2di8 - Revision history

OCA at 18:41, 29 May 2024

2024-05-29T18:41:23Z

←Older revision		Revision as of 18:41, 29 May 2024
Line 24:		Line 24:
	==See Also==		==See Also==
	*[[Filamin 3D structures\|Filamin 3D structures]]		*[[Filamin 3D structures\|Filamin 3D structures]]
		+	*[[User:Georg Mlynek/workbench\|User:Georg Mlynek/workbench]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 11:39, 22 May 2024

2024-05-22T11:39:04Z

←Older revision		Revision as of 11:39, 22 May 2024
Line 1:		Line 1:

	==Solution structure of the 19th filamin domain from human Filamin-B==		==Solution structure of the 19th filamin domain from human Filamin-B==
-	<StructureSection load='2di8' size='340' side='right'caption='[[2di8~~]], [[NMR_Ensembles_of_Models \| 20 NMR models~~]]' scene=''>	+	<StructureSection load='2di8' size='340' side='right'caption='[[2di8]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2di8]] 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=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat"~~>FLNB ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&~~id=~~9606 HUMAN])~~</td></tr>	+	</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=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [https://pdbe.org/2di8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [https://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2di8 ProSAT], [https://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></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=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [https://pdbe.org/2di8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [https://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2di8 ProSAT], [https://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== 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>	+	[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 ==		== 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.	+	[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 ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 24:		Line 24:
	==See Also==		==See Also==
	*[[Filamin 3D structures\|Filamin 3D structures]]		*[[Filamin 3D structures\|Filamin 3D structures]]
-	*[[User:Georg Mlynek/workbench\|User:Georg Mlynek/workbench]]
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Inoue, M]]	+	[[Category: Inoue M]]
-	[[Category: Kigawa, T]]	+	[[Category: Kigawa T]]
-	[[Category: Koshiba, S]]	+	[[Category: Koshiba S]]
-	~~[[Category: Structural genomic~~]]	+	[[Category: Tomizawa T]]
-	[[Category: Tomizawa, T]]	+	[[Category: Yokoyama S]]
-	[[Category: Yokoyama, S]]	+
-	~~[[Category: Beta-sandwich]]~~	+
-	~~[[Category: Filamin domain]]~~	+
-	~~[[Category: Immunoglobulin-like fold]]~~	+
-	~~[[Category: National project on protein structural and functional analyse]]~~	+
-	~~[[Category: Nppsfa]]~~	+
-	~~[[Category: Rsgi]]~~	+
-	~~[[Category: Structural protein~~]]	+

OCA at 06:32, 9 March 2022

2022-03-09T06:32:23Z

←Older revision		Revision as of 06:32, 9 March 2022
Line 24:		Line 24:
	==See Also==		==See Also==
	*[[Filamin 3D structures\|Filamin 3D structures]]		*[[Filamin 3D structures\|Filamin 3D structures]]
		+	*[[User:Georg Mlynek/workbench\|User:Georg Mlynek/workbench]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 12:03, 3 February 2021

2021-02-03T12:03:10Z

←Older revision		Revision as of 12:03, 3 February 2021
Line 1:		Line 1:

	==Solution structure of the 19th filamin domain from human Filamin-B==		==Solution structure of the 19th filamin domain from human Filamin-B==
-	<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>	+	<StructureSection load='2di8' size='340' side='right'caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [~~http~~://pdbe.org/2di8 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2di8 ProSAT], [~~http~~://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></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=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [https://pdbe.org/2di8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [https://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2di8 ProSAT], [https://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://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:[~~http~~://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:[~~http~~://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:[~~http~~://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:[~~http~~://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:[~~http~~://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>	+	[[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 ==		== Function ==
-	[[~~http~~://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.	+	[[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 ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 23:		Line 23:

	==See Also==		==See Also==
-	*[[Filamin\|Filamin]]	+	*[[Filamin 3D structures\|Filamin 3D structures]]
-	*[[User:Georg Mlynek/workbench\|User:Georg Mlynek/workbench]]	+
	== References ==		== References ==
	<references/>		<references/>
Line 30:		Line 29:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Inoue, M]]		[[Category: Inoue, M]]
	[[Category: Kigawa, T]]		[[Category: Kigawa, T]]

OCA at 06:32, 30 May 2018

2018-05-30T06:32:04Z

←Older revision		Revision as of 06:32, 30 May 2018
Line 1:		Line 1:
		+
	==Solution structure of the 19th filamin domain from human Filamin-B==		==Solution structure of the 19th filamin domain from human Filamin-B==
	<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://pdbe.org/2di8 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://pdbe.org/2di8 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2di8 ProSAT], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 14:		Line 15:
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/di/2di8_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/di/2di8_consurf.spt"</scriptWhenChecked>
	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>		<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
	</jmolCheckbox>		</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/~~chain_selection~~.php?pdb_ID=~~2ata~~ ConSurf].	+	</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=2di8 ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>

