2yul

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[[Image:2yul.png|left|200px]]
 
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{{STRUCTURE_2yul| PDB=2yul | SCENE= }}
{{STRUCTURE_2yul| PDB=2yul | SCENE= }}
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===Solution structure of the HMG box of human Transcription factor SOX-17===
===Solution structure of the HMG box of human Transcription factor SOX-17===
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==Disease==
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[[http://www.uniprot.org/uniprot/SOX17_HUMAN SOX17_HUMAN]] Defects in SOX17 are the cause of vesicoureteral reflux type 3 (VUR3) [MIM:[http://omim.org/entry/613674 613674]]. VUR3 is a disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.<ref>PMID:20960469</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/SOX17_HUMAN SOX17_HUMAN]] Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).
==About this Structure==
==About this Structure==
[[2yul]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YUL OCA].
[[2yul]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YUL OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Abe, H.]]
[[Category: Abe, H.]]

Revision as of 23:48, 24 March 2013

Template:STRUCTURE 2yul

Contents

Solution structure of the HMG box of human Transcription factor SOX-17

Disease

[SOX17_HUMAN] Defects in SOX17 are the cause of vesicoureteral reflux type 3 (VUR3) [MIM:613674]. VUR3 is a disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.[1]

Function

[SOX17_HUMAN] Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).

About this Structure

2yul is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9. PMID:20960469 doi:10.1002/humu.21378

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