2m51

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'''Unreleased structure'''
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{{STRUCTURE_2m51| PDB=2m51 | SCENE= }}
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===NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1===
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The entry 2m51 is ON HOLD
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==Disease==
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[[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.
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Authors: Dutta, S.K., Serrano, P., Geralt, M., Wuthrich, K., Joint Center for Structural Genomics (JCSG), Partnership for T-Cell Biology (TCELL)
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==Function==
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[[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>
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Description: NMR structure of the SH3 domain of human RAS p21 protein activator (GTPase activating protein) 1
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==About this Structure==
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[[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].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Homo sapiens]]
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[[Category: Dutta, S K.]]
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[[Category: Geralt, M.]]
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[[Category: JCSG, Joint Center for Structural Genomics.]]
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[[Category: Serrano, P.]]
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[[Category: TCELL, Partnership for T-Cell Biology.]]
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[[Category: Wuthrich, K.]]
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[[Category: Protein binding]]
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[[Category: Sh3 domain of ras gap1]]

Revision as of 08:52, 27 March 2013

Template:STRUCTURE 2m51

Contents

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

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]

About this Structure

2m51 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  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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