背景
This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015],
功能
function:Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi.,similarity:Contains 1 BAR domain.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 6 SH3 domains.,subcellular location:Localized to synapses and Golgi stacks.,subunit:Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin-regulatory proteins, such as ENAH, EVL, WASL, WIRE, CR16, WAVE1 and NAP1L1.,tissue specificity:Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.,
