2m74 - Revision history

OCA at 13:32, 22 February 2023

2023-02-22T13:32:30Z

←Older revision		Revision as of 13:32, 22 February 2023
Line 1:		Line 1:

	==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==		==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==
-	<StructureSection load='2m74' size='340' side='right'caption='[[2m74~~]], [[NMR_Ensembles_of_Models \| 20 NMR models~~]]' scene=''>	+	<StructureSection load='2m74' size='340' side='right'caption='[[2m74]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2M74 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2M74 FirstGlance]. <br>
-	</td></tr>~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FBN, FBN1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>~~	+	</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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [https://pdbe.org/2m74 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [https://www.ebi.ac.uk/pdbsum/2m74 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2m74 ProSAT]</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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [https://pdbe.org/2m74 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [https://www.ebi.ac.uk/pdbsum/2m74 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2m74 ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[https://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[https://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[https://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[https://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[https://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[https://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[https://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[https://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>	+	[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[https://omim.org/entry/154700 154700]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[https://omim.org/entry/129600 129600]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[https://omim.org/entry/608328 608328]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[https://omim.org/entry/182212 182212]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[https://omim.org/entry/604308 604308]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[https://omim.org/entry/184900 184900]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[https://omim.org/entry/614185 614185]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[https://omim.org/entry/102370 102370]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>	+	[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 24:		Line 23:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Handford~~, P A~~]]	+	[[Category: Handford PA]]
-	[[Category: Jensen~~, S A~~]]	+	[[Category: Jensen SA]]
-	[[Category: Redfield, C]]	+	[[Category: Redfield C]]
-	[[Category: Robertson~~, I B~~]]	+	[[Category: Robertson IB]]
-	[[Category: Yadin~~, D A]]~~	+	[[Category: Yadin DA]]
-	~~[[Category: Structural protein~~]]	+

OCA at 11:00, 19 May 2021

2021-05-19T11:00:49Z

←Older revision		Revision as of 11:00, 19 May 2021
Line 1:		Line 1:

	==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==		==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==
-	<StructureSection load='2m74' size='340' side='right' caption='[[2m74]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>	+	<StructureSection load='2m74' size='340' side='right'caption='[[2m74]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2M74 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2M74 FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FBN, FBN1 ([~~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">FBN, FBN1 ([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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [~~http~~://pdbe.org/2m74 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2m74 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2m74 ProSAT]</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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [https://pdbe.org/2m74 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [https://www.ebi.ac.uk/pdbsum/2m74 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2m74 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[~~http~~://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[~~http~~://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[~~http~~://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[~~http~~://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[~~http~~://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[~~http~~://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[~~http~~://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[~~http~~://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>	+	[[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[https://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[https://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[https://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[https://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[https://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[https://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[https://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[https://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>	+	[[https://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 25:		Line 25:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Handford, P A]]		[[Category: Handford, P A]]
	[[Category: Jensen, S A]]		[[Category: Jensen, S A]]

OCA at 23:08, 9 August 2018

2018-08-09T23:08:18Z

←Older revision		Revision as of 23:08, 9 August 2018
Line 1:		Line 1:
		+
	==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==		==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==
	<StructureSection load='2m74' size='340' side='right' caption='[[2m74]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>		<StructureSection load='2m74' size='340' side='right' caption='[[2m74]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M74 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M74 FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FBN, FBN1 ([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">FBN, FBN1 ([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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [http://pdbe.org/2m74 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [http://www.ebi.ac.uk/pdbsum/2m74 PDBsum]</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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [http://pdbe.org/2m74 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [http://www.ebi.ac.uk/pdbsum/2m74 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2m74 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==

OCA at 02:35, 12 September 2015

2015-09-12T02:35:14Z

←Older revision		Revision as of 02:35, 12 September 2015
Line 4:		Line 4:
	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M74 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M74 FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FBN, FBN1 ([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">FBN, FBN1 ([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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [http://www.ebi.ac.uk/pdbsum/2m74 PDBsum]</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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [http://pdbe.org/2m74 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [http://www.ebi.ac.uk/pdbsum/2m74 PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 18:		Line 18:
	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
		+	<div class="pdbe-citations 2m74" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>

