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| | ==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase== | | ==Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase== |
| - | <StructureSection load='2ejm' size='340' side='right' caption='[[2ejm]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2ejm' size='340' side='right'caption='[[2ejm]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2ejm]] 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=2EJM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EJM FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2ejm]] 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=2EJM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EJM FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MCCC1, MCCA ([http://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='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Methylcrotonoyl-CoA_carboxylase Methylcrotonoyl-CoA carboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.4.1.4 6.4.1.4] </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=2ejm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ejm OCA], [https://pdbe.org/2ejm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ejm RCSB], [https://www.ebi.ac.uk/pdbsum/2ejm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ejm ProSAT], [https://www.topsan.org/Proteins/RSGI/2ejm 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=2ejm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ejm OCA], [http://pdbe.org/2ejm PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2ejm RCSB], [http://www.ebi.ac.uk/pdbsum/2ejm PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2ejm ProSAT], [http://www.topsan.org/Proteins/RSGI/2ejm TOPSAN]</span></td></tr> | + | |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN]] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[http://omim.org/entry/210200 210200]]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref> <ref>PMID:11406611</ref> <ref>PMID:11181649</ref> <ref>PMID:22150417</ref> | + | [https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[https://omim.org/entry/210200 210200]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref> <ref>PMID:11406611</ref> <ref>PMID:11181649</ref> <ref>PMID:22150417</ref> |
| | + | == Function == |
| | + | [https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] |
| | == Evolutionary Conservation == | | == Evolutionary Conservation == |
| | [[Image:Consurf_key_small.gif|200px|right]] | | [[Image:Consurf_key_small.gif|200px|right]] |
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| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Methylcrotonoyl-CoA carboxylase]] | + | [[Category: Large Structures]] |
| - | [[Category: Hayashi, F]] | + | [[Category: Hayashi F]] |
| - | [[Category: Hirota, H]] | + | [[Category: Hirota H]] |
| - | [[Category: Momen, A Z.M Ruhul]] | + | [[Category: Ruhul Momen AZM]] |
| - | [[Category: Structural genomic]]
| + | [[Category: Yokoyama S]] |
| - | [[Category: Yokoyama, S]] | + | |
| - | [[Category: Actyl coa carboxylase]]
| + | |
| - | [[Category: Biotin]]
| + | |
| - | [[Category: Biotin-requiring enzyme]]
| + | |
| - | [[Category: Fatty acid synthesis]]
| + | |
| - | [[Category: Ligase]]
| + | |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| Structural highlights
Disease
MCCA_HUMAN Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.[1] [2] [3] [4]
Function
MCCA_HUMAN
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Gallardo ME, Desviat LR, Rodriguez JM, Esparza-Gordillo J, Perez-Cerda C, Perez B, Rodriguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Cordoba SR, Ugarte M, Penalva MA. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17. PMID:11170888 doi:S0002-9297(07)64086-5
- ↑ Holzinger A, Roschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. PMID:11406611
- ↑ Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001 Feb;107(4):495-504. PMID:11181649 doi:10.1172/JCI11948
- ↑ Cho SY, Park HD, Lee YW, Ki CS, Lee SY, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Lee DH, Jin DK. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Clin Genet. 2012 Jan;81(1):96-8. doi: 10.1111/j.1399-0004.2011.01704.x. PMID:22150417 doi:10.1111/j.1399-0004.2011.01704.x
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