GNB1

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GNB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4KFM, 4PNK, 3KRX, 3KRW, 1GG2, 1OMW, 1GP2, 3AH8, 1XHM, 1TBG, 3PSC, 3PVU, 3UZS, 3CIK, 3PVW, 3V5W, 5HE2, 5HE0, 5HE3, 5HE1
Identifiers
Aliases	GNB1, G protein subunit beta 1, MRD42, MDS, HG2A
External IDs	OMIM: 139380 MGI: 95781 HomoloGene: 55532 GeneCards: GNB1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.33 Start 1,785,285 bp[1] End 1,891,117 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 E2|4 86.17 cM Start 155,575,818 bp[2] End 155,643,726 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence secondary oocyte prefrontal cortex Region I of hippocampus proper orbitofrontal cortex superior vestibular nucleus stromal cell of endometrium Brodmann area 10 parietal lobe caput epididymis Top expressed in retinal pigment epithelium visual cortex entorhinal cortex superior frontal gyrus aortic valve cingulate gyrus cumulus cell ascending aorta supraoptic nucleus corneal stroma More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding type 1 angiotensin receptor binding protein-containing complex binding signal transducer activity protein binding GTPase activity GTPase binding G protein-coupled receptor binding alkylglycerophosphoethanolamine phosphodiesterase activity Cellular component extracellular vesicle cell body membrane photoreceptor inner segment myelin sheath plasma membrane photoreceptor outer segment intracellular anatomical structure lysosomal membrane dendrite photoreceptor disc membrane heterotrimeric G-protein complex photoreceptor outer segment membrane extracellular exosome cytosol Biological process cellular response to catecholamine stimulus G protein-coupled acetylcholine receptor signaling pathway adenylate cyclase-activating dopamine receptor signaling pathway positive regulation of cytosolic calcium ion concentration cellular response to glucagon stimulus cellular response to prostaglandin E stimulus platelet activation cardiac muscle cell apoptotic process phospholipase C-activating G protein-coupled receptor signaling pathway retina development in camera-type eye Ras protein signal transduction cell population proliferation cellular response to hypoxia sensory perception of taste signal transduction rhodopsin mediated signaling pathway protein heterotrimerization Wnt signaling pathway, calcium modulating pathway protein folding G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2782 14688 Ensembl ENSG00000078369 ENSMUSG00000029064 UniProt P62873 P62874 RefSeq (mRNA) NM_002074 NM_001282538 NM_001282539 NM_001160016 NM_001160017 NM_008142 RefSeq (protein) NP_001269467 NP_001269468 NP_002065 NP_001153488 NP_001153489 NP_032168 Location (UCSC) Chr 1: 1.79 – 1.89 Mb Chr 4: 155.58 – 155.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 is a protein that in humans is encoded by the GNB1 gene.^[5]

Function

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals.^[5][6]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Nicotine Activity on Dopaminergic Neurons edit]]

Nicotine Activity on Dopaminergic Neurons edit

1. ^ The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

Interactions

GNB1 has been shown to interact with GNG4.^[7][8]

Mutations

Mutations in the GNB1 gene can cause developmental delays, seizures, and other health problems. The GNB1 Advocacy Group is the primary organization in the United States connecting patients to each other and to researchers working to cure the effects of these mutations.

www.facebook.com/groups/gnb1advocacy/

https://www.gnb1.org/

https://www.ncbi.nlm.nih.gov/books/NBK554743/

References

Further reading

External links

• Overview of all the structural information available in the PDB for UniProt: P62873 (Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1) at the PDBe-KB.