Human Gene GNB5 (ENST00000358784.11) from GENCODE V44
  Description: Homo sapiens G protein subunit beta 5 (GNB5), transcript variant 1, mRNA. (from RefSeq NM_006578)
RefSeq Summary (NM_006578): 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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000358784.11
Gencode Gene: ENSG00000069966.19
Transcript (Including UTRs)
   Position: hg38 chr15:52,122,206-52,180,001 Size: 57,796 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr15:52,122,757-52,179,879 Size: 57,123 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:52,122,206-52,180,001)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBB5_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein subunit beta-5; AltName: Full=Gbeta5; AltName: Full=Transducin beta chain 5;
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. Component of the RGS9-1-Gbeta5 complex composed of RGS9 (isoform RGS9-1), Gbeta5 (GNB5) and RGS9BP (By similarity).
TISSUE SPECIFICITY: Expressed in multiple tissues.
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: GNB5
Diseases sorted by gene-association score: intellectual developmental disorder with cardiac arrhythmia* (919), language delay and adhd/cognitive impairment with or without cardiac arrhythmia* (800), attention deficit-hyperactivity disorder (11), bradyopsia (7), miller fisher syndrome (6)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.58 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 186.32 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 -75.10122-0.616 Picture PostScript Text
3' UTR -120.00551-0.218 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

ModBase Predicted Comparative 3D Structure on O14775
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0031682 G-protein gamma-subunit binding
GO:0051087 chaperone binding

Biological Process:
GO:0006457 protein folding
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007212 dopamine receptor signaling pathway
GO:0043547 positive regulation of GTPase activity
GO:1901386 negative regulation of voltage-gated calcium channel activity

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0043209 myelin sheath
GO:1902773 GTPase activator complex


-  Descriptions from all associated GenBank mRNAs
  AL117471 - Homo sapiens mRNA; cDNA DKFZp586O1922 (from clone DKFZp586O1922).
BC013997 - Homo sapiens guanine nucleotide binding protein (G protein), beta 5, mRNA (cDNA clone MGC:20022 IMAGE:3621195), complete cds.
AF017656 - Homo sapiens G protein beta 5 subunit mRNA, complete cds.
AK290330 - Homo sapiens cDNA FLJ78228 complete cds, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), beta 5(GNB5), transcript variant 1, mRNA.
AB528747 - Synthetic construct DNA, clone: pF1KE0107, Homo sapiens GNB5 gene for guanine nucleotide binding protein (G protein), beta 5, without stop codon, in Flexi system.
AM393025 - Synthetic construct Homo sapiens clone IMAGE:100001675 for hypothetical protein (GNB5 gene).
KJ893111 - Synthetic construct Homo sapiens clone ccsbBroadEn_02505 GNB5 gene, encodes complete protein.
AF501885 - Homo sapiens guanine nucleotide binding protein beta 5 (GNB5) mRNA, complete cds.
AK314775 - Homo sapiens cDNA, FLJ95645, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), beta 5(GNB5), transcript variant 1, mRNA.
AF300650 - Homo sapiens guanine nucleotide binding protein beta subunit 5L (GNB5) mRNA, complete cds.
BC011671 - Homo sapiens guanine nucleotide binding protein (G protein), beta 5, mRNA (cDNA clone IMAGE:4131809), complete cds.
KJ902144 - Synthetic construct Homo sapiens clone ccsbBroadEn_11538 GNB5 gene, encodes complete protein.
AK094776 - Homo sapiens cDNA FLJ37457 fis, clone BRAWH2011155.
AK125702 - Homo sapiens cDNA FLJ43714 fis, clone TESOP2004214, highly similar to Guanine nucleotide-binding protein subunit beta 5.
JD421323 - Sequence 402347 from Patent EP1572962.
JD553227 - Sequence 534251 from Patent EP1572962.
JD287678 - Sequence 268702 from Patent EP1572962.
JD131283 - Sequence 112307 from Patent EP1572962.
JD483979 - Sequence 465003 from Patent EP1572962.
JD286300 - Sequence 267324 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04062 - Chemokine signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O14775 (Reactome details) participates in the following event(s):

R-HSA-74615 PRKCA/Q phosphorylate RGS9-1:GN5B:RGS9BP
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-2514856 The phototransduction cascade
R-HSA-2187338 Visual phototransduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction
R-HSA-6814119 TRiC/CCT binds unfolded G-protein beta subunit
R-HSA-8850529 RGS proteins bind GNB5 and CCT/TRiC
R-HSA-8850534 PDCL promotes G-protein beta 5 folding
R-HSA-8850539 Release of GNB5:RGS dimers from CCT/TRiC
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-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-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-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-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-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-432195 AVP:AVPR2:heterotrimeric G(s) complex exchanges GDP for GTP
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-114552 G12/13 activation by PAR
R-HSA-751029 Liganded G12/13-activating GPCR acts as a GEF for G12/13
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-390466 Chaperonin-mediated protein folding
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-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-418555 G alpha (s) 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-391251 Protein folding
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-422356 Regulation of insulin secretion
R-HSA-445717 Aquaporin-mediated transport
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-388396 GPCR downstream signalling
R-HSA-392518 Signal amplification
R-HSA-418346 Platelet homeostasis
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392499 Metabolism of proteins
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-163685 Energy Metabolism
R-HSA-382551 Transport of small molecules
R-HSA-451326 Activation of kainate receptors upon glutamate binding
R-HSA-195721 Signaling by WNT
R-HSA-372790 Signaling by GPCR
R-HSA-109582 Hemostasis
R-HSA-500792 GPCR ligand binding
R-HSA-1430728 Metabolism
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-162582 Signal Transduction
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000358784.1, ENST00000358784.10, ENST00000358784.2, ENST00000358784.3, ENST00000358784.4, ENST00000358784.5, ENST00000358784.6, ENST00000358784.7, ENST00000358784.8, ENST00000358784.9, GBB5_HUMAN, NM_006578, O14775, Q9HAU9, Q9UFT3, uc002abr.1, uc002abr.2
UCSC ID: ENST00000358784.11
RefSeq Accession: NM_006578
Protein: O14775 (aka GBB5_HUMAN)
CCDS: CCDS45261.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNB5:
gnb5-ndd (GNB5-Related Neurodevelopmental Disorder )

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