Guanine nucleotide-binding protein subunit beta-5
Function
Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (PubMed:27677260). Increases RGS7 GTPase-activating protein (GAP) activity, thereby regulating mood and cognition (By similarity). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).
Involvement in disease
Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia
LDMLS1
An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux.
None
The disease is caused by variants affecting the gene represented in this entry.
Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia
LDMLS2
An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit-hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat G protein beta family.
Tissue Specificity
Widely expressed.
Cellular localization
- Membrane
Alternative names
Guanine nucleotide-binding protein subunit beta-5, Gbeta5, Transducin beta chain 5, GNB5