GNB1 | ENSG00000078369 | NCBI 2782

Details for: GNB1

Gene ID: 2782

Symbol: GNB1

Ensembl ID: ENSG00000078369

Description: G protein subunit beta 1

Associated with

Activation of gabab receptors
(R-HSA-991365)
Activation of g protein gated potassium channels
(R-HSA-1296041)
Activation of kainate receptors upon glutamate binding
(R-HSA-451326)
Activation of the phototransduction cascade
(R-HSA-2485179)
Adora2b mediated anti-inflammatory cytokines production
(R-HSA-9660821)
Adp signalling through p2y purinoceptor 1
(R-HSA-418592)
Adp signalling through p2y purinoceptor 12
(R-HSA-392170)
Adrenaline,noradrenaline inhibits insulin secretion
(R-HSA-400042)
Anti-inflammatory response favouring leishmania parasite infection
(R-HSA-9662851)
Aquaporin-mediated transport
(R-HSA-445717)
Beta-catenin independent wnt signaling
(R-HSA-3858494)
Ca2+ pathway
(R-HSA-4086398)
Chaperonin-mediated protein folding
(R-HSA-390466)
Class b/2 (secretin family receptors)
(R-HSA-373080)
Cooperation of pdcl (phlp1) and tric/cct in g-protein beta folding
(R-HSA-6814122)
Disease
(R-HSA-1643685)
Esr-mediated signaling
(R-HSA-8939211)
Extra-nuclear estrogen signaling
(R-HSA-9009391)
G-protein activation
(R-HSA-202040)
G-protein beta:gamma signalling
(R-HSA-397795)
Gaba b receptor activation
(R-HSA-977444)
Gaba receptor activation
(R-HSA-977443)
G alpha (12/13) signalling events
(R-HSA-416482)
G alpha (i) signalling events
(R-HSA-418594)
G alpha (q) signalling events
(R-HSA-416476)
G alpha (s) signalling events
(R-HSA-418555)
G alpha (z) signalling events
(R-HSA-418597)
G beta:gamma signalling through btk
(R-HSA-8964315)
G beta:gamma signalling through cdc42
(R-HSA-8964616)
G beta:gamma signalling through pi3kgamma
(R-HSA-392451)
G beta:gamma signalling through plc beta
(R-HSA-418217)
Glucagon-like peptide-1 (glp1) regulates insulin secretion
(R-HSA-381676)
Glucagon-type ligand receptors
(R-HSA-420092)
Glucagon signaling in metabolic regulation
(R-HSA-163359)
Gpcr downstream signalling
(R-HSA-388396)
Gpcr ligand binding
(R-HSA-500792)
Gper1 signaling
(R-HSA-9634597)
G protein gated potassium channels
(R-HSA-1296059)
Hemostasis
(R-HSA-109582)
Inactivation, recovery and regulation of the phototransduction cascade
(R-HSA-2514859)
Incretin synthesis, secretion, and inactivation
(R-HSA-400508)
Infectious disease
(R-HSA-5663205)
Inhibition of voltage gated ca2+ channels via gbeta/gamma subunits
(R-HSA-997272)
Integration of energy metabolism
(R-HSA-163685)
Inwardly rectifying k+ channels
(R-HSA-1296065)
Leishmania infection
(R-HSA-9658195)
Leishmania parasite growth and survival
(R-HSA-9664433)
Metabolism
(R-HSA-1430728)
Metabolism of proteins
(R-HSA-392499)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Olfactory signaling pathway
(R-HSA-381753)
Opioid signalling
(R-HSA-111885)
Parasitic infection pathways
(R-HSA-9824443)
Peptide hormone metabolism
(R-HSA-2980736)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Platelet homeostasis
(R-HSA-418346)
Potassium channels
(R-HSA-1296071)
Presynaptic function of kainate receptors
(R-HSA-500657)
Prostacyclin signalling through prostacyclin receptor
(R-HSA-392851)
Protein folding
(R-HSA-391251)
Regulation of insulin secretion
(R-HSA-422356)
Sensory perception
(R-HSA-9709957)
Sensory perception of sweet, bitter, and umami (glutamate) taste
(R-HSA-9717207)
Signal amplification
(R-HSA-392518)
Signaling by gpcr
(R-HSA-372790)
Signaling by nuclear receptors
(R-HSA-9006931)
Signaling by wnt
(R-HSA-195721)
Synthesis, secretion, and inactivation of glucagon-like peptide-1 (glp-1)
(R-HSA-381771)
The phototransduction cascade
(R-HSA-2514856)
Thrombin signalling through proteinase activated receptors (pars)
(R-HSA-456926)
Thromboxane signalling through tp receptor
(R-HSA-428930)
Transmission across chemical synapses
(R-HSA-112315)
Transport of small molecules
(R-HSA-382551)
Vasopressin regulates renal water homeostasis via aquaporins
(R-HSA-432040)
Visual phototransduction
(R-HSA-2187338)
Adenylate cyclase-activating dopamine receptor signaling pathway
(GO:0007191)
Cell population proliferation
(GO:0008283)
Cellular response to catecholamine stimulus
(GO:0071870)
Cellular response to prostaglandin e stimulus
(GO:0071380)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
G protein-coupled acetylcholine receptor signaling pathway
(GO:0007213)
G protein-coupled receptor signaling pathway
(GO:0007186)
Gtpase activity
(GO:0003924)
Gtpase binding
(GO:0051020)
Heterotrimeric g-protein complex
(GO:0005834)
Lysosomal membrane
(GO:0005765)
Phospholipase c-activating g protein-coupled receptor signaling pathway
(GO:0007200)
Plasma membrane
(GO:0005886)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Ras protein signal transduction
(GO:0007265)
Retina development in camera-type eye
(GO:0060041)
Sensory perception of taste
(GO:0050909)
Signaling receptor complex adaptor activity
(GO:0030159)
Signal transduction
(GO:0007165)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 3.94
Marker Score: 20,678
Cell Name: Purkinje cell (CL0000121)
Fold Change: 3.92
Marker Score: 132,233
Cell Name: retinal rod cell (CL0000604)
Fold Change: 3.8
Marker Score: 10,829
Cell Name: chromaffin cell (CL0000166)
Fold Change: 3.61
Marker Score: 5,074
Cell Name: endocrine cell (CL0000163)
Fold Change: 3.24
Marker Score: 1,675
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 3.03
Marker Score: 53,783
Cell Name: stellate neuron (CL0000122)
Fold Change: 3.01
Marker Score: 16,195
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 2.9
Marker Score: 9,731
Cell Name: granule cell (CL0000120)
Fold Change: 2.77
Marker Score: 20,859
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 2.7
Marker Score: 805
Cell Name: taste receptor cell (CL0000209)
Fold Change: 2.68
Marker Score: 2,312
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 2.57
Marker Score: 3,740
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 2.48
Marker Score: 11,494
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 2.45
Marker Score: 2,825
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 2.43
Marker Score: 2,928
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 2.42
Marker Score: 5,790
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 2.42
Marker Score: 36,117
Cell Name: macroglial cell (CL0000126)
Fold Change: 2.4
Marker Score: 5,522
