4qk4
From Proteopedia
(Difference between revisions)
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| - | ''' | + | ==Crystal structure of human nuclear receptor sf-1 (nr5a1) bound to pip2 at 2.8 a resolution== |
| - | + | <StructureSection load='4qk4' size='340' side='right' caption='[[4qk4]], [[Resolution|resolution]] 2.81Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[4qk4]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4QK4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4QK4 FirstGlance]. <br> | |
| - | + | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=PIK:(2S)-3-{[(R)-HYDROXY{[(1R,2R,3S,4R,5R,6S)-2,3,6-TRIHYDROXY-4,5-BIS(PHOSPHONOOXY)CYCLOHEXYL]OXY}PHOSPHORYL]OXY}PROPANE-1,2-DIYL+DIHEXADECANOATE'>PIK</scene><br> | |
| - | + | <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=4qk4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4qk4 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4qk4 RCSB], [http://www.ebi.ac.uk/pdbsum/4qk4 PDBsum]</span></td></tr> | |
| - | + | <table> | |
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/STF1_HUMAN STF1_HUMAN]] Defects in NR5A1 are a cause of 46,XY sex reversal type 3 (SRXY3) [MIM:[http://omim.org/entry/612965 612965]]. A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.<ref>PMID:10369247</ref> <ref>PMID:11932325</ref> <ref>PMID:17200175</ref> <ref>PMID:17694559</ref> Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:[http://omim.org/entry/184757 184757]]. ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH.<ref>PMID:11038323</ref> Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:[http://omim.org/entry/612964 612964]]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.<ref>PMID:19246354</ref> Defects in NR5A1 are the cause of spermatogenic failure type 8 (SPGF8) [MIM:[http://omim.org/entry/613957 613957]]. SPGF8 is an infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.<ref>PMID:20887963</ref> | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/STF1_HUMAN STF1_HUMAN]] Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.<ref>PMID:17210646</ref> [[http://www.uniprot.org/uniprot/PRGC1_HUMAN PRGC1_HUMAN]] Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism.<ref>PMID:10713165</ref> <ref>PMID:20005308</ref> <ref>PMID:21376232</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: JCSG, Joint Center for Structural Genomics.]] | ||
| + | [[Category: STEMCELL, Partnership for Stem Cell Biology.]] | ||
| + | [[Category: Jcsg]] | ||
| + | [[Category: Joint center for structural genomic]] | ||
| + | [[Category: Nr5a1]] | ||
| + | [[Category: Nuclear hormone receptor]] | ||
| + | [[Category: Nuclear phosphatidylinositol phosphate]] | ||
| + | [[Category: Nucleus]] | ||
| + | [[Category: Partnership for stem cell biology]] | ||
| + | [[Category: Pip2]] | ||
| + | [[Category: Pip3]] | ||
| + | [[Category: Protein structure initiative]] | ||
| + | [[Category: Psi-biology]] | ||
| + | [[Category: Regulatory ligand]] | ||
| + | [[Category: Sf-1 ligand binding domain]] | ||
| + | [[Category: Structural genomic]] | ||
| + | [[Category: Transcription]] | ||
| + | [[Category: Transcription factor-hormone complex]] | ||
| + | [[Category: Transcription regulation]] | ||
Revision as of 07:53, 30 July 2014
Crystal structure of human nuclear receptor sf-1 (nr5a1) bound to pip2 at 2.8 a resolution
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Categories: JCSG, Joint Center for Structural Genomics. | STEMCELL, Partnership for Stem Cell Biology. | Jcsg | Joint center for structural genomic | Nr5a1 | Nuclear hormone receptor | Nuclear phosphatidylinositol phosphate | Nucleus | Partnership for stem cell biology | Pip2 | Pip3 | Protein structure initiative | Psi-biology | Regulatory ligand | Sf-1 ligand binding domain | Structural genomic | Transcription | Transcription factor-hormone complex | Transcription regulation
