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  Domain Name: G-alpha
Alpha subunit of G proteins (guanine nucleotide binding). The alpha subunit of G proteins contains the guanine nucleotide binding site. The heterotrimeric GNP-binding proteins are signal transducers that communicate signals from many hormones, neurotransmitters, chemokines, and autocrine and paracrine factors. Extracellular signals are received by receptors, which activate the G proteins, which in turn route the signals to several distinct intracellular signaling pathways. The alpha subunit of G proteins is a weak GTPase. In the resting state, heterotrimeric G proteins are associated at the cytosolic face of the plasma membrane and the alpha subunit binds to GDP. Upon activation by a receptor GDP is replaced with GTP, and the G-alpha/GTP complex dissociates from the beta and gamma subunits. This results in activation of downstream signaling pathways, such as cAMP synthesis by adenylyl cyclase, which is terminated when GTP is hydrolized and the heterotrimers reconstitute.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 22
Total Disease Mutations Found: 16
This domain occurred 13 times on human genes (35 proteins).



  CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, INCLUDED
  DYSTONIA 25
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
  HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
  HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
  STURGE-WEBER SYNDROME, SOMATIC, MOSAIC


Tips:
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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
GTP/Mg2+ binding site
adenylyl cyclase interact
beta - gamma complex inte
GoLoco binding site
putative receptor binding
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box






























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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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