4apt

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'''Unreleased structure'''
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{{STRUCTURE_4apt| PDB=4apt | SCENE= }}
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===The structure of the AXH domain of ataxin-1.===
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{{ABSTRACT_PUBMED_14583607}}
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The entry 4apt is ON HOLD until Paper Publication
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==Disease==
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[[http://www.uniprot.org/uniprot/ATX1_HUMAN ATX1_HUMAN]] Spinocerebellar ataxia type 1. Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:[http://omim.org/entry/164400 164400]]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.<ref>PMID:7951322</ref><ref>PMID:8634720</ref>
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Authors: Rees, M., Chen, Y.W., de Chira, C., Pastore, A.
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==Function==
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[[http://www.uniprot.org/uniprot/ATX1_HUMAN ATX1_HUMAN]] Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function.<ref>PMID:21475249</ref>
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Description: The structure of the AXH domain of ataxin-1.
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==About this Structure==
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[[4apt]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4APT OCA].
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==Reference==
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<ref group="xtra">PMID:014583607</ref><ref group="xtra">PMID:012965213</ref><references group="xtra"/><references/>
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[[Category: Homo sapiens]]
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[[Category: Chen, Y W.]]
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[[Category: Chiara, C de.]]
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[[Category: Pastore, A.]]
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[[Category: Rees, M.]]
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[[Category: Dimerization]]
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[[Category: High mobility group homology]]
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[[Category: Hmg]]
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[[Category: Ob-fold]]
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[[Category: Rna binding]]
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[[Category: Rna binding protein]]

Revision as of 08:55, 27 March 2013

Template:STRUCTURE 4apt

Contents

The structure of the AXH domain of ataxin-1.

Template:ABSTRACT PUBMED 14583607

Disease

[ATX1_HUMAN] Spinocerebellar ataxia type 1. Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.[1][2]

Function

[ATX1_HUMAN] Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function.[3]

About this Structure

4apt is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Chen YW, Allen MD, Veprintsev DB, Lowe J, Bycroft M. The structure of the AXH domain of spinocerebellar ataxin-1. J Biol Chem. 2004 Jan 30;279(5):3758-65. Epub 2003 Oct 28. PMID:14583607 doi:10.1074/jbc.M309817200
  • de Chiara C, Giannini C, Adinolfi S, de Boer J, Guida S, Ramos A, Jodice C, Kioussis D, Pastore A. The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS Lett. 2003 Sep 11;551(1-3):107-12. PMID:12965213
  1. ↑ Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513-20. PMID:7951322 doi:http://dx.doi.org/10.1038/ng0894-513
  2. ↑ Quan F, Janas J, Popovich BW. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet. 1995 Dec;4(12):2411-3. PMID:8634720
  3. ↑ Tong X, Gui H, Jin F, Heck BW, Lin P, Ma J, Fondell JD, Tsai CC. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. EMBO Rep. 2011 May;12(5):428-35. doi: 10.1038/embor.2011.49. Epub 2011 Apr 8. PMID:21475249 doi:10.1038/embor.2011.49

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