2gqi: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2gqi]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2GQI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2GQI FirstGlance]. <br> | <table><tr><td colspan='2'>[[2gqi]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2GQI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2GQI FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">RASA1, RASA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">RASA1, RASA ([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=2gqi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2gqi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2gqi RCSB], [http://www.ebi.ac.uk/pdbsum/2gqi PDBsum], [http://www.topsan.org/Proteins/RSGI/2gqi 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=2gqi FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2gqi OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2gqi RCSB], [http://www.ebi.ac.uk/pdbsum/2gqi PDBsum], [http://www.topsan.org/Proteins/RSGI/2gqi TOPSAN]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == 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. | [[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. | ||
| Line 28: | Line 28: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F | [[Category: Hayashi, F]] | ||
[[Category: Kurosaki, C | [[Category: Kurosaki, C]] | ||
[[Category: | [[Category: Structural genomic]] | ||
[[Category: Yokoyama, S | [[Category: Yokoyama, S]] | ||
[[Category: Yoshida, M | [[Category: Yoshida, M]] | ||
[[Category: Gap]] | [[Category: Gap]] | ||
[[Category: Gtpase-activating protein]] | [[Category: Gtpase-activating protein]] | ||
| Line 40: | Line 40: | ||
[[Category: Ras p21 protein activator]] | [[Category: Ras p21 protein activator]] | ||
[[Category: Rasgap]] | [[Category: Rasgap]] | ||
[[Category: Rsgi]] | [[Category: Rsgi]] | ||
[[Category: Signaling protein]] | [[Category: Signaling protein]] | ||