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[[Image:2ee6.png|left|200px]]


<!--
==Solution structure of the 21th filamin domain from human Filamin-B==
The line below this paragraph, containing "STRUCTURE_2ee6", creates the "Structure Box" on the page.
<StructureSection load='2ee6' size='340' side='right'caption='[[2ee6]]' scene=''>
You may change the PDB parameter (which sets the PDB file loaded into the applet)  
== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[2ee6]] 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=2EE6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EE6 FirstGlance]. <br>
or leave the SCENE parameter empty for the default display.
</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=2ee6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ee6 OCA], [https://pdbe.org/2ee6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ee6 RCSB], [https://www.ebi.ac.uk/pdbsum/2ee6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ee6 ProSAT], [https://www.topsan.org/Proteins/RSGI/2ee6 TOPSAN]</span></td></tr>
{{STRUCTURE_2ee6| PDB=2ee6 |  SCENE= }}
</table>
== Disease ==
[https://www.uniprot.org/uniprot/FLNB_HUMAN FLNB_HUMAN] Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.  Defects in FLNB are the cause of atelosteogenesis type 1 (AO1) [MIM:[https://omim.org/entry/108720 108720]; also known as giant cell chondrodysplasia or spondylohumerofemoral hypoplasia. Atelosteogenesis are lethal short-limb skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations.<ref>PMID:14991055</ref>  Defects in FLNB are the cause of atelosteogenesis type 3 (AO3) [MIM:[https://omim.org/entry/108721 108721]. Atelosteogenesis are short-limb lethal skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. In AO3 recurrent respiratory insufficiency and/or infections usually result in early death.<ref>PMID:14991055</ref>  Defects in FLNB are the cause of boomerang dysplasia (BOOMD) [MIM:[https://omim.org/entry/112310 112310]. This is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebre. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralisation, with complete absence of ossification in some limb elements and vertebral segments.<ref>PMID:15994868</ref>  Defects in FLNB are the cause of Larsen syndrome (LRS) [MIM:[https://omim.org/entry/150250 150250]. An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.<ref>PMID:14991055</ref> <ref>PMID:16801345</ref>  Defects in FLNB are the cause of spondylocarpotarsal synostosis syndrome (SCT) [MIM:[https://omim.org/entry/272460 272460]; also known as spondylocarpotarsal syndrome (SCT) or congenital synspondylism or vertebral fusion with carpal coalition or congenital scoliosis with unilateral unsegmented bar. The disorder is characterized by short stature and vertebral, carpal and tarsal fusions.<ref>PMID:14991055</ref>
== Function ==
[https://www.uniprot.org/uniprot/FLNB_HUMAN FLNB_HUMAN] Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.
== 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/ee/2ee6_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=2ee6 ConSurf].
<div style="clear:both"></div>


===Solution structure of the 21th filamin domain from human Filamin-B===
==See Also==
 
*[[Filamin 3D structures|Filamin 3D structures]]
 
*[[User:Georg Mlynek/workbench|User:Georg Mlynek/workbench]]
==Disease==
== References ==
Known disease associated with this structure: Atelosteogenesis, type III OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381 603381]], Atelostogenesis, type I OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381 603381]], Boomerang dysplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381 603381]], Larson syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381 603381]], Spondylocarpotarsal synostosis syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381 603381]]
<references/>
 
__TOC__
==About this Structure==
</StructureSection>
2EE6 is a [[Single protein]] structure of 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=2EE6 OCA].
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Single protein]]
[[Category: Large Structures]]
[[Category: Harada, T.]]
[[Category: Harada T]]
[[Category: Kigawa, T.]]
[[Category: Kigawa T]]
[[Category: Koshiba, S.]]
[[Category: Koshiba S]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Tomizawa T]]
[[Category: Tomizawa, T.]]
[[Category: Watanabe S]]
[[Category: Watanabe, S.]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S.]]
[[Category: Beta-sandwich]]
[[Category: Filamin]]
[[Category: Immunoglobulin-like fold]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Structural genomic]]
[[Category: Structural protein]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Sep 29 06:49:59 2008''

Latest revision as of 21:50, 29 May 2024

Solution structure of the 21th filamin domain from human Filamin-BSolution structure of the 21th filamin domain from human Filamin-B

Structural highlights

2ee6 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, TOPSAN

Disease

FLNB_HUMAN Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder. Defects in FLNB are the cause of atelosteogenesis type 1 (AO1) [MIM:108720; also known as giant cell chondrodysplasia or spondylohumerofemoral hypoplasia. Atelosteogenesis are lethal short-limb skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations.[1] Defects in FLNB are the cause of atelosteogenesis type 3 (AO3) [MIM:108721. Atelosteogenesis are short-limb lethal skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. In AO3 recurrent respiratory insufficiency and/or infections usually result in early death.[2] Defects in FLNB are the cause of boomerang dysplasia (BOOMD) [MIM:112310. This is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebre. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralisation, with complete absence of ossification in some limb elements and vertebral segments.[3] Defects in FLNB are the cause of Larsen syndrome (LRS) [MIM:150250. An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.[4] [5] Defects in FLNB are the cause of spondylocarpotarsal synostosis syndrome (SCT) [MIM:272460; also known as spondylocarpotarsal syndrome (SCT) or congenital synspondylism or vertebral fusion with carpal coalition or congenital scoliosis with unilateral unsegmented bar. The disorder is characterized by short stature and vertebral, carpal and tarsal fusions.[6]

Function

FLNB_HUMAN Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

References

  1. ↑ Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29. PMID:14991055 doi:10.1038/ng1319
  2. ↑ Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29. PMID:14991055 doi:10.1038/ng1319
  3. ↑ Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005 Jul;42(7):e43. PMID:15994868 doi:10.1136/jmg.2004.029967
  4. ↑ Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29. PMID:14991055 doi:10.1038/ng1319
  5. ↑ Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26. PMID:16801345 doi:10.1136/jmg.2006.043687
  6. ↑ Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29. PMID:14991055 doi:10.1038/ng1319
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