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2m51

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Revision as of 13:15, 10 September 2015

NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1

Structural highlights

2m51 is a 1 chain structure with sequence from Human. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Related:	4fss, 2j05, 2j06, 2gqi
Gene:	RASA1, RASA (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum

Disease

[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: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.^[1] Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM: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

[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.^[2] ^[3]

References

↑ Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003 Dec;73(6):1240-9. Epub 2003 Nov 24. PMID:14639529 doi:S0002-9297(07)63977-9
↑ Zhang Y, Zhang G, Mollat P, Carles C, Riva M, Frobert Y, Malassine A, Rostene W, Thang DC, Beltchev B, et al.. Purification, characterization, and cellular localization of the 100-kDa human placental GTPase-activating protein. J Biol Chem. 1993 Sep 5;268(25):18875-81. PMID:8360177
↑ Giglione C, Gonfloni S, Parmeggiani A. Differential actions of p60c-Src and Lck kinases on the Ras regulators p120-GAP and GDP/GTP exchange factor CDC25Mm. Eur J Biochem. 2001 Jun;268(11):3275-83. PMID:11389730

1 Structural highlights
2 Disease
3 Function
4 See Also
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2m51"

@@ Line 2: / Line 2: @@
 <StructureSection load='2m51' size='340' side='right' caption='[[2m51]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[2m51]] 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=2M51 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M51 FirstGlance]. <br>
+<table><tr><td colspan='2'>[[2m51]] 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=2M51 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2M51 FirstGlance]. <br>
 </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4fss|4fss]], [[2j05|2j05]], [[2j06|2j06]], [[2gqi|2gqi]]</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 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 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=2m51 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m51 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2m51 RCSB], [http://www.ebi.ac.uk/pdbsum/2m51 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=2m51 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2m51 OCA], [http://pdbe.org/2m51 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2m51 RCSB], [http://www.ebi.ac.uk/pdbsum/2m51 PDBsum]</span></td></tr>
 </table>
 == Disease ==
@@ Line 18: / Line 18: @@
 __TOC__
 </StructureSection>
-[[Category: Homo sapiens]]
+[[Category: Human]]
 [[Category: Dutta, S K]]
 [[Category: Geralt, M]]

2m51

From Proteopedia

Revision as of 13:15, 10 September 2015

NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1

Structural highlights

Disease

Function

See Also

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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