OCA at 07:24, 21 December 2014

2014-12-21T07:24:13Z

←Older revision		Revision as of 07:24, 21 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_2m74\| PDB=2m74 \| SCENE= }}~~	+	==1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1==
-	===1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1===	+	<StructureSection load='2m74' size='340' side='right' caption='[[2m74]], [[NMR_Ensembles_of_Models \| 20 NMR models]]' scene=''>
-	~~{{ABSTRACT_PUBMED_24035709}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[2m74]] 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=2M74 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M74 FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">FBN, FBN1 ([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=2m74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m74 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2m74 RCSB], [http://www.ebi.ac.uk/pdbsum/2m74 PDBsum]</span></td></tr>
		+	</table>
		+	== Disease ==
	[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[http://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[http://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[http://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[http://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[http://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[http://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[http://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[http://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>		[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[http://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[http://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[http://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[http://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[http://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[http://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[http://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[http://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>
-		+	== Function ==
-	==Function==	+
	[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>		[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	The human extracellular matrix glycoprotein fibrillin-1 is the primary component of the 10- to 12-nm-diameter microfibrils, which perform key structural and regulatory roles in connective tissues. Relatively little is known about the molecular mechanisms of fibrillin assembly into microfibrils. Studies using recombinant fibrillin fragments indicate that an interaction between the N- and C-terminal regions drives head-to-tail assembly. Here, we present the structure of a fibrillin N-terminal fragment comprising the fibrillin unique N-terminal (FUN) and the first three epidermal growth factor (EGF)-like domains (FUN-EGF3). Two rod-like domain pairs are separated by a short, flexible linker between the EGF1 and EGF2 domains. We also show that the binding site for the C-terminal region spans multiple domains and overlaps with a heparin interaction site. These data suggest that heparan sulfate may sequester fibrillin at the cell surface via FUN-EGF3 prior to aggregation of the C terminus, thereby regulating microfibril assembly.

-	~~==About this~~ Structure==	+	Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril Assembly.,Yadin DA, Robertson IB, McNaught-Davis J, Evans P, Stoddart D, Handford PA, Jensen SA, Redfield C Structure. 2013 Sep 10. pii: S0969-2126(13)00295-5. doi:, 10.1016/j.str.2013.08.004. PMID:24035709<ref>PMID:24035709</ref>
-	~~[[2m74]] 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=2M74 OCA]~~.	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:024035709</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Human]]		[[Category: Human]]
-	[[Category: Handford, P A.]]	+	[[Category: Handford, P A]]
-	[[Category: Jensen, S A.]]	+	[[Category: Jensen, S A]]
-	[[Category: Redfield, C.]]	+	[[Category: Redfield, C]]
-	[[Category: Robertson, I B.]]	+	[[Category: Robertson, I B]]
-	[[Category: Yadin, D A.]]	+	[[Category: Yadin, D A]]
	[[Category: Structural protein]]		[[Category: Structural protein]]

OCA at 12:04, 20 November 2013

2013-11-20T12:04:48Z

←Older revision		Revision as of 12:04, 20 November 2013
Line 10:		Line 10:

	==About this Structure==		==About this Structure==
-	[[2m74]] 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=2M74 OCA].	+	[[2m74]] 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=2M74 OCA].

	==Reference==		==Reference==
	<ref group="xtra">PMID:024035709</ref><references group="xtra"/><references/>		<ref group="xtra">PMID:024035709</ref><references group="xtra"/><references/>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Handford, P A.]]		[[Category: Handford, P A.]]
	[[Category: Jensen, S A.]]		[[Category: Jensen, S A.]]

OCA at 08:08, 29 September 2013

2013-09-29T08:08:41Z

←Older revision		Revision as of 08:08, 29 September 2013
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	{{STRUCTURE_2m74\| PDB=2m74 \| SCENE= }}
		+	===1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1===
		+	{{ABSTRACT_PUBMED_24035709}}

