4apt: Difference between revisions

Line 1:

~~'''Unreleased~~ structure~~'''~~

===The structure of the AXH domain of ataxin-1.===

~~The~~ entry ~~4apt~~ is ~~ON HOLD until Paper Publication~~

==Disease==

[[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>

~~Authors~~: ~~Rees, M~~., ~~Chen~~, Y.W.~~, de Chira, C~~.~~, Pastore, A~~.

==Function==

[[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>

~~Description~~: ~~The structure of the AXH domain of ataxin~~-1.

==About this Structure==

[[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].

==Reference==

[[Category: Homo sapiens]]

[[Category: Chen, Y W.]]

[[Category: Chiara, C de.]]

[[Category: Pastore, A.]]

[[Category: Rees, M.]]

[[Category: Dimerization]]

[[Category: High mobility group homology]]

[[Category: Hmg]]

[[Category: Ob-fold]]

[[Category: Rna binding]]

[[Category: Rna binding protein]]

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
+{{STRUCTURE_4apt|  PDB=4apt  |  SCENE=  }}
+===The structure of the AXH domain of ataxin-1.===
+{{ABSTRACT_PUBMED_14583607}}
-The entry 4apt is ON HOLD  until Paper Publication
+==Disease==
+[[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>
-Authors: Rees, M., Chen, Y.W., de Chira, C., Pastore, A.
+==Function==
+[[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>
-Description: The structure of the AXH domain of ataxin-1.
+==About this Structure==
+[[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].
+==Reference==
+<ref group="xtra">PMID:014583607</ref><ref group="xtra">PMID:012965213</ref><references group="xtra"/><references/>
+[[Category: Homo sapiens]]
+[[Category: Chen, Y W.]]
+[[Category: Chiara, C de.]]
+[[Category: Pastore, A.]]
+[[Category: Rees, M.]]
+[[Category: Dimerization]]
+[[Category: High mobility group homology]]
+[[Category: Hmg]]
+[[Category: Ob-fold]]
+[[Category: Rna binding]]
+[[Category: Rna binding protein]]