GNB1

—

Protein-coding gene in the species Homo sapiens

GNB1

Available structures

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; OMA:GNB1 - orthologs

Gene location (Human)
Chromosome 1 (human)
Chr.	Chromosome 1 (human) ^[1]
Chromosome 1 (human) Genomic location for GNB1 Genomic location for GNB1
Band	1p36.33	Start	1,785,285 bp ^[1]
Band	1p36.33	End	1,891,117 bp ^[1]

Gene location (Mouse)
Chromosome 4 (mouse)
Chr.	Chromosome 4 (mouse)^[2]
Chromosome 4 (mouse) Genomic location for GNB1 Genomic location for GNB1
Band	4 E2\|4 86.17 cM	Start	155,575,818 bp ^[2]
Band	4 E2\|4 86.17 cM	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 neural layer of retina dentate gyrus of hippocampal formation granule cell retinal pigment epithelium tail of embryo genital tubercle visual cortex perirhinal cortex entorhinal cortex primary visual cortex ventricular zone
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

[edit ]

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

[edit ]

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

[[File:

NicotineDopaminergic_WP1602

[[]]

NicotineDopaminergic_WP1602

|alt=Nicotine Activity on Dopaminergic Neurons edit]]

Nicotine Activity on Dopaminergic Neurons edit

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

Interactions

[edit ]

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

Mutations

[edit ]

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

[edit ]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000078369 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029064 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1".
^ Ogorodnikov A, Levin M, Tattikota S, Tokalov S, Hoque M, Scherzinger D, Marini F, Poetsch A, Binder H, Macher-Göppinger S, Probst HC, Tian B, Schaefer M, Lackner KJ, Westermann F, Danckwardt S (December 2018). "Transcriptome 3'end organization by PCF11 links alternative polyadenylation to formation and neuronal differentiation of neuroblastoma". Nat. Commun. 9 (1): 5331. Bibcode:2018NatCo...9.5331O. doi:10.1038/s41467-018-07580-5. PMC 6294251 . PMID 30552333.
^ Ray K, Kunsch C, Bonner LM, Robishaw JD (September 1995). "Isolation of cDNA clones encoding eight different human G protein gamma subunits, including three novel forms designated the gamma 4, gamma 10, and gamma 11 subunits". J. Biol. Chem. 270 (37): 21765–71. doi:10.1074/jbc.270.37.21765 . PMID 7665596.
^ Yan K, Kalyanaraman V, Gautam N (March 1996). "Differential ability to form the G protein betagamma complex among members of the beta and gamma subunit families". J. Biol. Chem. 271 (12): 7141–6. doi:10.1074/jbc.271.12.7141 . PMID 8636150.

External links

[edit ]

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.

Stub icon

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

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PDB gallery

1a0r: HETEROTRIMERIC COMPLEX OF PHOSDUCIN/TRANSDUCIN BETA-GAMMA

1a0r: HETEROTRIMERIC COMPLEX OF PHOSDUCIN/TRANSDUCIN BETA-GAMMA
1b9x: STRUCTURAL ANALYSIS OF PHOSDUCIN AND ITS PHOSPHORYLATION-REGULATED INTERACTION WITH TRANSDUCIN

1b9x: STRUCTURAL ANALYSIS OF PHOSDUCIN AND ITS PHOSPHORYLATION-REGULATED INTERACTION WITH TRANSDUCIN
1b9y: STRUCTURAL ANALYSIS OF PHOSDUCIN AND ITS PHOSPHORYLATION-REGULATED INTERACTION WITH TRANSDUCIN BETA-GAMMA

1b9y: STRUCTURAL ANALYSIS OF PHOSDUCIN AND ITS PHOSPHORYLATION-REGULATED INTERACTION WITH TRANSDUCIN BETA-GAMMA
1gg2: G PROTEIN HETEROTRIMER MUTANT GI_ALPHA_1(G203A) BETA_1 GAMMA_2 WITH GDP BOUND

1gg2: G PROTEIN HETEROTRIMER MUTANT GI_ALPHA_1(G203A) BETA_1 GAMMA_2 WITH GDP BOUND
1got: HETEROTRIMERIC COMPLEX OF A GT-ALPHA/GI-ALPHA CHIMERA AND THE GT-BETA-GAMMA SUBUNITS

