3fnv

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m (Protected "3fnv" [edit=sysop:move=sysop])
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[[Image:3fnv.png|left|200px]]
 
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{{STRUCTURE_3fnv| PDB=3fnv | SCENE= }}
{{STRUCTURE_3fnv| PDB=3fnv | SCENE= }}
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===Crystal Structure of Miner1: The Redox-active 2Fe-2S Protein Causative in Wolfram Syndrome 2===
===Crystal Structure of Miner1: The Redox-active 2Fe-2S Protein Causative in Wolfram Syndrome 2===
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{{ABSTRACT_PUBMED_19580816}}
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{{ABSTRACT_PUBMED_19580816}}
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==Disease==
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[[http://www.uniprot.org/uniprot/CISD2_HUMAN CISD2_HUMAN]] Defects in CISD2 are the cause of Wolfram syndrome type 2 (WFS2) [MIM:[http://omim.org/entry/604928 604928]]. A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.<ref>PMID:17846994</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/CISD2_HUMAN CISD2_HUMAN]] Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy.<ref>PMID:17846994</ref><ref>PMID:20010695</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:019580816</ref><references group="xtra"/>
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<ref group="xtra">PMID:019580816</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Abresch, E C.]]
[[Category: Abresch, E C.]]

Revision as of 11:36, 24 March 2013

Template:STRUCTURE 3fnv

Contents

Crystal Structure of Miner1: The Redox-active 2Fe-2S Protein Causative in Wolfram Syndrome 2

Template:ABSTRACT PUBMED 19580816

Disease

[CISD2_HUMAN] Defects in CISD2 are the cause of Wolfram syndrome type 2 (WFS2) [MIM:604928]. A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.[1]

Function

[CISD2_HUMAN] Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy.[2][3]

About this Structure

3fnv is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Conlan AR, Axelrod HL, Cohen AE, Abresch EC, Zuris J, Yee D, Nechushtai R, Jennings PA, Paddock ML. Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. J Mol Biol. 2009 Sep 11;392(1):143-53. Epub 2009 Jul 4. PMID:19580816 doi:10.1016/j.jmb.2009.06.079
  1. ↑ Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20. PMID:17846994 doi:10.1086/520961
  2. ↑ Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20. PMID:17846994 doi:10.1086/520961
  3. ↑ Chang NC, Nguyen M, Germain M, Shore GC. Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1. EMBO J. 2010 Feb 3;29(3):606-18. doi: 10.1038/emboj.2009.369. Epub 2009 Dec 10. PMID:20010695 doi:10.1038/emboj.2009.369

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