GNB1 (G protein subunit beta 1)

2003-05-01 Affiliation

Identity

HGNC

GNB1

LOCATION

1p36.33

LOCUSID

2782

ALIAS

MDS,MRD42

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2782
MIM: 139380
HGNC: 4396
Ensembl: ENSG00000078369

Variants:

dbSNP: 2782
ClinVar: 2782
TCGA: ENSG00000078369
COSMIC: GNB1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000078369	ENST00000378609	P62873
ENSG00000078369	ENST00000378609	A0A024R056
ENSG00000078369	ENST00000434686	F6UT28
ENSG00000078369	ENST00000437146	B1AKQ8
ENSG00000078369	ENST00000439272	F6X3N5
ENSG00000078369	ENST00000610897	P62873
ENSG00000078369	ENST00000610897	A0A024R056
ENSG00000078369	ENST00000615252	B3KVK2

Expression (GTEx)

100

150

200

250

300

350

400

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Olfactory transduction	KEGG	ko04740
Olfactory transduction	KEGG	hsa04740
Pathways in cancer	KEGG	hsa05200
Chemokine signaling pathway	KEGG	ko04062
Chemokine signaling pathway	KEGG	hsa04062
Phototransduction	KEGG	ko04744
Phototransduction	KEGG	hsa04744
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Ras signaling pathway	KEGG	hsa04014
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Activation of Kainate Receptors upon glutamate binding	REACTOME	R-HSA-451326
Presynaptic function of Kainate receptors	REACTOME	R-HSA-500657
GABA receptor activation	REACTOME	R-HSA-977443
GABA B receptor activation	REACTOME	R-HSA-977444
Activation of GABAB receptors	REACTOME	R-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	REACTOME	R-HSA-997272
Potassium Channels	REACTOME	R-HSA-1296071
Inwardly rectifying K+ channels	REACTOME	R-HSA-1296065
G protein gated Potassium channels	REACTOME	R-HSA-1296059
Activation of G protein gated Potassium channels	REACTOME	R-HSA-1296041
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Prostacyclin signalling through prostacyclin receptor	REACTOME	R-HSA-392851
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Signal amplification	REACTOME	R-HSA-392518
ADP signalling through P2Y purinoceptor 12	REACTOME	R-HSA-392170
ADP signalling through P2Y purinoceptor 1	REACTOME	R-HSA-418592
Thromboxane signalling through TP receptor	REACTOME	R-HSA-428930
Thrombin signalling through proteinase activated receptors (PARs)	REACTOME	R-HSA-456926
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class B/2 (Secretin family receptors)	REACTOME	R-HSA-373080
Glucagon-type ligand receptors	REACTOME	R-HSA-420092
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555
G alpha (i) signalling events	REACTOME	R-HSA-418594
G alpha (z) signalling events	REACTOME	R-HSA-418597
G alpha (q) signalling events	REACTOME	R-HSA-416476
G alpha (12/13) signalling events	REACTOME	R-HSA-416482
G-protein beta:gamma signalling	REACTOME	R-HSA-397795
G beta:gamma signalling through PI3Kgamma	REACTOME	R-HSA-392451
G beta:gamma signalling through PLC beta	REACTOME	R-HSA-418217
Olfactory Signaling Pathway	REACTOME	R-HSA-381753
Opioid Signalling	REACTOME	R-HSA-111885
G-protein activation	REACTOME	R-HSA-202040
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Activation of the phototransduction cascade	REACTOME	R-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Aquaporin-mediated transport	REACTOME	R-HSA-445717
Vasopressin regulates renal water homeostasis via Aquaporins	REACTOME	R-HSA-432040
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretion	REACTOME	R-HSA-400042
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	REACTOME	R-HSA-381676
Glucagon signaling in metabolic regulation	REACTOME	R-HSA-163359
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	REACTOME	R-HSA-6814122
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA33384	PLCB1	Gene	Pathway	associated
PA33385	PLCB2	Gene	Pathway	associated
PA33386	PLCB3	Gene	Pathway	associated
PA33387	PLCB4	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
37453880	2023	Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.	1
37453880	2023	Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.	1
35192430	2022	Shikonin induces cell autophagy via modulating the microRNA -545-3p/guanine nucleotide binding protein beta polypeptide 1 axis, thereby disrupting cellular carcinogenesis in colon cancer.	4
35193469	2022	AFAP1 antisense RNA 1 promotes retinoblastoma progression by sponging microRNA miR-545-3p that targets G protein subunit beta 1.	3
35604143	2022	G Protein Subunit β1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2.	4
35192430	2022	Shikonin induces cell autophagy via modulating the microRNA -545-3p/guanine nucleotide binding protein beta polypeptide 1 axis, thereby disrupting cellular carcinogenesis in colon cancer.	4
35193469	2022	AFAP1 antisense RNA 1 promotes retinoblastoma progression by sponging microRNA miR-545-3p that targets G protein subunit beta 1.	3
35604143	2022	G Protein Subunit β1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2.	4
33427398	2021	Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.	3
34022220	2021	Gβγ translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.	8
33427398	2021	Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.	3
34022220	2021	Gβγ translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.	8
29174093	2018	Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.	14
30194818	2018	Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.	25
29174093	2018	Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.	14

Citation

Dessen P

GNB1 (G protein subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40728