1got: HETEROTRIMERIC COMPLEX OF A GT-ALPHA/GI-ALPHA CHIMERA AND THE GT-BETA-GAMMA SUBUNITS
1gp2: G PROTEIN HETEROTRIMER GI_ALPHA_1 BETA_1 GAMMA_2 WITH GDP BOUND

1gp2: G PROTEIN HETEROTRIMER GI_ALPHA_1 BETA_1 GAMMA_2 WITH GDP BOUND
1omw: Crystal Structure of the complex between G Protein-Coupled Receptor Kinase 2 and Heterotrimeric G Protein beta 1 and gamma 2 subunits

1omw: Crystal Structure of the complex between G Protein-Coupled Receptor Kinase 2 and Heterotrimeric G Protein beta 1 and gamma 2 subunits
1tbg: BETA-GAMMA DIMER OF THE HETEROTRIMERIC G-PROTEIN TRANSDUCIN

1tbg: BETA-GAMMA DIMER OF THE HETEROTRIMERIC G-PROTEIN TRANSDUCIN
1xhm: The Crystal Structure of a Biologically Active Peptide (SIGK) Bound to a G Protein Beta:Gamma Heterodimer

1xhm: The Crystal Structure of a Biologically Active Peptide (SIGK) Bound to a G Protein Beta:Gamma Heterodimer
2bcj: Crystal Structure of G Protein-Coupled Receptor Kinase 2 in Complex with Galpha-q and Gbetagamma Subunits

2bcj: Crystal Structure of G Protein-Coupled Receptor Kinase 2 in Complex with Galpha-q and Gbetagamma Subunits
2trc: PHOSDUCIN/TRANSDUCIN BETA-GAMMA COMPLEX

2trc: PHOSDUCIN/TRANSDUCIN BETA-GAMMA COMPLEX

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Intracellular signaling peptides and proteins

MAP

see MAP kinase pathway

Calcium

G protein

Heterotrimeric

cAMP:	Heterotrimeric G protein Gs/Gi Adenylate cyclase cAMP 3',5'-cyclic-AMP phosphodiesterase Protein kinase A
cGMP:	Transducin Gustducin Guanylate cyclase cGMP 3',5'-cyclic-GMP phosphodiesterase Protein kinase G
G alpha subunit G_α GNAO1 GNAI1 GNAI2 GNAI3 GNAT1 GNAT2 GNAT3 GNAZ GNAS GNAL GNAQ GNA11 GNA12 GNA13 GNA14 GNA15/GNA16
G beta-gamma complex G_β GNB1 GNB2 GNB3 GNB4 GNB5 G_γ GNGT1 GNGT2 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNG10 GNG11 GNG12 GNG13 BSCL2
G protein-coupled receptor kinase AMP-activated protein kinase

Monomeric

Cyclin

Lipid

Other protein kinase

Serine/threonine:	Casein kinase 1 2 eIF-2 kinase EIF2AK3 Glycogen synthase kinase GSK1 GSK2 GSK-3 GSK3A GSK3B IκB kinase CHUK IKK2 IKBKG Interleukin-1 receptor associated kinase IRAK1 IRAK2 IRAK3 IRAK4 Lim kinase LIMK1 LIMK2 p21-activated kinases PAK1 PAK2 PAK3 PAK4 Rho-associated protein kinase ROCK1 ROCK2 Ribosomal s6 kinase RPS6KA1
Tyrosine:	ZAP70 Focal adhesion protein-tyrosine kinase PTK2 PTK2B BTK
Serine/threonine/tyrosine	Dual-specificity kinase DYRK1A DYRK1B DYRK2 DYRK3 DYRK4
Arginine	Arginine kinase McsB

Other protein phosphatase

Serine/threonine:	Protein phosphatase 2
Tyrosine:	protein tyrosine phosphatase: Receptor-like protein tyrosine phosphatase Sh2 domain-containing protein tyrosine phosphatase
both:	Dual-specificity phosphatase