Human Gene GNB1 (ENST00000378609.9_7) from GENCODE V47lift37
  Description: G protein subunit beta 1, transcript variant 1 (from RefSeq NM_002074.5)
Gencode Transcript: ENST00000378609.9_7
Gencode Gene: ENSG00000078369.19_12
Transcript (Including UTRs)
   Position: hg19 chr1:1,716,725-1,822,526 Size: 105,802 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr1:1,718,770-1,756,892 Size: 38,123 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:1,716,725-1,822,526)mRNA (may differ from genome)Protein (340 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBB1_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; AltName: Full=Transducin beta chain 1;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction.
SUBUNIT: G proteins are composed of 3 units, alpha, beta and gamma. Interacts with ARHGEF18 and RASD2. The heterodimer formed by GNB1 and GNG2 interacts with PTH1R (via C-terminus).
PTM: Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP (By similarity).
SIMILARITY: Belongs to the WD repeat G protein beta family.
SIMILARITY: Contains 7 WD repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNB1
Diseases sorted by gene-association score: mental retardation, autosomal dominant 42* (1231), leukemia, acute lymphoblastic* (520), cerebral visual impairment* (400), mechanical strabismus* (231), strabismus* (200), seizure disorder* (141), visual epilepsy* (133), intellectual disability* (87), alacrima, achalasia, and mental retardation syndrome* (74), hemiplegic migraine (5), retinitis pigmentosa (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 198.75 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 4735.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -167.80363-0.462 Picture PostScript Text
3' UTR -485.601777-0.273 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR001632 - Gprotein_B
IPR016346 - Guanine_nucleotide-bd_bsu
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on P62873
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0030507 spectrin binding
GO:0031702 type 1 angiotensin receptor binding
GO:0044877 macromolecular complex binding
GO:0047391 alkylglycerophosphoethanolamine phosphodiesterase activity
GO:0051020 GTPase binding

Biological Process:
GO:0006457 protein folding
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007265 Ras protein signal transduction
GO:0008283 cell proliferation
GO:0010659 cardiac muscle cell apoptotic process
GO:0016056 rhodopsin mediated signaling pathway
GO:0030168 platelet activation
GO:0050909 sensory perception of taste
GO:0060041 retina development in camera-type eye
GO:0070208 protein heterotrimerization
GO:0071380 cellular response to prostaglandin E stimulus
GO:0071456 cellular response to hypoxia
GO:0071870 cellular response to catecholamine stimulus

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005622 intracellular
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0042622 photoreceptor outer segment membrane
GO:0043209 myelin sheath
GO:0044297 cell body
GO:0070062 extracellular exosome
GO:0097381 photoreceptor disc membrane
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  X04526 - Human liver mRNA for beta-subunit signal transducing proteins Gs/Gi (beta-G).
AK122949 - Homo sapiens cDNA FLJ16663 fis, clone THYMU2005759, highly similar to Guanine nucleotide-binding proteinG(I)/G(S)/G(T) subunit beta 1.
BC005888 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1, mRNA (cDNA clone MGC:4855 IMAGE:3605228), complete cds.
BC004186 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1, mRNA (cDNA clone MGC:2819 IMAGE:2964393), complete cds.
JD155549 - Sequence 136573 from Patent EP1572962.
JD297778 - Sequence 278802 from Patent EP1572962.
JD036893 - Sequence 17917 from Patent EP1572962.
BC127205 - Homo sapiens cDNA clone IMAGE:40082157.
JD276505 - Sequence 257529 from Patent EP1572962.
JD347089 - Sequence 328113 from Patent EP1572962.
JD251493 - Sequence 232517 from Patent EP1572962.
JD370515 - Sequence 351539 from Patent EP1572962.
JD547491 - Sequence 528515 from Patent EP1572962.
JD288085 - Sequence 269109 from Patent EP1572962.
JD481974 - Sequence 462998 from Patent EP1572962.
JD481680 - Sequence 462704 from Patent EP1572962.
JD442188 - Sequence 423212 from Patent EP1572962.
JD421825 - Sequence 402849 from Patent EP1572962.
JD467582 - Sequence 448606 from Patent EP1572962.
AF070597 - Homo sapiens clone 24596 beta-subunit signal transducing proteins GS/GI mRNA, partial cds.
AF070603 - Homo sapiens clone 24584 beta-subunit signal transducing proteins GS/GI mRNA, partial cds.
JD299252 - Sequence 280276 from Patent EP1572962.
JD063159 - Sequence 44183 from Patent EP1572962.
JD348506 - Sequence 329530 from Patent EP1572962.
JD164589 - Sequence 145613 from Patent EP1572962.
JD054174 - Sequence 35198 from Patent EP1572962.
JD040583 - Sequence 21607 from Patent EP1572962.
JD300374 - Sequence 281398 from Patent EP1572962.
