Homo Sapiens (Humans) 1.It has been associated with
pseudohypoparathyroidism type 1B. Losing this gene causes loss of methylation at
GNAS1 exon A/B. In short, the deletion of STX16 disrupts a
putative “imprinting control element” needed for correct GNAS methylation, and loss of methylation at exon A/B is the molecular hallmark linking STX16 deletions to PHP-1B. Researchers were able to identify binding partners for the C-terminal “PH-Like” domain of TBC1D23 by using
Affinity chromatography and
Mass Spectrometry, by doing so they discovered that the cytoplasmic tail of STX16 is able to interact with TBC1D23. It was identified that fragments of STX16 ~151-225
amino acids are both necessary and sufficient for them to interact, establishing a direct binding between TBC1D23 and STX16. To comprehend their binding, researchers created a 3D structure of the end of TBC1D23 bound to a small piece of STX16. They found that this short segment of STX16 fits tightly along the surface of TBC1D23, slotting two of its amino acids into small pockets and forming additional charge based interactions. This close fit explains why the two proteins are able to specifically recognize each other. Overall this interconnection between proteins displayed an important role in how cells transport materials. When researchers modified the binding parts of with TBC1D23 or STX16, vesicles were no longer able to properly be captured and directed to the golgi. This outcome indicated that TBC1D23 is acting like a “tether,” that helps the golgi catch incoming vesicles by attaching to STX16 in order to secure cargo being delivered to and from the right place before membrane fusion occurs
STX16 Molecular Functions • Protein binding • Syntaxin binding • SNAP receptor activity • SNARE binding
Cellular locations where the STX16 product is active • Golgi membrane • Golgi apparatus • trans-Golgi network • perinuclear region of cytoplasm • focal adhesion • cytoplasm • intracellular membrane-bounded organelle • SNARE complex • cytosol • endomembrane system • synaptic vesicle membrane • Golgi cisterna • trans-Golgi network membrane == References ==