Human Gene GNAO1 (ENST00000262494.13) from GENCODE V44
  Description: Homo sapiens G protein subunit alpha o1 (GNAO1), transcript variant 2, mRNA. (from RefSeq NM_138736)
RefSeq Summary (NM_138736): The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015].
Gencode Transcript: ENST00000262494.13
Gencode Gene: ENSG00000087258.16
Transcript (Including UTRs)
   Position: hg38 chr16:56,191,489-56,348,199 Size: 156,711 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr16:56,192,236-56,343,950 Size: 151,715 Coding Exon Count: 8 

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 (chr16:56,191,489-56,348,199)mRNA (may differ from genome)Protein (354 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GNAO_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(o) subunit alpha;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.
SUBUNIT: Interacts with RGS14 (By similarity). G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily.

-  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: GNAO1
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 17* (1331), neurodevelopmental disorder with involuntary movements* (900), epileptic encephalopathy, early infantile, 15* (442), west syndrome* (141), encephalopathy (16), congenital stationary night blindness (2)
* = 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: 52.83 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 658.62 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 -317.20747-0.425 Picture PostScript Text
3' UTR -1770.204249-0.417 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
IPR001408 - Gprotein_alpha_I
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00503 - G-protein alpha subunit

ModBase Predicted Comparative 3D Structure on P09471
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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 BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005102 receptor binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031821 G-protein coupled serotonin receptor binding
GO:0031852 mu-type opioid receptor binding
GO:0032794 GTPase activating protein binding
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding
GO:0051430 corticotropin-releasing hormone receptor 1 binding

Biological Process:
GO:0006457 protein folding
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007212 dopamine receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007568 aging
GO:0007626 locomotory behavior
GO:0008016 regulation of heart contraction
GO:0009987 cellular process
GO:0010243 response to organonitrogen compound
GO:0014070 response to organic cyclic compound
GO:0030900 forebrain development
GO:0031175 neuron projection development
GO:0034097 response to cytokine
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0043278 response to morphine
GO:0043547 positive regulation of GTPase activity
GO:0051926 negative regulation of calcium ion transport

Cellular Component:
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0032991 macromolecular complex
GO:0043005 neuron projection
GO:0043209 myelin sheath
GO:0044297 cell body


-  Descriptions from all associated GenBank mRNAs
  AK056008 - Homo sapiens cDNA FLJ31446 fis, clone NT2NE2000909, highly similar to Guanine nucleotide-binding protein G(o) subunit alpha 1.
CR936770 - Homo sapiens mRNA; cDNA DKFZp686N0750 (from clone DKFZp686N0750).
EU832529 - Synthetic construct Homo sapiens clone HAIB:100067558; DKFZo004A0330 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O protein (GNAO1) gene, encodes complete protein.
EU832446 - Synthetic construct Homo sapiens clone HAIB:100067475; DKFZo008A0329 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O protein (GNAO1) gene, encodes complete protein.
AB463710 - Synthetic construct DNA, clone: pF1KB3867, Homo sapiens GNAO1 gene for guanine nucleotide binding protein alpha activating activity polypeptide O, without stop codon, in Flexi system.
KR081949 - Homo sapiens GO2-q chimeric G-protein mRNA, complete cds.
AF493895 - Homo sapiens guanine nucleotide binding protein alpha oB (GNAO2) mRNA, complete cds.
AF493894 - Homo sapiens guanine nucleotide binding protein alpha oA (GNAO1) mRNA, complete cds.
BC030027 - Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O, mRNA (cDNA clone MGC:33450 IMAGE:4791738), complete cds.
CU688812 - Synthetic construct Homo sapiens gateway clone IMAGE:100018776 5' read GNAO1 mRNA.
KJ901458 - Synthetic construct Homo sapiens clone ccsbBroadEn_10852 GNAO1 gene, encodes complete protein.
DQ586805 - Homo sapiens piRNA piR-53917, complete sequence.
BX647214 - Homo sapiens mRNA; cDNA DKFZp686O0962 (from clone DKFZp686O0962).
Y18213 - Homo sapiens mRNA for Go protein, partial.
AK295680 - Homo sapiens cDNA FLJ52609 complete cds.
AL512686 - Homo sapiens mRNA; cDNA DKFZp761I177 (from clone DKFZp761I177).
DQ577778 - Homo sapiens piRNA piR-45890, complete sequence.
DQ599546 - Homo sapiens piRNA piR-37612, complete sequence.

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

Protein P09471 (Reactome details) participates in the following event(s):

R-HSA-8850560 G-protein alpha releases G-protein heterotrimer from PDCL
R-HSA-3965447 G-protein subunits dissociate from WNT:FZD complex
R-HSA-167433 G-protein beta-gamma subunits rebind the alpha-GDP subunit
R-HSA-112037 Inactivation of PLC beta
R-HSA-167415 G-protein alpha subunit is inactivated
R-HSA-111870 Activation of PLC beta-1/4
R-HSA-112271 The receptor:G-protein complex dissociates
R-HSA-167429 The receptor:G-protein complex binds GTP
R-HSA-167408 The high affinity receptor complex binds to G-protein
R-HSA-167419 The receptor:G-protein complex releases GDP
R-HSA-3965441 FZD recruits trimeric G-proteins
R-HSA-3965444 WNT:FZD complex promotes G-protein nucleotide exchange
R-HSA-111879 PIP2 hydrolysis
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-4086398 Ca2+ pathway
R-HSA-202040 G-protein activation
R-HSA-112043 PLC beta mediated events
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-111885 Opioid Signalling
R-HSA-112040 G-protein mediated events
R-HSA-391251 Protein folding
R-HSA-195721 Signaling by WNT
R-HSA-418594 G alpha (i) signalling events
R-HSA-392499 Metabolism of proteins
R-HSA-162582 Signal Transduction
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000262494.1, ENST00000262494.10, ENST00000262494.11, ENST00000262494.12, ENST00000262494.2, ENST00000262494.3, ENST00000262494.4, ENST00000262494.5, ENST00000262494.6, ENST00000262494.7, ENST00000262494.8, ENST00000262494.9, GNAO_HUMAN, NM_138736, P09471, P29777, Q8TD72, Q9UMV4, uc002eit.1, uc002eit.2, uc002eit.3, uc002eit.4, uc002eit.5, uc002eit.6, uc002eit.7
UCSC ID: ENST00000262494.13
RefSeq Accession: NM_138736
Protein: P09471 (aka GNAO_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNAO1:
gnao1-dis (GNAO1-Related Disorder)

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