JD022404 - Sequence 3428 from Patent EP1572962.
JD393581 - Sequence 374605 from Patent EP1572962.
JD242133 - Sequence 223157 from Patent EP1572962.
JD327821 - Sequence 308845 from Patent EP1572962.
BC008991 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1, mRNA (cDNA clone MGC:18208 IMAGE:4155946), complete cds.
JD306015 - Sequence 287039 from Patent EP1572962.
M36430 - Human transducin beta-1 subunit mRNA, 3' end.
JD365874 - Sequence 346898 from Patent EP1572962.
HM005385 - Homo sapiens clone HTL-T-72 testicular tissue protein Li 72 mRNA, complete cds.
AF501882 - Homo sapiens guanine nucleotide binding protein beta 1 (GNB1) mRNA, complete cds.
CR456784 - Homo sapiens full open reading frame cDNA clone RZPDo834G064D for gene GNB1, guanine nucleotide binding protein (G protein), beta polypeptide 1; complete cds, incl. stopcodon.
AK312614 - Homo sapiens cDNA, FLJ92996, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.
BT007305 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 mRNA, complete cds.
KJ891260 - Synthetic construct Homo sapiens clone ccsbBroadEn_00654 GNB1 gene, encodes complete protein.
AB463706 - Synthetic construct DNA, clone: pF1KB3441, Homo sapiens GNB1 gene for guanine nucleotide binding protein (G protein), beta polypeptide 1, without stop codon, in Flexi system.
BC114618 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1, mRNA (cDNA clone IMAGE:40032959), partial cds.
AK096614 - Homo sapiens cDNA FLJ39295 fis, clone OCBBF2012714, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN G(I)/G(S)/G(T) BETA SUBUNIT 1.
CU679219 - Synthetic construct Homo sapiens gateway clone IMAGE:100019007 5' read GNB1 mRNA.
JD410651 - Sequence 391675 from Patent EP1572962.
JD336869 - Sequence 317893 from Patent EP1572962.
JD484017 - Sequence 465041 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P62873 (Reactome details) participates in the following event(s):

R-HSA-381749 G Protein trimer formation (olfactory)
R-HSA-74882 GNAT1-GDP binds to GNB1:GNGT1
R-HSA-2485182 Gt-GTP dissociates to GNAT1-GTP and GNB1:GNGT1
R-HSA-381750 Olfactory Receptor - G Protein olfactory trimer complex formation
R-HSA-6814119 TRiC/CCT binds unfolded G-protein beta subunit
R-HSA-2485180 MII catalyses GDP/GTP exchange on Gt
R-HSA-6814124 ATP binds G-protein beta associated TRiC/CCT
R-HSA-6814120 ATP hydrolysis promotes folding of G-protein beta by TRiC/CCT
R-HSA-825631 Glucagon:GCGR mediates GTP-GDP exchange
R-HSA-167433 G-protein beta-gamma subunits rebind the alpha-GDP subunit
R-HSA-392295 Gbeta:gamma recruits PI3K gamma
R-HSA-398040 Gbeta:gamma activation of PLC beta
R-HSA-750988 Inactive G alpha (z) reassociates with G beta:gamma
R-HSA-750993 Inactive G alpha (q) reassociates with G beta:gamma
R-HSA-751001 Inactive G alpha (i) reassociates with G beta:gamma
R-HSA-751013 Inactive G alpha (s) reassociates with G beta:gamma
R-HSA-751039 Inactive G alpha (12/13) reassociates with G beta:gamma
R-HSA-112271 The receptor:G-protein complex dissociates
R-HSA-392202 Dissociation of the P2Y purinoceptor 12:Gi complex
R-HSA-392874 Dissociation of the Prostacyclin receptor:Gs complex
R-HSA-397835 Dissociation of the PAR:Gq complex
R-HSA-397891 Dissociation of the PAR:G12/13 complex
R-HSA-418576 Dissociation of the P2Y purinoceptor 1:Gq complex
R-HSA-428752 Dissociation of the TP:Gq complex
R-HSA-428918 Dissociation of the TP:G13 complex
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-751019 The Ligand:GPCR:G12/13 complex dissociates
R-HSA-751024 The Ligand:GPCR:Gz complex dissociates
R-HSA-3965447 G-protein subunits dissociate from WNT:FZD complex
R-HSA-8982640 G-alpha(t):G-beta-gamma:Opsins complex dissociates to active G-alpha(t)
R-HSA-6814418 PDCL promotes formation of G-beta:G-gamma heterodimers
R-HSA-8850527 PDCL releases folded G-beta from TRiC/CCT
R-HSA-8850560 G-protein alpha releases G-protein heterotrimer from PDCL
R-HSA-400097 G-beta:G-gamma inhibits Adenylate cyclase
R-HSA-400037 Gi,Go Heterotrimeric G-protein complex dissociates
R-HSA-422320 Heterotrimeric G(s) complex dissociates
R-HSA-6814121 PDCL binds G-protein beta and TRiC/CCT
R-HSA-167429 The receptor:G-protein complex binds GTP
R-HSA-167419 The receptor:G-protein complex releases GDP
R-HSA-396996 Thrombin-activated PAR binds G-protein Gq
R-HSA-418581 Activated P2Y purinoceptor 1 binds G-protein Gq
R-HSA-428749 Activated TP receptor binds G-proten Gq
