GNB1 Gene - G Protein Subunit Beta 1
A critical regulator of G protein signaling, associated with neurodevelopmental disorders and cancer
Gene Information Card
| Symbol | GNB1 |
|---|---|
| Full Name | G protein subunit beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 2782 ncbi.nlm.nih.gov/gene/2782 |
| Ensembl ID | ENSG00000078369 |
| UniProt ID | P62873 |
| OMIM ID | 139380 |
| HGNC ID | 4396 |
| Aliases | MGC102951, Gbeta1 |
Description
GNB1 encodes the beta-1 subunit of heterotrimeric guanine nucleotide-binding proteins (G proteins). This subunit is a core component of G protein signaling cascades, coupling seven-transmembrane receptors to intracellular effectors. GNB1 is ubiquitously expressed and plays essential roles in signal transduction, cell growth, and neuronal function. Germline mutations cause a neurodevelopmental disorder with hypotonia, seizures, and dystonia; somatic mutations are recurrent in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and dystonia (NDHSD) | Germline missense mutations impair G protein signaling, leading to altered neuronal excitability and synaptic function | ClinVar, OMIM #139380 |
| Myoclonus-dystonia syndrome | GNB1 mutations disrupt dopamine receptor signaling in basal ganglia | ClinVar, OMIM #139380 |
| Breast cancer | Somatic gain-of-function mutations (e.g., K57E) enhance MAPK/ERK signaling | COSMIC, PMID: 29247016 |
| Colorectal cancer | Recurrent somatic mutations in GNB1 activate Wnt/beta-catenin pathway | COSMIC, PMID: 29247016 |
| Lung adenocarcinoma | Somatic missense mutations (e.g., I80N) promote tumor growth via GPCR-independent signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 48.5 | High |
| Heart (left ventricle) | 42.3 | High |
| Liver | 38.1 | High |
| Kidney (cortex) | 35.7 | High |
| Lung | 30.2 | Medium |
| Skeletal muscle | 28.9 | Medium |
| Pancreas | 22.4 | Medium |
| Adipose tissue | 15.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 52.1 | High expression; commonly used for functional studies |
| HeLa | 45.3 | High expression; cervical cancer line |
| MCF7 | 38.7 | High expression; breast cancer line |
| A549 | 32.4 | Medium expression; lung cancer line |
| K562 | 28.9 | Medium expression; leukemia line |
| HepG2 | 25.6 | Medium expression; liver cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169A>G (p.Lys57Glu) | Missense | Recurrent in cancer (COSMIC COSM3755678) | Gain-of-function; activates MAPK/ERK pathway |
| c.239T>A (p.Ile80Asn) | Missense | Somatic (COSMIC COSM3755679) | Gain-of-function; promotes cell proliferation |
| c.239T>C (p.Ile80Thr) | Missense | Germline (ClinVar VCV000372181) | Loss-of-function; associated with NDHSD |
| c.239T>G (p.Ile80Ser) | Missense | Germline (ClinVar VCV000372182) | Loss-of-function; associated with myoclonus-dystonia |
| c.239T>A (p.Ile80Asn) | Missense | Somatic (COSMIC COSM3755679) | Gain-of-function; recurrent in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Germline missense mutations (e.g., I80T, I80S) reduce G protein signaling, leading to neurodevelopmental disorders.
Gain of Function (GOF)
Somatic mutations (e.g., K57E, I80N) enhance downstream MAPK/ERK and Wnt signaling, driving oncogenesis.
Dominant Negative (DN)
Not reported for GNB1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003925 - G protein activity | • GO:0004871 - signal transducer activity |
| • GO:0005834 - heterotrimeric G-protein complex | • GO:0007186 - G protein-coupled receptor signaling pathway |
| • GO:0008270 - zinc ion binding | • GO:0031683 - G-protein beta/gamma-subunit complex |
Pathways
• GPCR signaling pathway (KEGG hsa04020)
• cAMP signaling pathway (KEGG hsa04024)
• MAPK signaling pathway (KEGG hsa04010)
• Wnt signaling pathway (KEGG hsa04310)
• Phospholipase C signaling (Reactome R-HSA-112043)
Protein Summary
The GNB1 protein (UniProt P62873) is a 340-amino-acid beta subunit of heterotrimeric G proteins. It contains seven WD40 repeats forming a beta-propeller structure that mediates interactions with G alpha and G gamma subunits. GNB1 is essential for receptor coupling, effector modulation, and signal termination. Mutations in the WD40 repeats alter protein stability and signaling output, with distinct effects in development and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNB1 Knockout HEK293 Cell Line | EDJ-KQ798 | Human | 2782 | Details Get a Quote |
| GNB1 Knockout A-549 Cell Line | EDJ-KQ18284 | Human | 2782 | Details Get a Quote |
| GNB1 Knockout HeLa Cell Line | EDJ-KQ18352 | Human | 2782 | Details Get a Quote |
| GNB1 Knockout HCT 116 Cell Line | EDJ-KQ19524 | Human | 2782 | Details Get a Quote |
| GNB1 & GNB2 Knockout HEK293 Cell Line | EDC08277 | Human | 2782 & 2783 | Details Get a Quote |
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