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{{STRUCTURE_2m51|  PDB=2m51  |  SCENE=  }}
==NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1==
===NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1===
<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>
</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='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>
</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> 


==Disease==
==See Also==
[[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.
*[[Ras GTPase activating protein|Ras GTPase activating protein]]
 
== References ==
==Function==
<references/>
[[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>
__TOC__
 
</StructureSection>
==About this Structure==
[[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].
 
==Reference==
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Dutta, S K.]]
[[Category: Dutta, S K]]
[[Category: Geralt, M.]]
[[Category: Geralt, M]]
[[Category: JCSG, Joint Center for Structural Genomics.]]
[[Category: Structural genomic]]
[[Category: Serrano, P.]]
[[Category: Serrano, P]]
[[Category: TCELL, Partnership for T-Cell Biology.]]
[[Category: TCELL, Partnership for T-Cell Biology]]
[[Category: Wuthrich, K.]]
[[Category: Wuthrich, K]]
[[Category: Protein binding]]
[[Category: Protein binding]]
[[Category: Sh3 domain of ras gap1]]
[[Category: Sh3 domain of ras gap1]]

Revision as of 00:16, 4 January 2015

NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1NMR 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 Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:RASA1, RASA (Homo sapiens)
Resources:FirstGlance, OCA, 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]

See Also

References

  1. ↑ 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
  2. ↑ 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
  3. ↑ 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
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