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FLASH GENE

Symbol

GNB1

contributors: mct/npt - updated : 01-06-2016

HGNC name	guanine nucleotide binding protein (G protein), beta polypeptide 1
HGNC id	4396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue     highly Endocrine neuroendocrine pituitary     highly Gustatory (taste) tongue taste buds       Reproductive female system ovary     highly Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose brown   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal alpha-helical segment
	seven WD (Trp-Asp) repeats, forming a propeller structure

HOMOLOGY

Homologene

FAMILY

WD repeat G protein beta family

CATEGORY

regulatory , receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction
	GNB1, GNG2 subunits of heterotrimeric G proteins are activators of ARHGEF18 under physiological conditions
	GNB1-mediated FYN activation integrates PTK2 with adherens junctions, preventing persistent endothelial barrier leakiness
	GNB1/GNG2 subunits of heterotrimeric G proteins regulate cell-matrix adhesiveness by activating RAP1A-dependent inside-out signals and integrin activation
	required for normal embryonic neurogenesis
	during primordial germ cells migration GNB1, GNG2 signaling regulates RAC1 activity to control cell polarity, which is required for the responsiveness to chemokine signaling
	GNB1 plays likely an important role in the MTOR-related anti-apoptosis pathway
	PDE6G with RHO, GNAT1, GNB1, are active in phototransduction in rods only

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/taste

a component	forming with G gamma a dimer associating with G alpha subunit
	complexing with NDPKB
	GNB1/GNG2 subunits enter in a protein complex with activated RAP1A and its effector RADIL and this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness

INTERACTION

DNA

RNA

small molecule

protein	ataxin 10 required for neuritogenesis induction
	comigrating with the glucocorticoid receptor to the nucleus and suppressing the GR-induced transactivation of glucocorticoid responsive genes
	G beta 2 gamma2 dimer inhibiting the low voltage-activated Ca (2) channels
	novel functions of ARRB1 in binding to the GNB1/GNG2 subunits of heterotrimeric G-proteins and promoting GNB-mediated Akt signalling GNB1/GNG2 for NF-kappaB activation
	KCNJ6 is capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5
	crosstalk of Ca 2+ signaling between GNB1/GNG2 and RAPGEF3 in melanoma, which plays a role in regulation of cell migration
	WDR26 is a novel GNG2/GNB1-binding protein that is required for the efficacy of GNG2/GNB1 signaling and leukocyte migration
	is a novel RP2 interaction partner (RP2 specifically binds GNB1 and facilitates membrane association)
	interacts with multiple genes encoding disease-associated Galpha subunits, including GNAO1, GNAI3, GNAT2, GNAS GNAL, GNAQ and GNA11

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRD42

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function GNB1 and GNB2 alterations confer transformed and resistance phenotypes across a range of human tumors and may be targetable with inhibitors of G protein signaling

Susceptibility

Variant & Polymorphism

Candidate gene	GNB1 is a good candidate for playing a causal role in 1p36.33 deletion syndrome
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast can potentially be targeted in the treatment of breast cancer

ANIMAL & CELL MODELS

Gbeta1(-/-) embryos developed neural tube defects (NTDs) and abnormal actin organization was observed in the basal side of neuroepithelium, and also microencephaly and died within 2 days after birth