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 2.37
Marker Score: 1,417
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 2.35
Marker Score: 18,022
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 2.34
Marker Score: 2,232
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 2.34
Marker Score: 88,795
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 2.33
Marker Score: 9,739
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 2.28
Marker Score: 45,316
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 2.24
Marker Score: 4,312
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 2.24
Marker Score: 9,320
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 2.22
Marker Score: 1,300
Cell Name: endocardial cell (CL0002350)
Fold Change: 2.22
Marker Score: 1,256
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 2.22
Marker Score: 19,475
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 2.19
Marker Score: 9,124
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 2.15
Marker Score: 79,452
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 2.15
Marker Score: 2,263
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 2.13
Marker Score: 45,521
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 2.11
Marker Score: 8,762
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 2.09
Marker Score: 1,040
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 2.09
Marker Score: 2,254
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.09
Marker Score: 8,068
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 2.06
Marker Score: 865
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 2.06
Marker Score: 2,493
Cell Name: podocyte (CL0000653)
Fold Change: 2.03
Marker Score: 749
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 2.02
Marker Score: 112,887
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 2.02
Marker Score: 2,154
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 2.01
Marker Score: 68,232
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 2
Marker Score: 18,854
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.99
Marker Score: 122,303
Cell Name: mature microglial cell (CL0002629)
Fold Change: 1.98
Marker Score: 716
Cell Name: anterior lens cell (CL0002223)
Fold Change: 1.98
Marker Score: 2,661
Cell Name: cardiac neuron (CL0010022)
Fold Change: 1.94
Marker Score: 2,418
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 1.94
Marker Score: 463
Cell Name: acinar cell (CL0000622)
Fold Change: 1.93
Marker Score: 1,364
Cell Name: early pro-B cell (CL0002046)
Fold Change: 1.92
Marker Score: 19,499
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.92
Marker Score: 1,095
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 1.91
Marker Score: 3,389
Cell Name: endothelial cell (CL0000115)
Fold Change: 1.9
Marker Score: 1,707
Cell Name: innate lymphoid cell (CL0001065)
Fold Change: 1.9
Marker Score: 683
Cell Name: cell in vitro (CL0001034)
Fold Change: 1.89
Marker Score: 65,638
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.89
Marker Score: 19,534
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 1.87
Marker Score: 2,100
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.87
Marker Score: 4,261
Cell Name: basal cell (CL0000646)
Fold Change: 1.86
Marker Score: 2,400
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.85
Marker Score: 2,048
Cell Name: neuron (CL0000540)
Fold Change: 1.85
Marker Score: 7,546
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 1.85
Marker Score: 3,761
Cell Name: lung macrophage (CL1001603)
Fold Change: 1.85
Marker Score: 2,116
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 1.84
Marker Score: 584
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 1.83
Marker Score: 4,020
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 1.83
Marker Score: 1,061
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.82
Marker Score: 2,685
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.82
Marker Score: 17,284
Cell Name: non-classical monocyte (CL0000875)
Fold Change: 1.82
Marker Score: 4,382
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.81
Marker Score: 896
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 1.81
Marker Score: 2,563
Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 1.79
Marker Score: 997
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.79
Marker Score: 868
Cell Name: melanocyte (CL0000148)
Fold Change: 1.79
Marker Score: 724
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 1.78
Marker Score: 45,629
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.78
Marker Score: 15,296
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 1.78
Marker Score: 348
Cell Name: mesenchymal lymphangioblast (CL0005021)
Fold Change: 1.77
Marker Score: 396
Cell Name: renal principal cell (CL0005009)
Fold Change: 1.77
Marker Score: 1,366
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.77
Marker Score: 1,204
Cell Name: erythroblast (CL0000765)
Fold Change: 1.76
Marker Score: 1,099
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1.76
Marker Score: 1,615
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 1.75
Marker Score: 923
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 1.73
Marker Score: 707
Cell Name: Kupffer cell (CL0000091)
Fold Change: 1.73
Marker Score: 1,732
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 1.73
Marker Score: 572
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 1.72
Marker Score: 1,002
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.71
Marker Score: 19,253
Cell Name: ependymal cell (CL0000065)
Fold Change: 1.71
Marker Score: 595
Cell Name: enterocyte (CL0000584)
Fold Change: 1.7
Marker Score: 8,183
Cell Name: astrocyte (CL0000127)
Fold Change: 1.7
Marker Score: 1,475
Cell Name: stromal cell (CL0000499)
Fold Change: 1.7
Marker Score: 1,988
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 1.7
Marker Score: 1,825
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 1.69
Marker Score: 986
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 1.68
Marker Score: 1,050
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 1.67
Marker Score: 1,675
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 1.67
Marker Score: 1,108
Cell Name: lactocyte (CL0002325)
Fold Change: 1.66
Marker Score: 26,711
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 1.66
Marker Score: 1,564

