3maz: Difference between revisions
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{{STRUCTURE_3maz| PDB=3maz | SCENE= }} | {{STRUCTURE_3maz| PDB=3maz | SCENE= }} | ||
===Crystal Structure of the Human BRDG1/STAP-1 SH2 Domain in Complex with the NTAL pTyr136 Peptide=== | ===Crystal Structure of the Human BRDG1/STAP-1 SH2 Domain in Complex with the NTAL pTyr136 Peptide=== | ||
{{ABSTRACT_PUBMED_20442417}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/NTAL_HUMAN NTAL_HUMAN]] Williams syndrome. Note=LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.<ref>PMID:11124535</ref> <ref>PMID:11003705</ref> <ref>PMID:11124535</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/STAP1_HUMAN STAP1_HUMAN]] In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.<ref>PMID:10518561</ref> [[http://www.uniprot.org/uniprot/NTAL_HUMAN NTAL_HUMAN]] Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.<ref>PMID:12486104</ref> <ref>PMID:12514734</ref> <ref>PMID:15010370</ref> | |||
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==About this Structure== | ==About this Structure== | ||
[[3maz]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3MAZ OCA]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:020442417</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Huang, H.]] | [[Category: Huang, H.]] | ||
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[[Category: Wu, C.]] | [[Category: Wu, C.]] | ||
[[Category: Zhao, B.]] | [[Category: Zhao, B.]] | ||
[[Category: Modular domain]] | [[Category: Modular domain]] | ||
[[Category: Phosphoprotein]] | [[Category: Phosphoprotein]] | ||
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[[Category: Signaling protein]] | [[Category: Signaling protein]] | ||
[[Category: Specificity]] | [[Category: Specificity]] | ||