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[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ 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[ویرایش]

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.
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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.
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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.
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این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ 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.

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