Details for: GNAO1

Gene ID: 2775

Symbol: GNAO1

Ensembl ID: ENSG00000087258

Description: G protein subunit alpha o1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 4.04
    Marker Score: 21728
  • Cell Name: granule cell (CL0000120)
    Fold Change: 4.03
    Marker Score: 30410
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.72
    Marker Score: 5229
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.7
    Marker Score: 125038
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 3.62
    Marker Score: 19013
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 3.38
    Marker Score: 1766
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.92
    Marker Score: 6721
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.8
    Marker Score: 59801
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.77
    Marker Score: 6642
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.7
    Marker Score: 12509
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.66
    Marker Score: 52974
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.47
    Marker Score: 37001
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.41
    Marker Score: 91555
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.38
    Marker Score: 9847
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.35
    Marker Score: 1218
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 2.28
    Marker Score: 7645
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.28
    Marker Score: 17456
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.26
    Marker Score: 8736
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.24
    Marker Score: 3768
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.17
    Marker Score: 80124
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20220
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.04
    Marker Score: 125207
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.99
    Marker Score: 4047
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.98
    Marker Score: 20441
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.9
    Marker Score: 18095
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.9
    Marker Score: 1253
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.88
    Marker Score: 7645
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.84
    Marker Score: 15823
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.78
    Marker Score: 598
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.77
    Marker Score: 681
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.75
    Marker Score: 7279
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.66
    Marker Score: 4738
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.66
    Marker Score: 695
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.65
    Marker Score: 1848
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.64
    Marker Score: 2524
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.61
    Marker Score: 1946
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1165
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.6
    Marker Score: 1508.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.58
    Marker Score: 1573
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.54
    Marker Score: 895
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.5
    Marker Score: 477
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168933
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.44
    Marker Score: 1250
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.43
    Marker Score: 391
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.41
    Marker Score: 5014
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.31
    Marker Score: 629
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.29
    Marker Score: 722
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.26
    Marker Score: 19746
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.25
    Marker Score: 2360
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.22
    Marker Score: 1405
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4807
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.14
    Marker Score: 375
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.13
    Marker Score: 456
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.13
    Marker Score: 343
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.12
    Marker Score: 2272
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.11
    Marker Score: 666
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.09
    Marker Score: 1348
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.09
    Marker Score: 690
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 792
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1
    Marker Score: 373
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1
    Marker Score: 800
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.99
    Marker Score: 468.5
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.98
    Marker Score: 1227
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.97
    Marker Score: 487.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.94
    Marker Score: 9558
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.93
    Marker Score: 5616
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5320
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.92
    Marker Score: 2383
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.9
    Marker Score: 3483
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.88
    Marker Score: 404
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.87
    Marker Score: 253
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.82
    Marker Score: 397
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.78
    Marker Score: 464
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.78
    Marker Score: 372
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.77
    Marker Score: 1346
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.74
    Marker Score: 3197
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.74
    Marker Score: 365
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.74
    Marker Score: 4728
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.74
    Marker Score: 1732
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.71
    Marker Score: 228
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.69
    Marker Score: 837.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.65
    Marker Score: 146
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.6
    Marker Score: 188
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.6
    Marker Score: 700
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.59
    Marker Score: 225
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.59
    Marker Score: 3197

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Other Information

**Key characteristics:** * The GNAO1 gene is located on chromosome 15q26.1. * It is a large gene with a length of approximately 2.8 kb. * GNAO1 contains 14 exons and 13 introns. * The protein encoded by GNAO1 is a single-pass transmembrane protein with a molecular weight of approximately 140 kDa. **Pathways and functions:** * GNAO1 is involved in the Adenylate cyclase-modulating g protein-coupled receptor signaling pathway, Beta-catenin independent wnt signaling, Ca2+ pathway, Corticotropin-releasing hormone receptor 1 binding, Cytoplasm, Dopamine receptor signaling pathway, G-protein beta/gamma-subunit complex binding, G protein-coupled serotonin receptor binding, Gtpase activity, Gtp binding, Heterotrimeric g-protein complex, Metal ion binding, Mu-type opioid receptor binding, Muscle contraction. **Clinical significance:** * Mutations in GNAO1 have been linked to several human diseases, including autism, schizophrenia, and depression. * GNAO1 is a potential therapeutic target for these disorders. **Additional notes:** * GNAO1 is a highly conserved gene, with a similar gene found in other mammals. * The expression of GNAO1 is often upregulated in brain tumors. * GNAO1 is a promising target for the treatment of neurodegenerative diseases.