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics** The GNB1 gene is a single-copy gene located on chromosome 1q42.3. It encodes for a 273-amino acid protein, which is a subunit of the heterotrimeric G protein complex. The GNB1 protein is characterized by its ability to bind to guanine nucleotides and regulate the activity of G protein-coupled receptors (GPCRs). The GNB1 protein is also involved in the regulation of various signaling pathways, including those involved in neurotransmission, hormone secretion, and immune responses. **Pathways and Functions** The GNB1 protein plays a crucial role in various signaling pathways, including: 1. **Neurotransmission**: GNB1 is involved in the regulation of neurotransmitter release and synaptic transmission in neurons. 2. **Hormone Secretion**: GNB1 is involved in the regulation of hormone secretion from endocrine cells, including insulin, glucagon, and gastrin. 3. **Immune Response**: GNB1 is involved in the regulation of immune responses, including the production of anti-inflammatory cytokines and the activation of immune cells. 4. **Cell Proliferation**: GNB1 is involved in the regulation of cell proliferation and differentiation in various cell types. 5. **Energy Metabolism**: GNB1 is involved in the regulation of energy metabolism, including the regulation of glucose and lipid metabolism. The GNB1 protein also interacts with various other proteins and signaling molecules, including: 1. **G-protein-coupled receptors**: GNB1 interacts with GPCRs to regulate their activity and signaling. 2. **Adenylate cyclase**: GNB1 interacts with adenylate cyclase to regulate the production of cyclic AMP (cAMP), a key second messenger in cellular signaling. 3. **Phospholipase C**: GNB1 interacts with phospholipase C to regulate the production of inositol trisphosphate (IP3) and diacylglycerol (DAG), two key second messengers in cellular signaling. **Clinical Significance** Alterations in the GNB1 gene have been implicated in various diseases, including: 1. **Neurological disorders**: GNB1 mutations have been implicated in neurological disorders, including Parkinson's disease, Huntington's disease, and schizophrenia. 2. **Metabolic disorders**: GNB1 mutations have been implicated in metabolic disorders, including type 2 diabetes and obesity. 3. **Cancer**: GNB1 mutations have been implicated in cancer, including breast cancer and colon cancer. 4. **Immune disorders**: GNB1 mutations have been implicated in immune disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, the GNB1 gene plays a crucial role in various cellular processes, including neurotransmission, hormone secretion, cell proliferation, and immune responses. Alterations in the GNB1 gene have been implicated in various diseases, including neurological disorders, metabolic disorders, and cancer. Further research is needed to fully understand the role of GNB1 in human disease and to develop effective therapeutic strategies for the treatment of GNB1-related disorders.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
B3KVK2_HUMAN