OCA at 09:16, 11 September 2015

2015-09-11T09:16:48Z

←Older revision		Revision as of 09:16, 11 September 2015
Line 2:		Line 2:
	<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2di8]] 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=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2di8]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://pdbe.org/2di8 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 28:		Line 28:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Inoue, M]]		[[Category: Inoue, M]]
	[[Category: Kigawa, T]]		[[Category: Kigawa, T]]

OCA at 16:41, 15 January 2015

2015-01-15T16:41:22Z

←Older revision		Revision as of 16:41, 15 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2di8]] 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=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2di8]] 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=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://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:[http://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:[http://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:[http://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:[http://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:[http://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>		[[http://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:[http://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:[http://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:[http://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:[http://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:[http://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>
Line 29:		Line 29:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Inoue, M.]]	+	[[Category: Inoue, M]]
-	[[Category: Kigawa, T.]]	+	[[Category: Kigawa, T]]
-	[[Category: Koshiba, S.]]	+	[[Category: Koshiba, S]]
-	[[Category: ~~RSGI, RIKEN~~ Structural ~~Genomics/Proteomics Initiative.~~]]	+	[[Category: Structural genomic]]
-	[[Category: Tomizawa, T.]]	+	[[Category: Tomizawa, T]]
-	[[Category: Yokoyama, S.]]	+	[[Category: Yokoyama, S]]
	[[Category: Beta-sandwich]]		[[Category: Beta-sandwich]]
	[[Category: Filamin domain]]		[[Category: Filamin domain]]
Line 40:		Line 40:
	[[Category: National project on protein structural and functional analyse]]		[[Category: National project on protein structural and functional analyse]]
	[[Category: Nppsfa]]		[[Category: Nppsfa]]
-	[[Category: Riken structural genomics/proteomics initiative]]
	[[Category: Rsgi]]		[[Category: Rsgi]]
-	[[Category: Structural genomic]]
	[[Category: Structural protein]]		[[Category: Structural protein]]

OCA at 01:54, 30 September 2014

2014-09-30T01:54:44Z

←Older revision		Revision as of 01:54, 30 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2di8\| PDB=2di8 \| SCENE= }}~~	+	==Solution structure of the 19th filamin domain from human Filamin-B==
-	===Solution structure of the 19th filamin domain from human Filamin-B===	+	<StructureSection load='2di8' size='340' side='right' caption='[[2di8]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
-		+	== Structural highlights ==
-	==Disease==	+	<table><tr><td colspan='2'>[[2di8]] 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=2DI8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DI8 FirstGlance]. <br>
-	[[http://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:[http://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:[http://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:[http://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:[http://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:[http://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>	+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FLNB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-		+	<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2di8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2di8 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2di8 RCSB], [http://www.ebi.ac.uk/pdbsum/2di8 PDBsum], [http://www.topsan.org/Proteins/RSGI/2di8 TOPSAN]</span></td></tr>
-	==Function==	+	<table>
		+	== Disease ==
		+	[[http://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:[http://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:[http://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:[http://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:[http://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:[http://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 ==
	[[http://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.		[[http://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 ==
-	==~~About this Structure~~==	+	[[Image:Consurf_key_small.gif\|200px\|right]]
-	[[~~2di8~~]] ~~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=~~2DI8 OCA~~].	+	Check<jmol>
		+	<jmolCheckbox>
		+	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/di/2di8_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/chain_selection.php?pdb_ID=2ata ConSurf].
		+	<div style="clear:both"></div>

	==See Also==		==See Also==
	*[[Filamin\|Filamin]]		*[[Filamin\|Filamin]]
-		+	*[[User:Georg Mlynek/workbench\|User:Georg Mlynek/workbench]]
-	==~~Reference~~==	+	== References ==
-	<references ~~group="xtra"~~/><~~references~~/>	+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M.]]

OCA at 05:51, 25 March 2013

2013-03-25T05:51:09Z

←Older revision		Revision as of 05:51, 25 March 2013
Line 1:		Line 1:
-	[[Image:2di8.png\|left\|200px]]
-
	{{STRUCTURE_2di8\| PDB=2di8 \| SCENE= }}		{{STRUCTURE_2di8\| PDB=2di8 \| SCENE= }}
-
	===Solution structure of the 19th filamin domain from human Filamin-B===		===Solution structure of the 19th filamin domain from human Filamin-B===

		+	==Disease==
		+	[[http://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:[http://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:[http://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:[http://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:[http://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:[http://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==
		+	[[http://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.

	==About this Structure==		==About this Structure==
Line 11:		Line 13:
	==See Also==		==See Also==
	*[[Filamin\|Filamin]]		*[[Filamin\|Filamin]]
		+
		+	==Reference==
		+	<references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Inoue, M.]]		[[Category: Inoue, M.]]

OCA at 17:46, 20 October 2012

2012-10-20T17:46:47Z

←Older revision		Revision as of 17:46, 20 October 2012
Line 7:		Line 7:

	==About this Structure==		==About this Structure==
-	[[2di8]] is a 1 chain structure ~~of [[Filamin]]~~ 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=2DI8 OCA].	+	[[2di8]] 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=2DI8 OCA].

	==See Also==		==See Also==