6pxb
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==N-Terminal SH2 domain of the p120RasGAP== | |
| - | + | <StructureSection load='6pxb' size='340' side='right'caption='[[6pxb]], [[Resolution|resolution]] 1.75Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[6pxb]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6PXB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6PXB FirstGlance]. <br> | |
| - | + | </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=6pxb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6pxb OCA], [http://pdbe.org/6pxb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6pxb RCSB], [http://www.ebi.ac.uk/pdbsum/6pxb PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6pxb ProSAT]</span></td></tr> | |
| - | [[Category: | + | </table> |
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas. Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:[http://omim.org/entry/608354 608354]]. CMAVM is a disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.<ref>PMID:14639529</ref> Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:[http://omim.org/entry/608355 608355]]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb. | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.<ref>PMID:8360177</ref> <ref>PMID:11389730</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Boggon, T J]] | ||
| + | [[Category: Chehayeb, R Jaber]] | ||
| + | [[Category: Stiegler, A L]] | ||
| + | [[Category: Sh2 gtpase activating proteins ras pathway signaling protein]] | ||
| + | [[Category: Signaling protein]] | ||
Revision as of 07:46, 18 December 2019
N-Terminal SH2 domain of the p120RasGAP
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