Genular Protein ID: 2345404785

Symbol: GBB1_HUMAN

Name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1

UniProtKB Accession Codes:

P62873 B1AJZ7 P04697 P04901 Q1RMY8

Database IDs:

Citations:

PubMed ID: 3095147

Title: Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical.

PubMed ID: 3095147

DOI: 10.1016/0014-5793(86)81486-7

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14512443

Title: G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production.

PubMed ID: 14512443

DOI: 10.1161/01.res.0000097607.14733.0c

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19255495

Title: The cationic region of Rhes mediates its interactions with specific Gbeta subunits.

PubMed ID: 19255495

DOI: 10.1159/000204075

PubMed ID: 19713215

Title: Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.

PubMed ID: 19713215

DOI: 10.1074/jbc.m109.047282

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27108799

Title: Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.

PubMed ID: 27108799

DOI: 10.1016/j.ajhg.2016.03.011

PubMed ID: 34685729

Title: Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.

PubMed ID: 34685729

DOI: 10.3390/cells10102749

PubMed ID: 18611381

Title: Structure of the parathyroid hormone receptor C terminus bound to the G-protein dimer Gbeta1gamma2.

PubMed ID: 18611381

DOI: 10.1016/j.str.2008.04.010

PubMed ID: 21827955

Title:

PubMed ID: 21827955

DOI: 10.1016/j.str.2011.07.010

PubMed ID: 36171289

Title: Bespoke library docking for 5-HT2A receptor agonists with antidepressant activity.

PubMed ID: 36171289

DOI: 10.1038/s41586-022-05258-z

PubMed ID: 35501348

Title: Activation and allosteric regulation of the orphan GPR88-Gi1 signaling complex.

