2of5: Difference between revisions

<StructureSection load='2of5' size='340' side='right' caption='[[2of5]], [[Resolution|resolution]] 3.20&Aring;' scene=''>

<table><tr><td colspan='2'>[[2of5]] is a 12 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2OF5 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2OF5 FirstGlance]. <br>

</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CRADD, RAIDD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), LRDD, PIDD ([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=2of5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2of5 OCA], [http://pdbe.org/2of5 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2of5 RCSB], [http://www.ebi.ac.uk/pdbsum/2of5 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2of5 ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/CRADD_HUMAN CRADD_HUMAN]] Defects in CRADD are the cause of mental retardation autosomal recessive type 34 (MRT34) [MIM:[http://omim.org/entry/614499 614499]]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.<ref>PMID:22279524</ref>   

[[http://www.uniprot.org/uniprot/CRADD_HUMAN CRADD_HUMAN]] Apoptotic adaptor molecule specific for caspase-2 and FASL/TNF receptor-interacting protein RIP. In the presence of RIP and TRADD, CRADD recruits caspase-2 to the TNFR-1 signalling complex. [[http://www.uniprot.org/uniprot/PIDD_HUMAN PIDD_HUMAN]] Promotes apoptosis downstream of the tumor suppressor as component of the DNA damage/stress response pathway that connects p53/TP53 to apoptosis. Associates with NEMO/IKBKG and RIP1 and enhances sumoylation and ubiquitination of NEMO/IKBKG which is important for activation of the transcription factor NF-kappa-B. Associates with CASP2/caspase-2 and CRADD/RAIDD, and induces activation of CASP2 which an important regulator in apoptotic pathways.<ref>PMID:10973264</ref> <ref>PMID:15073321</ref> <ref>PMID:16360037</ref>