-	The entry ~~2m74~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:[http://omim.org/entry/154700 154700]]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Note=The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.<ref>PMID:15221638</ref> <ref>PMID:1852208</ref> <ref>PMID:1301946</ref> <ref>PMID:1569206</ref> <ref>PMID:8406497</ref> <ref>PMID:8504310</ref> <ref>PMID:8281141</ref> <ref>PMID:7977366</ref> <ref>PMID:8004112</ref> <ref>PMID:8040326</ref> <ref>PMID:8071963</ref> <ref>PMID:7870075</ref> <ref>PMID:8136837</ref> <ref>PMID:7611299</ref> <ref>PMID:7738200</ref> <ref>PMID:8882780</ref> <ref>PMID:8863159</ref> <ref>PMID:9254848</ref> <ref>PMID:9338581</ref> <ref>PMID:9837823</ref> <ref>PMID:9452085</ref> <ref>PMID:10694921</ref> <ref>PMID:10441597</ref> <ref>PMID:10425041</ref> <ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:14695540</ref> <ref>PMID:15161917</ref> <ref>PMID:16222657</ref> <ref>PMID:16220557</ref> <ref>PMID:20803651</ref> <ref>PMID:21542060</ref> Defects in FBN1 are a cause of ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:[http://omim.org/entry/129600 129600]]. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.<ref>PMID:11700157</ref> <ref>PMID:12203992</ref> <ref>PMID:11826022</ref> <ref>PMID:8188302</ref> Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [MIM:[http://omim.org/entry/608328 608328]]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.<ref>PMID:12525539</ref> Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:[http://omim.org/entry/182212 182212]]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.[:] Defects in FBN1 are a cause of overlap connective tissue disease (OCTD) [MIM:[http://omim.org/entry/604308 604308]]. A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.<ref>PMID:2739055</ref> Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:[http://omim.org/entry/184900 184900]]. It is a syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.<ref>PMID:20375004</ref> Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:[http://omim.org/entry/614185 614185]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.<ref>PMID:21683322</ref> Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:[http://omim.org/entry/102370 102370]]. An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.<ref>PMID:21683322</ref>

-	~~Authors~~: ~~Yadin, D~~.A., ~~Robertson, I~~.B., ~~Jensen, S.A., Handford, P.A., Redfield, C~~.	+	==Function==
		+	[[http://www.uniprot.org/uniprot/FBN1_HUMAN FBN1_HUMAN]] Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).<ref>PMID:15062093</ref>

-	~~Description~~: ~~1H, 13C and 15N assignments of the four N~~-~~terminal domains of human fibrillin-1~~	+	==About this Structure==
		+	[[2m74]] 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=2M74 OCA].
		+
		+	==Reference==
		+	<ref group="xtra">PMID:024035709</ref><references group="xtra"/><references/>
		+	[[Category: Homo sapiens]]
		+	[[Category: Handford, P A.]]
		+	[[Category: Jensen, S A.]]
		+	[[Category: Redfield, C.]]
		+	[[Category: Robertson, I B.]]
		+	[[Category: Yadin, D A.]]
		+	[[Category: Structural protein]]

OCA at 06:59, 8 May 2013

2013-05-08T06:59:21Z

←Older revision		Revision as of 06:59, 8 May 2013
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 2m74 is ON HOLD	+	The entry 2m74 is ON HOLD until Paper Publication

	Authors: Yadin, D.A., Robertson, I.B., Jensen, S.A., Handford, P.A., Redfield, C.		Authors: Yadin, D.A., Robertson, I.B., Jensen, S.A., Handford, P.A., Redfield, C.

	Description: 1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1		Description: 1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1

OCA: Protected "2m74" [edit=sysop:move=sysop]

2013-04-24T10:38:07Z

Protected "2m74" [edit=sysop:move=sysop]

←Older revision

Revision as of 10:38, 24 April 2013

OCA: New page: '''Unreleased structure''' The entry 2m74 is ON HOLD Authors: Yadin, D.A., Robertson, I.B., Jensen, S.A., Handford, P.A., Redfield, C. Description: 1H, 13C and 15N assignments of the f...

2013-04-24T10:38:06Z

New page: '''Unreleased structure''' The entry 2m74 is ON HOLD Authors: Yadin, D.A., Robertson, I.B., Jensen, S.A., Handford, P.A., Redfield, C. Description: 1H, 13C and 15N assignments of the f...

New page

'''Unreleased structure'''

The entry 2m74 is ON HOLD

Authors: Yadin, D.A., Robertson, I.B., Jensen, S.A., Handford, P.A., Redfield, C.

Description: 1H, 13C and 15N assignments of the four N-terminal domains of human fibrillin-1