1x3b

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[[Image:1x3b.gif|left|200px]]
 
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{{Structure
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==Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3==
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|PDB= 1x3b |SIZE=350|CAPTION= <scene name='initialview01'>1x3b</scene>
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<StructureSection load='1x3b' size='340' side='right'caption='[[1x3b]]' scene=''>
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|SITE=
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== Structural highlights ==
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|LIGAND=
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<table><tr><td colspan='2'>[[1x3b]] 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=1X3B OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1X3B FirstGlance]. <br>
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|ACTIVITY=
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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|GENE= TGFBI ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1x3b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x3b OCA], [https://pdbe.org/1x3b PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1x3b RCSB], [https://www.ebi.ac.uk/pdbsum/1x3b PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1x3b ProSAT], [https://www.topsan.org/Proteins/RSGI/1x3b TOPSAN]</span></td></tr>
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|DOMAIN=
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</table>
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|RELATEDENTRY=
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== Disease ==
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|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1x3b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x3b OCA], [http://www.ebi.ac.uk/pdbsum/1x3b PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=1x3b RCSB]</span>
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[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN] Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:[https://omim.org/entry/121820 121820]; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified.<ref>PMID:16652336</ref> Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:[https://omim.org/entry/121900 121900]; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap.<ref>PMID:15623763</ref> Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:[https://omim.org/entry/122200 122200]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:[https://omim.org/entry/602082 602082]; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:[https://omim.org/entry/608470 608470]; also known as corneal dystrophy of Bowman layer type 1 (CDB1).<ref>PMID:15623763</ref> <ref>PMID:9780098</ref> <ref>PMID:10660331</ref> Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:[https://omim.org/entry/608471 608471]. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.<ref>PMID:9497262</ref> <ref>PMID:15790870</ref> Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:[https://omim.org/entry/607541 607541]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.
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}}
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== Function ==
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[https://www.uniprot.org/uniprot/BGH3_HUMAN BGH3_HUMAN] Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
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'''Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3'''
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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==Disease==
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<jmolCheckbox>
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Known disease associated with this structure: Corneal dystrophy, Avellino type OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, Groenouw type I OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, Reis-Bucklers type OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, Thiel-Behnke type OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, epithelial basement membrane OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, lattice type I OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]], Corneal dystrophy, lattice type IIIA OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692 601692]]
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/x3/1x3b_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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==About this Structure==
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<text>to colour the structure by Evolutionary Conservation</text>
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1X3B is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X3B OCA].
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</jmolCheckbox>
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</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=1x3b ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
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[[Category: Large Structures]]
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[[Category: Inoue, M.]]
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[[Category: Inoue M]]
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[[Category: Kigawa, T.]]
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[[Category: Kigawa T]]
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[[Category: Koshiba, S.]]
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[[Category: Koshiba S]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Tochio N]]
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[[Category: Tochio, N.]]
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[[Category: Tomizawa T]]
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[[Category: Tomizawa, T.]]
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[[Category: Yokoyama S]]
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[[Category: Yokoyama, S.]]
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[[Category: Yoneyama M]]
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[[Category: Yoneyama, M.]]
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[[Category: beta ig-h3]]
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[[Category: cell adhesion protein]]
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[[Category: extracellular matrix protein]]
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[[Category: fas1 domain]]
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[[Category: fasciclin]]
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[[Category: integrin-interacting motif]]
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[[Category: national project on protein structural and functional analyse]]
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[[Category: nppsfa]]
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[[Category: riken structural genomics/proteomics initiative]]
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[[Category: rsgi]]
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[[Category: structural genomic]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 00:44:20 2008''
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Current revision

Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3

PDB ID 1x3b

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