TIA1: Difference between revisions
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'''TIA1''' is a 3'UTR [[Messenger RNA|mRNA]] binding protein that can bind the 5'TOP sequence of 5'TOP mRNAs. It is associated with programmed cell death ([[apoptosis]]) and regulates [[alternative splicing]] of the gene encoding the [[Fas receptor]], an apoptosis-promoting protein.<ref name="pmid16109372">{{cite journal |vauthors=Izquierdo JM, Majós N, Bonnal S, etal |title=Regulation of Fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition |journal=Mol. Cell |volume=19 |issue=4 |pages=475–84 |date=August 2005 |pmid=16109372 |doi=10.1016/j.molcel.2005.06.015 |url=http://linkinghub.elsevier.com/retrieve/pii/S1097-2765(05)01418-8}}</ref> Under stress conditions, TIA1 localizes to cellular RNA-protein conglomerations called [[ | '''TIA1''' is a 3'UTR [[Messenger RNA|mRNA]] binding protein that can bind the 5'TOP sequence of 5'TOP mRNAs. It is associated with programmed cell death ([[apoptosis]]) and regulates [[alternative splicing]] of the gene encoding the [[Fas receptor]], an apoptosis-promoting protein.<ref name="pmid16109372">{{cite journal |vauthors=Izquierdo JM, Majós N, Bonnal S, etal |title=Regulation of Fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition |journal=Mol. Cell |volume=19 |issue=4 |pages=475–84 |date=August 2005 |pmid=16109372 |doi=10.1016/j.molcel.2005.06.015 |url=http://linkinghub.elsevier.com/retrieve/pii/S1097-2765(05)01418-8}}</ref> Under stress conditions, TIA1 localizes to cellular RNA-protein conglomerations called [[stress granule]]s.<ref>{{Cite journal|last=Kedersha|first=N. L.|last2=Gupta|first2=M.|last3=Li|first3=W.|last4=Miller|first4=I.|last5=Anderson|first5=P.|date=1999-12-27|title=RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2 alpha to the assembly of mammalian stress granules|journal=The Journal of Cell Biology|volume=147|issue=7|pages=1431–1442|issn=0021-9525|pmc=2174242|pmid=10613902|doi=10.1083/jcb.147.7.1431}}</ref> | ||
Mutations in the ''TIA1'' gene have been associated with [[amyotrophic lateral sclerosis]], [[frontotemporal dementia]], and Welander [[Distal muscular dystrophy|distal myopathy]].<ref>{{Cite journal|last=Mackenzie|first=Ian R.|last2=Nicholson|first2=Alexandra M.|last3=Sarkar|first3=Mohona|last4=Messing|first4=James|last5=Purice|first5=Maria D.|last6=Pottier|first6=Cyril|last7=Annu|first7=Kavya|last8=Baker|first8=Matt|last9=Perkerson|first9=Ralph B.|date=2017-08-16|title=TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics | Mutations in the ''TIA1'' gene have been associated with [[amyotrophic lateral sclerosis]], [[frontotemporal dementia]], and Welander [[Distal muscular dystrophy|distal myopathy]].<ref>{{Cite journal|last=Mackenzie|first=Ian R.|last2=Nicholson|first2=Alexandra M.|last3=Sarkar|first3=Mohona|last4=Messing|first4=James|last5=Purice|first5=Maria D.|last6=Pottier|first6=Cyril|last7=Annu|first7=Kavya|last8=Baker|first8=Matt|last9=Perkerson|first9=Ralph B.