ENSG00000078369


Homo sapiens
signallingGNB1g-proteinpathwayreceptorsignalinggbetaproteinbindingwdmembranealphaeventscoupledactivationcellularresponsephotoreceptorrepeatdomainsignalregulationcellstimulussegmentactivitygammareceptorssubunitsuperfamily

Features
Gene ID: ENSG00000078369
  
Biological name :GNB1
  
Synonyms : GNB1 / G protein subunit beta 1 / P62873
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.33
Gene start: 1785285
Gene end: 1891117
  
Corresponding Affymetrix probe sets: 200744_s_at (Human Genome U133 Plus 2.0 Array)   200745_s_at (Human Genome U133 Plus 2.0 Array)   200746_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000399741
Ensembl peptide - ENSP00000392765
Ensembl peptide - ENSP00000416651
Ensembl peptide - ENSP00000483532
Ensembl peptide - ENSP00000481878
Ensembl peptide - ENSP00000367872
NCBI entrez gene - 2782     See in Manteia.
OMIM - 139380
RefSeq - XM_017001061
RefSeq - NM_001282538
RefSeq - NM_001282539
RefSeq - NM_002074
RefSeq - XM_017001059
RefSeq - XM_017001060
RefSeq Peptide - NP_001269467
RefSeq Peptide - NP_001269468
RefSeq Peptide - NP_002065
swissprot - B1AKQ8
swissprot - F6UT28
swissprot - F6X3N5
swissprot - B3KVK2
swissprot - A0A024R056
swissprot - P62873
Ensembl - ENSG00000078369
  
Related genetic diseases (OMIM): 613065 - Leukemia, acute lymphoblastic, somatic, 613065
  616973 - Mental retardation, autosomal dominant 42, 616973
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnb1aENSDARG00000090454Danio rerio
 gnb1bENSDARG00000104372Danio rerio
 GNB1ENSGALG00000001334Gallus gallus
 Gnb1ENSMUSG00000029064Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNB4 / Q9HAV0 / G protein subunit beta 4ENSG0000011445091
GNB2 / P62879 / G protein subunit beta 2ENSG0000017235490
GNB3 / P16520 / G protein subunit beta 3ENSG0000011166483
GNB5 / O14775 / G protein subunit beta 5ENSG0000006996652
WDR47 / O94967 / WD repeat domain 47ENSG0000008543328


Protein motifs (from Interpro)
Interpro ID Name
 IPR001632  G-protein, beta subunit
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016346  Guanine nucleotide-binding protein, beta subunit
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
protein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein foldingcell communicationcellular response to stimulusregulation of biological qualityresponse to endogenous stimulusresponse to chemicalcell deathresponse to external stimulusdetection of stimulusresponse to abiotic stimulusresponse to stresscoagulationcell activationsystem processanatomical structure developmentcellular component organizationcellular component biogenesisprotein protein foldingcell comcell communicationcellularcellular response to stimulusregulatiregulation of biological qualityresponseresponse to endogenous stimulusresponseresponse to chemicalcell deacell deathresponseresponse to external stimulusdetectiodetection of stimulusresponseresponse to abiotic stimulusresponseresponse to stresscoagulatcoagulationcell actcell activationsystem psystem processanatomicanatomical structure developmentcellularcellular component organizationcellularcellular component biogenesis
protein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindinghydrolase activityprotein-containing complex bindingprotein bindingprotein bindinghydrolase activityhydrolase activityprotein-containing complex bindingprotein-containing complex binding
cellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellorganellemembraneprotein-containing complexextracellular regioncellcellorganelleorganellemembranemembraneprotein-containing complexprotein-containing complexextracellular regionextracellular region
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway ISS
 biological_processGO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007213 G-protein coupled acetylcholine receptor signaling pathway TAS
 biological_processGO:0007223 Wnt signaling pathway, calcium modulating pathway TAS
 biological_processGO:0007265 Ras protein signal transduction TAS
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0010659 cardiac muscle cell apoptotic process IEA
 biological_processGO:0016056 rhodopsin mediated signaling pathway TAS
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0050909 sensory perception of taste IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0070208 protein heterotrimerization IEA
 biological_processGO:0071377 cellular response to glucagon stimulus TAS
 biological_processGO:0071380 cellular response to prostaglandin E stimulus ISS
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071870 cellular response to catecholamine stimulus ISS
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0001917 photoreceptor inner segment IEA
 cellular_componentGO:0005622 intracellular ISS
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005834 heterotrimeric G-protein complex IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042622 photoreceptor outer segment membrane IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097381 photoreceptor disc membrane TAS
 cellular_componentGO:1903561 extracellular vesicle HDA
 molecular_functionGO:0001664 G-protein coupled receptor binding IEA
 molecular_functionGO:0003924 GTPase activity IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030507 spectrin binding IEA
 molecular_functionGO:0031702 type 1 angiotensin receptor binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IDA
 molecular_functionGO:0047391 alkylglycerophosphoethanolamine phosphodiesterase activity IEA
 molecular_functionGO:0051020 GTPase binding IPI


