3t1n
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[3t1n]] is a 4 chain structure with 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=3T1N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3T1N FirstGlance]. <br> | <table><tr><td colspan='2'>[[3t1n]] is a 4 chain structure with 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=3T1N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3T1N FirstGlance]. <br> | ||
- | </td></tr><tr><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=SEP:PHOSPHOSERINE'>SEP</scene></td></tr> | + | </td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=SEP:PHOSPHOSERINE'>SEP</scene></td></tr> |
- | <tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MCPH1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MCPH1 ([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=3t1n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3t1n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3t1n RCSB], [http://www.ebi.ac.uk/pdbsum/3t1n 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=3t1n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3t1n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3t1n RCSB], [http://www.ebi.ac.uk/pdbsum/3t1n PDBsum]</span></td></tr> |
- | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[http://omim.org/entry/251200 251200]]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> | [[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[http://omim.org/entry/251200 251200]]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> | ||
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Molecular basis for the association of microcephalin (MCPH1) with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex.,Singh N, Wiltshire T, Thompson JR, Mer G, Couch FJ J Biol Chem. 2011 Dec 2. PMID:22139841<ref>PMID:22139841</ref> | Molecular basis for the association of microcephalin (MCPH1) with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex.,Singh N, Wiltshire T, Thompson JR, Mer G, Couch FJ J Biol Chem. 2011 Dec 2. PMID:22139841<ref>PMID:22139841</ref> | ||
- | From | + | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> |
</div> | </div> | ||
== References == | == References == | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
- | [[Category: Mer, G | + | [[Category: Mer, G]] |
- | [[Category: Singh, N | + | [[Category: Singh, N]] |
- | [[Category: Thompson, J R | + | [[Category: Thompson, J R]] |
[[Category: Cell cycle regulation]] | [[Category: Cell cycle regulation]] | ||
[[Category: Cell cycle-peptide complex]] | [[Category: Cell cycle-peptide complex]] |
Revision as of 11:03, 4 January 2015
Structure of human MICROCEPHALIN (MCPH1) TANDEM BRCT domains in complex with a CDC27 phosphopeptide
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