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7qxh
From Proteopedia
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| - | | + | #REDIRECT [[8oyk]] This PDB entry is obsolete and replaced by 8oyk |
| - | ==Coiled-Coil Domain of Human STIL, Q729L Mutant==
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| - | <StructureSection load='7qxh' size='340' side='right'caption='[[7qxh]], [[Resolution|resolution]] 1.65Å' scene=''>
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| - | == Structural highlights ==
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| - | <table><tr><td colspan='2'>[[7qxh]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7QXH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7QXH FirstGlance]. <br>
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| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CD:CADMIUM+ION'>CD</scene></td></tr>
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| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7qxh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7qxh OCA], [https://pdbe.org/7qxh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7qxh RCSB], [https://www.ebi.ac.uk/pdbsum/7qxh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7qxh ProSAT]</span></td></tr>
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| - | </table>
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| - | == Disease ==
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| - | [https://www.uniprot.org/uniprot/STIL_HUMAN STIL_HUMAN] Precursor T-cell acute lymphoblastic leukemia;Autosomal recessive primary microcephaly. A chromosomal aberration involving STIL may be a cause of some T-cell acute lymphoblastic leukemias (T-ALL). A deletion at 1p32 between STIL and TAL1 genes leads to STIL/TAL1 fusion mRNA with STIL exon 1 slicing to TAL1 exon 3. As both STIL exon 1 and TAL1 exon 3 are 5'-untranslated exons, STIL/TAL1 fusion mRNA predicts a full length TAL1 protein under the control of the STIL promoter, leading to inappropriate TAL1 expression. In childhood T-cell malignancies (T-ALL), a type of defect such as STIL/TAL1 fusion is associated with a good prognosis. In cultured lymphocytes from healthy adults, STIL/TAL1 fusion mRNA may be detected after 7 days of culture. The disease is caused by mutations affecting the gene represented in this entry.
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| - | == Function ==
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| - | [https://www.uniprot.org/uniprot/STIL_HUMAN STIL_HUMAN] Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1.<ref>PMID:16024801</ref> <ref>PMID:9372240</ref>
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| - | == References ==
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| - | <references/>
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| - | __TOC__
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| - | </StructureSection>
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| - | [[Category: Homo sapiens]]
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| - | [[Category: Large Structures]]
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| - | [[Category: Friedler A]]
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| - | [[Category: Martin FJO]]
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| - | [[Category: Shamir M]]
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| - | [[Category: Woolfson DN]]
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Current revision
- REDIRECT 8oyk This PDB entry is obsolete and replaced by 8oyk
