GNB5
entrez
10681
canonical
uniprot
O14775
canonical
ensembl
ENSG00000069966
resolver
ensp
ENSP00000261837
resolver
ensp
ENSP00000351635
resolver
genesymbol
GNB5
resolver
hgnc
HGNC:4401
resolver
uniprot
B2RBR5
resolver
uniprot
Q9HAU9
resolver
uniprot
Q9UFT3
resolver
uniprot_entry
GNB5_HUMAN
resolver
uniprot_sec
B2RBR5
resolver
uniprot_sec
Q9HAU9
resolver
uniprot_sec
Q9UFT3
resolver
amino_acid_sequence
MCDQTFLVNVFGSCDKCFKQRALRPVFKKSQQLSYCSTCAEIMATEGLHENETLASLKSEAESLKGKLEEERAKLHDVELHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVSSSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADVLCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRVSILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA
uniprot
proteins
disease_involvement
DISEASE: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (LDMLS1) [MIM:617173]: 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. {ECO:0000269|PubMed:27523599}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (LDMLS2) [MIM:617182]: 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. {ECO:0000269|PubMed:27523599, ECO:0000269|PubMed:27677260}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:A1L271, ECO:0000250|UniProtKB:P62881, ECO:0000269|PubMed:27677260}.
uniprot
proteins
mass_dalton
43566
uniprot
proteins
protein_family
WD repeat G protein beta family
uniprot
proteins
pubmed
10339615
uniprot
proteins
pubmed
10521509
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27523599
uniprot
proteins
pubmed
27677260
uniprot
proteins
pubmed
34815401
uniprot
proteins
pubmed
9606987
uniprot
proteins
sequence_length
395
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P62881}.
uniprot
proteins