Pathways (from Reactome)
Pathway description
Activation of G protein gated Potassium channels
Glucagon signaling in metabolic regulation
G-protein activation
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Olfactory Signaling Pathway
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
Vasopressin regulates renal water homeostasis via Aquaporins
Thrombin signalling through proteinase activated receptors (PARs)
Presynaptic function of Kainate receptors
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits


Phenotype (from MGI, Zfin or HPO)
Genitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinary abnormalityHead and neck abnormalityAbnormality of the eyesNeurological abnormalityAbnormality of musculatureGrowth abnormalityAbnormality of limbsAge of onsetNeoplasiaImmunological abnormalityHematological abnormalityMultifactorialGenitourinaGenitourinary abnormalityHead and neHead and neck abnormalityAbnormalityAbnormality of the eyesNeurologicaNeurological abnormalityAbnormalityAbnormality of musculatureGrowth abnoGrowth abnormalityAbnormalityAbnormality of limbsAge of onseAge of onsetNeoplasiaNeoplasiaImmunologicImmunological abnormalityHematologicHematological abnormalityMultifactorMultifactorial
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000126 Hydronephrosis 
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0002509 Limb hypertonia 
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 HP:0003593 Early onset 
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 HP:0006721 Acute lymphatic leukemia "A form of acute leukemia characterized by excess lympoblasts." [HPO:curators]
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 HP:0007772 Impaired smooth pursuit in adult patients 
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 HP:0010982 Polygenic inheritance "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961]
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 HP:0100704 Cortical visual impairment "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000088256 GNA11 / P29992 / G protein subunit alpha 11  / complex / reaction
 ENSG00000114349 GNAT1 / P11488 / G protein subunit alpha transducin 1  / complex / reaction
 ENSG00000127928 GNGT1 / P63211 / G protein subunit gamma transducin 1  / complex / reaction
 ENSG00000128617 OPN1SW / P03999 / opsin 1, short wave sensitive  / complex / reaction
 ENSG00000127533 F2RL3 / Q96RI0 / F2R like thrombin or trypsin receptor 3  / complex / reaction
 ENSG00000123700 KCNJ2 / P63252 / potassium voltage-gated channel subfamily J member 2  / complex
 ENSG00000087460 GNAS / O95467 / Q5JWF2 / P63092 / P84996 / GNAS complex locus  / complex / reaction
 ENSG00000136940 PDCL / Q13371 / phosducin like  / complex
 ENSG00000060558 GNA15 / P30679 / G protein subunit alpha 15  / complex / reaction
 ENSG00000141506 PIK3R5 / Q8WYR1 / phosphoinositide-3-kinase regulatory subunit 5  / complex / reaction
 ENSG00000156052 GNAQ / P50148 / G protein subunit alpha q  / complex / reaction
 ENSG00000163914 RHO / P08100 / rhodopsin  / complex / reaction
 ENSG00000162989 KCNJ3 / P48549 / potassium voltage-gated channel subfamily J member 3  / complex
 ENSG00000164220 F2RL2 / O00254 / coagulation factor II thrombin receptor like 2  / complex / reaction
 ENSG00000153822 KCNJ16 / Q9NPI9 / potassium voltage-gated channel subfamily J member 16  / complex
 ENSG00000146535 GNA12 / Q03113 / G protein subunit alpha 12  / complex / reaction
 ENSG00000168135 KCNJ4 / P48050 / potassium voltage-gated channel subfamily J member 4  / complex
 ENSG00000150594 ADRA2A / P08913 / adrenoceptor alpha 2A  / complex / reaction
