3maz

Structural highlights

Disease

[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.^{[1] [2] [3]}

Function

[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.^[4] [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.^{[5] [6] [7]}

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

1. ↑ Doyle JL, DeSilva U, Miller W, Green ED. Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet. 2000;90(3-4):285-90. PMID:11124535
2. ↑ Martindale DW, Wilson MD, Wang D, Burke RD, Chen X, Duronio V, Koop BF. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Mamm Genome. 2000 Oct;11(10):890-8. PMID:11003705
3. ↑ Doyle JL, DeSilva U, Miller W, Green ED. Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet. 2000;90(3-4):285-90. PMID:11124535
4. ↑ Ohya K, Kajigaya S, Kitanaka A, Yoshida K, Miyazato A, Yamashita Y, Yamanaka T, Ikeda U, Shimada K, Ozawa K, Mano H. Molecular cloning of a docking protein, BRDG1, that acts downstream of the Tec tyrosine kinase. Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11976-81. PMID:10518561
5. ↑ Brdicka T, Imrich M, Angelisova P, Brdickova N, Horvath O, Spicka J, Hilgert I, Luskova P, Draber P, Novak P, Engels N, Wienands J, Simeoni L, Osterreicher J, Aguado E, Malissen M, Schraven B, Horejsi V. Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling. J Exp Med. 2002 Dec 16;196(12):1617-26. PMID:12486104
6. ↑ Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W. LAB: a new membrane-associated adaptor molecule in B cell activation. Nat Immunol. 2003 Feb;4(2):117-23. Epub 2003 Jan 6. PMID:12514734 doi:10.1038/ni882
7. ↑ Tkaczyk C, Horejsi V, Iwaki S, Draber P, Samelson LE, Satterthwaite AB, Nahm DH, Metcalfe DD, Gilfillan AM. NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation. Blood. 2004 Jul 1;104(1):207-14. Epub 2004 Mar 9. PMID:15010370 doi:10.1182/blood-2003-08-2769
8. ↑ Kaneko T, Huang H, Zhao B, Li L, Liu H, Voss CK, Wu C, Schiller MR, Li SS. Loops govern SH2 domain specificity by controlling access to binding pockets. Sci Signal. 2010 May 4;3(120):ra34. PMID:20442417 doi:3/120/ra34