View source for 1yow


==human Steroidogenic Factor 1 LBD with bound Co-factor Peptide==
<StructureSection load='1yow' size='340' side='right'caption='[[1yow]], [[Resolution|resolution]] 3.00&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[1yow]] is a 2 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=1YOW OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1YOW FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=P0E:PHOSPHATIDYL+ETHANOL'>P0E</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1yow FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1yow OCA], [https://pdbe.org/1yow PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1yow RCSB], [https://www.ebi.ac.uk/pdbsum/1yow PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1yow ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/STF1_HUMAN STF1_HUMAN] Defects in NR5A1 are a cause of 46,XY sex reversal type 3 (SRXY3) [MIM:[https://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:[https://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:[https://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:[https://omim.org/entry/613957 613957]. SPGF8 is an infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.<ref>PMID:20887963</ref> 
== Function ==
[https://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> 
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/yo/1yow_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1yow ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Bynum JM]]
[[Category: Guy RK]]
[[Category: Ingraham HA]]
[[Category: Juzumiene D]]
[[Category: Krylova IN]]
[[Category: Lebedeva L]]
[[Category: MacKay JA]]
[[Category: Madauss KP]]
[[Category: Montana V]]
[[Category: Moore J]]
[[Category: Sablin EP]]
[[Category: Suzawa M]]
[[Category: Thornton JW]]
[[Category: Waitt GM]]
[[Category: Williams JD]]
[[Category: Williams SP]]
[[Category: Willson TM]]
[[Category: Xu RX]]