2as5: Difference between revisions
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{{STRUCTURE_2as5| PDB=2as5 | SCENE= }} | {{STRUCTURE_2as5| PDB=2as5 | SCENE= }} | ||
===Structure of the DNA binding domains of NFAT and FOXP2 bound specifically to DNA.=== | |||
{{ABSTRACT_PUBMED_16873067}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/FOXP2_HUMAN FOXP2_HUMAN]] Defects in FOXP2 are the cause of speech-language disorder 1 (SPCH1) [MIM:[http://omim.org/entry/602081 602081]]; also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Affected individuals have a severe impairment in the selection and sequencing of fine orofacial movements, which are necessary for articulation. They also show deficits in several facets of language processing (such as the ability to break up words into their constituent phonemes) and grammatical skills.<ref>PMID:11586359</ref> Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2). | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FOXP2_HUMAN FOXP2_HUMAN]] Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Involved in neural mechanisms mediating the development of speech and language. [[http://www.uniprot.org/uniprot/NFAC2_HUMAN NFAC2_HUMAN]] Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway.<ref>PMID:21871017</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016873067</ref><references group="xtra"/> | <ref group="xtra">PMID:016873067</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bates, D L.]] | [[Category: Bates, D L.]] | ||
Revision as of 21:21, 24 March 2013
Structure of the DNA binding domains of NFAT and FOXP2 bound specifically to DNA.Structure of the DNA binding domains of NFAT and FOXP2 bound specifically to DNA.
Template:ABSTRACT PUBMED 16873067
DiseaseDisease
[FOXP2_HUMAN] Defects in FOXP2 are the cause of speech-language disorder 1 (SPCH1) [MIM:602081]; also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Affected individuals have a severe impairment in the selection and sequencing of fine orofacial movements, which are necessary for articulation. They also show deficits in several facets of language processing (such as the ability to break up words into their constituent phonemes) and grammatical skills.[1] Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).
FunctionFunction
[FOXP2_HUMAN] Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Involved in neural mechanisms mediating the development of speech and language. [NFAC2_HUMAN] Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway.[2]
About this StructureAbout this Structure
2as5 is a 8 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Wu Y, Borde M, Heissmeyer V, Feuerer M, Lapan AD, Stroud JC, Bates DL, Guo L, Han A, Ziegler SF, Mathis D, Benoist C, Chen L, Rao A. FOXP3 controls regulatory T cell function through cooperation with NFAT. Cell. 2006 Jul 28;126(2):375-87. PMID:16873067 doi:10.1016/j.cell.2006.05.042
- ↑ Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001 Oct 4;413(6855):519-23. PMID:11586359 doi:10.1038/35097076
- ↑ Yiu GK, Kaunisto A, Chin YR, Toker A. NFAT promotes carcinoma invasive migration through glypican-6. Biochem J. 2011 Nov 15;440(1):157-66. doi: 10.1042/BJ20110530. PMID:21871017 doi:10.1042/BJ20110530