2m41

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Template:STRUCTURE 2m41

Contents

Solution Structure of the AXH domain of Ataxin-1 in complex with ligand peptide from Capicua

Template:ABSTRACT PUBMED 24155902

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

[CIC_HUMAN] Transcriptional repressor which may play a role in development of the central nervous system (CNS).[3] [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.[4]

About this Structure

2m41 is a 2 chain structure. Full experimental information is available from OCA.

Reference

  • de Chiara C, Menon RP, Kelly G, Pastore A. Protein-protein interactions as a strategy towards protein-specific drug design: the example of ataxin-1. PLoS One. 2013 Oct 14;8(10):e76456. doi: 10.1371/journal.pone.0076456. PMID:24155902 doi:http://dx.doi.org/10.1371/journal.pone.0076456
  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. ↑ Lee CJ, Chan WI, Cheung M, Cheng YC, Appleby VJ, Orme AT, Scotting PJ. CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons. Brain Res Mol Brain Res. 2002 Oct 15;106(1-2):151-6. PMID:12393275
  4. ↑ 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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