1bf5
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1bf5]] is a 3 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=1BF5 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1BF5 FirstGlance]. <br> | <table><tr><td colspan='2'>[[1bf5]] is a 3 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=1BF5 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1BF5 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=PTR:O-PHOSPHOTYROSINE'>PTR</scene></td></tr> | + | </td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=PTR:O-PHOSPHOTYROSINE'>PTR</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1bf5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1bf5 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1bf5 RCSB], [http://www.ebi.ac.uk/pdbsum/1bf5 PDBsum]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1bf5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1bf5 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1bf5 RCSB], [http://www.ebi.ac.uk/pdbsum/1bf5 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/STAT1_HUMAN STAT1_HUMAN]] Defects in STAT1 are the cause of STAT1 deficiency complete (STAT1D) [MIM:[http://omim.org/entry/613796 613796]]. STAT1D is a disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.<ref>PMID:12590259</ref> <ref>PMID:20841510</ref> Defects in STAT1 are a cause of Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:[http://omim.org/entry/209950 209950]]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.<ref>PMID:11452125</ref> <ref>PMID:16934001</ref> <ref>PMID:22573496</ref> Defects in STAT1 are the cause of familial candidiasis type 7 (CANDF7) [MIM:[http://omim.org/entry/614162 614162]]. A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. Note=STAT1 mutations in patients with autosomal dominant candidiasis lead to defective responses of type 1 and type 17 helper T-cells, characterized by reduced production of interferon-alpha, interleukin-17, and interleukin-22. These cytokines are crucial for the antifungal defense of skin and mucosa (PubMed:21714643).<ref>PMID:21727188</ref> <ref>PMID:21714643</ref> | [[http://www.uniprot.org/uniprot/STAT1_HUMAN STAT1_HUMAN]] Defects in STAT1 are the cause of STAT1 deficiency complete (STAT1D) [MIM:[http://omim.org/entry/613796 613796]]. STAT1D is a disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.<ref>PMID:12590259</ref> <ref>PMID:20841510</ref> Defects in STAT1 are a cause of Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:[http://omim.org/entry/209950 209950]]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.<ref>PMID:11452125</ref> <ref>PMID:16934001</ref> <ref>PMID:22573496</ref> Defects in STAT1 are the cause of familial candidiasis type 7 (CANDF7) [MIM:[http://omim.org/entry/614162 614162]]. A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. Note=STAT1 mutations in patients with autosomal dominant candidiasis lead to defective responses of type 1 and type 17 helper T-cells, characterized by reduced production of interferon-alpha, interleukin-17, and interleukin-22. These cytokines are crucial for the antifungal defense of skin and mucosa (PubMed:21714643).<ref>PMID:21727188</ref> <ref>PMID:21714643</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Chen, X | + | [[Category: Chen, X]] |
| - | [[Category: Darnell, J E | + | [[Category: Darnell, J E]] |
| - | [[Category: Jeruzalmi, D | + | [[Category: Jeruzalmi, D]] |
| - | [[Category: Kuriyan, J | + | [[Category: Kuriyan, J]] |
| - | [[Category: Vinkemeier, U | + | [[Category: Vinkemeier, U]] |
| - | [[Category: Zhao, Y | + | [[Category: Zhao, Y]] |
[[Category: Gene regulation-dna complex]] | [[Category: Gene regulation-dna complex]] | ||
[[Category: Sh2 domain]] | [[Category: Sh2 domain]] | ||
[[Category: Transcription factor]] | [[Category: Transcription factor]] | ||
Revision as of 11:08, 22 December 2014
TYROSINE PHOSPHORYLATED STAT-1/DNA COMPLEX
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