644037-10] Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM (July 2011). "A harmonized classification system for FTLD-TDP pathology". Acta Neuropathologica. 122 (1): 111–3. doi:10.1007/s00401-011-0845-8. PMC 3285143. PMID 21644037.

[pmid21865887-11] Tremblay C, St-Amour I, Schneider J, Bennett DA, Calon F (September 2011). "Accumulation of transactive response DNA binding protein 43 in mild cognitive impairment and Alzheimer disease". Journal of Neuropathology and Experimental Neurology. 70 (9): 788–98. doi:10.1097/nen.0b013e31822c62cf. PMC 3197017. PMID 21865887.

[۱]

[۲]

[۳]

[۴]

[۵]

[۶]

[۷]

[۸]

[۹]

[۱۰]

[۱۱]