 ENSG00000169860 P2RY1 / P47900 / purinergic receptor P2Y1  / complex / reaction
 ENSG00000160013 PTGIR / P43119 / prostaglandin I2 receptor  / complex / reaction
 ENSG00000157551 KCNJ15 / Q99712 / potassium voltage-gated channel subfamily J member 15  / complex
 ENSG00000181104 F2R / P25116 / coagulation factor II thrombin receptor  / complex / reaction
 ENSG00000156049 GNA14 / O95837 / G protein subunit alpha 14  / complex / reaction
 ENSG00000120457 KCNJ5 / P48544 / potassium voltage-gated channel subfamily J member 5  / complex
 ENSG00000184185 KCNJ12 / Q14500 / potassium voltage-gated channel subfamily J member 12  / complex
 ENSG00000184160 ADRA2C / P18825 / adrenoceptor alpha 2C  / complex / reaction
 ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2  / complex / reaction
 ENSG00000105851 P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma  / complex / reaction
 ENSG00000134183 GNAT2 / P19087 / G protein subunit alpha transducin 2  / complex
 ENSG00000162728 KCNJ9 / Q92806 / potassium voltage-gated channel subfamily J member 9  / complex
 ENSG00000177807 KCNJ10 / P78508 / potassium voltage-gated channel subfamily J member 10  / complex
 ENSG00000006638 P21731 / TBXA2R / thromboxane A2 receptor  / complex / reaction
 ENSG00000102076 OPN1LW / P04000 / opsin 1, long wave sensitive  / complex / reaction
 ENSG00000163873 GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3  / complex / reaction
 ENSG00000101327 PDYN / P01213 / prodynorphin  / complex / reaction
 ENSG00000112038 OPRM1 / P35372 / opioid receptor mu 1  / complex / reaction
 ENSG00000114353 GNAI2 / P04899 / G protein subunit alpha i2  / complex / reaction
 ENSG00000115138 POMC / P01189 / proopiomelanocortin  / complex / reaction
 ENSG00000136928 GABBR2 / O75899 / gamma-aminobutyric acid type B receptor subunit 2  / complex
 ENSG00000087258 GNAO1 / P09471 / G protein subunit alpha o1  / complex
 ENSG00000137841 PLCB2 / Q00722 / phospholipase C beta 2  / complex / reaction
 ENSG00000169313 P2RY12 / Q9H244 / purinergic receptor P2Y12  / complex / reaction
 ENSG00000170214 ADRA1B / P35368 / adrenoceptor alpha 1B  / complex / reaction
 ENSG00000149782 PLCB3 / Q01970 / phospholipase C beta 3  / complex / reaction
 ENSG00000120907 ADRA1A / P35348 / adrenoceptor alpha 1A  / complex / reaction
 ENSG00000141404 GNAL / P38405 / G protein subunit alpha L  / complex / reaction
 ENSG00000182621 PLCB1 / Q9NQ66 / phospholipase C beta 1  / complex / reaction
 ENSG00000127955 GNAI1 / P63096 / G protein subunit alpha i1  / complex / reaction
 ENSG00000204681 GABBR1 / Q9UBS5 / gamma-aminobutyric acid type B receptor subunit 1  / complex
 ENSG00000065135 GNAI3 / P08754 / G protein subunit alpha i3  / complex / reaction
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / reaction
 ENSG00000171873 ADRA1D / P25100 / adrenoceptor alpha 1D  / complex / reaction
 ENSG00000214415 GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3  / complex / reaction
 ENSG00000120063 GNA13 / Q14344 / G protein subunit alpha 13  / complex / reaction
 ENSG00000128266 GNAZ / P19086 / G protein subunit alpha z  / complex / reaction
 ENSG00000215644 GCGR / P47871 / glucagon receptor  / reaction
 ENSG00000268221 OPN1MW / P04001 / opsin 1, medium wave sensitive  / complex / reaction
 ENSG00000157542 KCNJ6 / P48051 / potassium voltage-gated channel subfamily J member 6  / complex
 ENSG00000276231 PIK3R6 / Q5UE93 / phosphoinositide-3-kinase regulatory subunit 6  / complex / reaction
 ENSG00000274286 ADRA2B / P18089 / adrenoceptor alpha 2B  / complex / reaction






 

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