3sf4
From Proteopedia
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{{STRUCTURE_3sf4| PDB=3sf4 | SCENE= }} | {{STRUCTURE_3sf4| PDB=3sf4 | SCENE= }} | ||
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===Crystal structure of the complex between the conserved cell polarity proteins Inscuteable and LGN=== | ===Crystal structure of the complex between the conserved cell polarity proteins Inscuteable and LGN=== | ||
| + | {{ABSTRACT_PUBMED_22074847}} | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/GPSM2_HUMAN GPSM2_HUMAN]] Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Chudley-McCullough syndrome. Chudley-McCullough syndrome (CMCS) [MIM:[http://omim.org/entry/604213 604213]]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:20602914</ref> <ref>PMID:22578326</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/GPSM2_HUMAN GPSM2_HUMAN]] Plays an important role in spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions.<ref>PMID:15632202</ref> [[http://www.uniprot.org/uniprot/INSC_HUMAN INSC_HUMAN]] May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis it may regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium.<ref>PMID:16458856</ref> | ||
==About this Structure== | ==About this Structure== | ||
[[3sf4]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3SF4 OCA]. | [[3sf4]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3SF4 OCA]. | ||
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| + | ==Reference== | ||
| + | <ref group="xtra">PMID:022074847</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayase, J.]] | [[Category: Hayase, J.]] | ||
Revision as of 10:21, 19 June 2013
Contents |
Crystal structure of the complex between the conserved cell polarity proteins Inscuteable and LGN
Template:ABSTRACT PUBMED 22074847
Disease
[GPSM2_HUMAN] Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Chudley-McCullough syndrome. Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. Note=The disease is caused by mutations affecting the gene represented in this entry.[1] [2]
Function
[GPSM2_HUMAN] Plays an important role in spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions.[3] [INSC_HUMAN] May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis it may regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium.[4]
About this Structure
3sf4 is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Yuzawa S, Kamakura S, Iwakiri Y, Hayase J, Sumimoto H. Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). Proc Natl Acad Sci U S A. 2011 Nov 29;108(48):19210-5. Epub 2011 Nov 10. PMID:22074847 doi:10.1073/pnas.1110951108
- ↑ Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010, Jun 17. PMID:20602914 doi:10.1016/j.ajhg.2010.05.010
- ↑ Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M, Triggs-Raine B, Zelinski T. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub, 2012 May 10. PMID:22578326 doi:10.1016/j.ajhg.2012.04.008
- ↑ Yasumi M, Sakisaka T, Hoshino T, Kimura T, Sakamoto Y, Yamanaka T, Ohno S, Takai Y. Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division. J Biol Chem. 2005 Feb 25;280(8):6761-5. Epub 2005 Jan 4. PMID:15632202 doi:C400440200
- ↑ Izaki T, Kamakura S, Kohjima M, Sumimoto H. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. Biochem Biophys Res Commun. 2006 Mar 24;341(4):1001-6. Epub 2006 Jan 24. PMID:16458856 doi:S0006-291X(06)00112-4
