2lvc: Difference between revisions

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'''Unreleased structure'''


The entry 2lvc is ON HOLD  until Aug 25 2013
==Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K==
<StructureSection load='2lvc' size='340' side='right'caption='[[2lvc]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[2lvc]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LVC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LVC FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2lvc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2lvc OCA], [https://pdbe.org/2lvc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2lvc RCSB], [https://www.ebi.ac.uk/pdbsum/2lvc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2lvc ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[https://omim.org/entry/612921 612921]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref>
== Function ==
[https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN]


Authors: Pulavarti, S., Eletsky, A., Sukumaran, D.K., Lee, D., Kohan, E., Janjua, H., Xiao, R., Acton, T.B., Everett, J.K., Pederson, K., Prestegard, J., Montelione, G.T., Szyperski, T., Northeast Structural Genomics Consortium (NESG)
==See Also==
 
*[[Obscurin|Obscurin]]
Description: Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Acton TB]]
[[Category: Eletsky A]]
[[Category: Everett JK]]
[[Category: Janjua H]]
[[Category: Kohan E]]
[[Category: Lee D]]
[[Category: Montelione GT]]
[[Category: Pederson K]]
[[Category: Prestegard J]]
[[Category: Pulavarti S]]
[[Category: Sukumaran DK]]
[[Category: Szyperski T]]
[[Category: Xiao R]]

Latest revision as of 08:53, 15 May 2024

Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578KSolution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K

Structural highlights

2lvc is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

OBSL1_HUMAN Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.[1]

Function

OBSL1_HUMAN

See Also

References

  1. ↑ Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 , May 28. PMID:19481195 doi:10.1016/j.ajhg.2009.04.021
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