|date=2017-08-16|title=TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics|journal=Neuron|volume=95|issue=4|pages=808–816.e9|doi=10.1016/j.neuron.2017.07.025|issn=1097-4199|pmc=5576574|pmid=28817800}}</ref><ref>{{Cite journal|last=Hackman|first=Peter|last2=Sarparanta|first2=Jaakko|last3=Lehtinen|first3=Sara|last4=Vihola|first4=Anna|last5=Evilä|first5=Anni|last6=Jonson|first6=Per Harald|last7=Luque|first7=Helena|last8=Kere|first8=Juha|last9=Screen|first9=Mark|date=April 2013|title=Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1|journal=Annals of Neurology|volume=73|issue=4|pages=500–509|doi=10.1002/ana.23831|issn=1531-8249|pmid=23401021}}</ref><ref>{{Cite journal|last=Klar|first=Joakim|last2=Sobol|first2=Maria|last3=Melberg|first3=Atle|last4=Mäbert|first4=Katrin|last5=Ameur|first5=Adam|last6=Johansson|first6=Anna C. V.|last7=Feuk|first7=Lars|last8=Entesarian|first8=Miriam|last9=Orlén|first9=Hanna|date=April 2013|title=Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing|journal=Human Mutation|volume=34|issue=4|pages=572–577|doi=10.1002/humu.22282|issn=1098-1004|pmid=23348830}}</ref> | ||
==See also== | ==See also== | ||
* [[Stress granule]] | * [[Stress granule]] | ||
* [[T-cell large granular lymphocyte leukemia]] | * [[T-cell large granular lymphocyte leukemia]] | ||
== Notes == | |||
{{reflist}} | |||
==External links== | ==External links== | ||
Latest revision as of 15:22, 26 June 2018
| TIA1 cytotoxic granule-associated RNA binding protein | |
|---|---|
| Identifiers | |
| Symbol | TIA1 |
| Entrez | 7072 |
| HUGO | 11802 |
| OMIM | 603518 |
| RefSeq | NM_022173 |
| UniProt | P31483 |
| Other data | |
| Locus | Chr. 2 p13 |
TIA1 is a 3'UTR mRNA binding protein that can bind the 5'TOP sequence of 5'TOP mRNAs. It is associated with programmed cell death (apoptosis) and regulates alternative splicing of the gene encoding the Fas receptor, an apoptosis-promoting protein.[1] Under stress conditions, TIA1 localizes to cellular RNA-protein conglomerations called stress granules.[2]
Mutations in the TIA1 gene have been associated with amyotrophic lateral sclerosis, frontotemporal dementia, and Welander distal myopathy.[3][4][5]
See also
Notes
- ↑ Izquierdo JM, Majós N, Bonnal S, et al. (August 2005). "Regulation of Fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition". Mol. Cell. 19 (4): 475–84. doi:10.1016/j.molcel.2005.06.015. PMID 16109372.
- ↑ Kedersha, N. L.; Gupta, M.; Li, W.; Miller, I.; Anderson, P. (1999-12-27). "RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2 alpha to the assembly of mammalian stress granules". The Journal of Cell Biology. 147 (7): 1431–1442. doi:10.1083/jcb.147.7.1431. ISSN 0021-9525. PMC 2174242. PMID 10613902.
- ↑ Mackenzie, Ian R.; Nicholson, Alexandra M.; Sarkar, Mohona; Messing, James; Purice, Maria D.; Pottier, Cyril; Annu, Kavya; Baker, Matt; Perkerson, Ralph B. (2017-08-16). "TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics". Neuron. 95 (4): 808–816.e9. doi:10.1016/j.neuron.2017.07.025. ISSN 1097-4199. PMC 5576574. PMID 28817800.
- ↑ Hackman, Peter; Sarparanta, Jaakko; Lehtinen, Sara; Vihola, Anna; Evilä, Anni; Jonson, Per Harald; Luque, Helena; Kere, Juha; Screen, Mark (April 2013). "Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1". Annals of Neurology. 73 (4): 500–509. doi:10.1002/ana.23831. ISSN 1531-8249. PMID 23401021.
- ↑ Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin; Ameur, Adam; Johansson, Anna C. V.; Feuk, Lars; Entesarian, Miriam; Orlén, Hanna (April 2013). "Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing". Human Mutation. 34 (4): 572–577. doi:10.1002/humu.22282. ISSN 1098-1004. PMID 23348830.
External links
- TIA1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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