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-167408 The high affinity receptor complex binds to G-protein
R-HSA-392852 Activated prostacyclin receptor binds G-protein Gs
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-749446 Liganded Gz-activating GPCRs bind inactive heterotrimeric G-protein Gz
R-HSA-392187 Activated P2Y purinoceptor 12 binds G-protein Gi
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-500717 Activation of GRIK3 homomer
R-HSA-428909 Activated TP receptor binds G-protein G13
R-HSA-8982637 Opsins binds G alpha-t
R-HSA-3965444 WNT:FZD complex promotes G-protein nucleotide exchange
R-HSA-3965441 FZD recruits trimeric G-proteins
R-HSA-400092 Alpha-2A,alpha-2C Adrenergic Receptors activate Gi.Go heterotrimeric G proteins
R-HSA-381706 GLP-1R:GLP-1 activates G(s)
R-HSA-381612 Glucagon-like Peptide-1 Receptor (GLP1R) binds Glucagon-like peptide-1
R-HSA-432188 AVP:AVPR2 Complex binds inactive heterotrimeric G(s) complex
R-HSA-396941 Thrombin-activated PAR binds G-protein G12/13
R-HSA-751027 Liganded G12/13-activating GPCRs bind inactive heterotrimeric G-protein G12/13
R-HSA-114558 Gq activation by PAR
R-HSA-418579 Gq activation by P2Y purinoceptor 1
R-HSA-428750 Gq activation by TP receptor
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-392870 Gs activation by prostacyclin receptor
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-749453 Liganded Gz-activating GPCR acts as a GEF for Gz
R-HSA-392195 Gi activation by P2Y purinoceptor 12
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-392300 G beta:gamma activated PI3Kgamma converts PIP2 to PIP3
R-HSA-398193 PLC beta-mediated PIP2 hydrolysis
R-HSA-428917 G13 activation by TP receptor
R-HSA-420883 Opsins act as GEFs for G alpha-t
R-HSA-432195 AVP:AVPR2:heterotrimeric G(s) complex exchanges GDP for GTP
R-HSA-1013020 Activation of GIRK/Kir3 Channels
R-HSA-114552 G12/13 activation by PAR
R-HSA-751029 Liganded G12/13-activating GPCR acts as a GEF for G12/13
R-HSA-381753 Olfactory Signaling Pathway
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-418555 G alpha (s) signalling events
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-2514856 The phototransduction cascade
R-HSA-388396 GPCR downstream signalling
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-202040 G-protein activation
R-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-4086398 Ca2+ pathway
R-HSA-418597 G alpha (z) signalling events
R-HSA-416476 G alpha (q) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-392170 ADP signalling through P2Y purinoceptor 12
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-2187338 Visual phototransduction
R-HSA-372790 Signaling by GPCR
R-HSA-391251 Protein folding
R-HSA-163685 Energy Metabolism
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-111885 Opioid Signalling
R-HSA-397795 G-protein beta:gamma signalling
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-392518 Signal amplification
R-HSA-418346 Platelet homeostasis
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-422356 Regulation of insulin secretion
R-HSA-445717 Aquaporin-mediated transport
R-HSA-162582 Signal Transduction
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism
R-HSA-451326 Activation of kainate receptors upon glutamate binding
R-HSA-195721 Signaling by WNT
R-HSA-109582 Hemostasis
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-382551 Transport of small molecules
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
R-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-500792 GPCR ligand binding
R-HSA-991365 Activation of GABAB receptors
R-HSA-1296059 G protein gated Potassium channels
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-977444 GABA B receptor activation
R-HSA-1296065 Inwardly rectifying K+ channels
R-HSA-112316 Neuronal System
R-HSA-977443 GABA receptor activation
R-HSA-1296071 Potassium Channels

-  Other Names for This Gene
  Alternate Gene Symbols: B1AJZ7, ENST00000378609.1, ENST00000378609.2, ENST00000378609.3, ENST00000378609.4, ENST00000378609.5, ENST00000378609.6, ENST00000378609.7, ENST00000378609.8, GBB1_HUMAN, GNB1 , NM_002074, P04697, P04901, P62873, Q1RMY8, uc318okh.1, uc318okh.2
UCSC ID: ENST00000378609.9_7
RefSeq Accession: NM_002074.5
Protein: P62873 (aka GBB1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNB1:
gnb1-e (GNB1 Encephalopathy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.