PubMed ID: 35501348

DOI: 10.1038/s41467-022-30081-5

PubMed ID: 35061538

Title: Atypical structural snapshots of human cytomegalovirus GPCR interactions with host G proteins.

PubMed ID: 35061538

DOI: 10.1126/sciadv.abl5442

PubMed ID: 25485910

Title: Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance.

PubMed ID: 25485910

DOI: 10.1038/nm.3751

PubMed ID: 27668284

Title: Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PubMed ID: 27668284

DOI: 10.1212/nxg.0000000000000106

PubMed ID: 28087732

Title: Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PubMed ID: 28087732

DOI: 10.1093/hmg/ddx018

Sequence Information:

Length: 340
Mass: 37377
Checksum: 896CBD32D2686598
Sequence:

MSELDQLRQE AEQLKNQIRD ARKACADATL SQITNNIDPV GRIQMRTRRT LRGHLAKIYA 
MHWGTDSRLL VSASQDGKLI IWDSYTTNKV HAIPLRSSWV MTCAYAPSGN YVACGGLDNI 
CSIYNLKTRE GNVRVSRELA GHTGYLSCCR FLDDNQIVTS SGDTTCALWD IETGQQTTTF 
TGHTGDVMSL SLAPDTRLFV SGACDASAKL WDVREGMCRQ TFTGHESDIN AICFFPNGNA 
FATGSDDATC RLFDLRADQE LMTYSHDNII CGITSVSFSK SGRLLLAGYD DFNCNVWDAL 
KADRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWN

Genular Protein ID: 3055887314

Symbol: B3KVK2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KVK2

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

Length: 240
Mass: 25935
Checksum: 372B5998DF3B8414
Sequence:

MTCAYAPSGN YVACGGLDNI CSIYNLKTRE GNVRVSRELA GHTGYLSCCR FLDDNQIVTS 
SGDTTCALWD IETGQQTTTF TGHTGDVMSL SLAPDTRLFV SGACDASAKL WDVREGMCRQ 
TFTGHESDIN AICFFPNGNA FATGSDDATC RLFDLRADQE LMTYSHDNII CGITSVSFSK 
SGRLLLAGYD DFNCNVWDAL KADRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: GNB1

Associated with

Cells (max top 100)

Other Information

Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical. PubMed ID: 3095147

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production. PubMed ID: 14512443

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

The cationic region of Rhes mediates its interactions with specific Gbeta subunits. PubMed ID: 19255495

Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5. PubMed ID: 19713215

Initial characterization of the human central proteome. PubMed ID: 21269460

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures. PubMed ID: 27108799

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease. PubMed ID: 34685729

Structure of the parathyroid hormone receptor C terminus bound to the G-protein dimer Gbeta1gamma2. PubMed ID: 18611381

PubMed ID: 21827955

Bespoke library docking for 5-HT2A receptor agonists with antidepressant activity. PubMed ID: 36171289

Activation and allosteric regulation of the orphan GPR88-Gi1 signaling complex. PubMed ID: 35501348

Atypical structural snapshots of human cytomegalovirus GPCR interactions with host G proteins. PubMed ID: 35061538

Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance. PubMed ID: 25485910

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. PubMed ID: 27668284

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. PubMed ID: 28087732

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

Initial characterization of the human central proteome. PubMed ID: 21269460

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Database document:

PubMed ID: 3095147

PubMed ID: 16710414

PubMed ID: 15489334

PubMed ID: 14512443

PubMed ID: 19413330

PubMed ID: 19255495

PubMed ID: 19713215

PubMed ID: 21269460

PubMed ID: 22223895

PubMed ID: 23186163

PubMed ID: 25944712

PubMed ID: 27108799

PubMed ID: 34685729

PubMed ID: 18611381

PubMed ID: 36171289

PubMed ID: 35501348

PubMed ID: 35061538

PubMed ID: 25485910

PubMed ID: 27668284

PubMed ID: 28087732

PubMed ID: 14702039

PubMed ID: 16710414

PubMed ID: 21269460

PubMed ID: 25944712