Genular Protein ID: 3966438567

Symbol: GNAO_HUMAN

Name: Guanine nucleotide-binding protein G(o) subunit alpha

UniProtKB Accession Codes:

P09471 P29777 Q8TD72 Q9UMV4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 19 EMDB 26 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 30 PDBsum 24 PIR 2 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1901650

Title: Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing.

PubMed ID: 1901650

DOI: 10.1073/pnas.88.8.2974

PubMed ID: 3124840

Title: Molecular cloning and DNA sequence analysis of the human guanine nucleotide-binding protein Go alpha.

PubMed ID: 3124840

DOI: 10.1016/0006-291x(88)90463-9

PubMed ID: 10330115

Title: Identification and expression of GO1 and 2 alpha-subunit transcripts in human myometrium in relation to pregnancy.

PubMed ID: 10330115

DOI: 10.1095/biolreprod60.6.1528

PubMed ID: 25255805

Title: Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.

PubMed ID: 25255805

DOI: 10.1038/ncomms5919

PubMed ID: 23993195

Title: De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PubMed ID: 23993195

DOI: 10.1016/j.ajhg.2013.07.014

PubMed ID: 26485252

Title: Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PubMed ID: 26485252

DOI: 10.1016/j.cca.2015.10.011

PubMed ID: 26060304

Title: Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.

PubMed ID: 26060304

DOI: 10.1177/0883073815587945

PubMed ID: 27625011

Title: Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.

PubMed ID: 27625011

DOI: 10.1177/0883073816666474

PubMed ID: 27068059

Title: Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.

PubMed ID: 27068059

DOI: 10.1016/j.pediatrneurol.2016.02.018

PubMed ID: 27476654

Title: De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.

PubMed ID: 27476654

DOI: 10.1016/j.ajhg.2016.06.003

PubMed ID: 25966631

Title: Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PubMed ID: 25966631

DOI: 10.1038/ejhg.2015.92

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28357411

Title: GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PubMed ID: 28357411

DOI: 10.1212/nxg.0000000000000143

PubMed ID: 29390993

Title: Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

PubMed ID: 29390993

DOI: 10.1186/s12920-018-0320-7

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

Sequence Information:

  • Length: 354
  • Mass: 40051
  • Checksum: 4F182926A8106E3E
  • Sequence:
    • MGCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV KQMKIIHEDG 
FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER KADAKMVCDV VSRMEDTEPF 
SAELLSAMMR LWGDSGIQEC FNRSREYQLN DSAKYYLDSL DRIGAADYQP TEQDILRTRV 
KTTGIVETHF TFKNLHFRLF DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET 
TNRMHESLML FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA 
AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG CGLY

Genular Protein ID: 1535747937

Symbol: B3KP89_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KP89

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 EMDB 1 GO 5 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 1 PharmGKB 1 RefSeq 2 SMART 1 SUPFAM 2

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 354
  • Mass: 39934
  • Checksum: E1FA9988B5AF33EE
  • Sequence:
    • MGCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV KQMKIIHEDG 
FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER KADAKMVCDV VSRMEDTEPF 
SAELLSAMMR LWGGSGIQEC FNRSREYQLN GSAKYYLDSL DRIGAADYQP TEQDILRTRV 
KTTGIVETHF TFKNLHFRLF DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET 
TNRMHESLML FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA 
AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG CGLY

Genular Protein ID: 3597215471

Symbol: Q8N6I9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N6I9

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 5 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 2 SMART 1 SMR 1 SUPFAM 2

Citations:

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

Sequence Information:

  • Length: 302
  • Mass: 34609
  • Checksum: B6902F0B0AA8DE09
  • Sequence:
    • MKIIHEDGFS GEDVKQYKPV VYSNTIQSLA AIVRAMDTLG IEYGDKERKA DAKMVCDVVS 
RMEDTEPFSA ELLSAMMRLW GDSGIQECFN RSREYQLNDS AKYYLDSLDR IGAADYQPTE 
QDILRTRVKT TGIVETHFTF KNLHFRLFDV GGQRSERKKW IHCFEDVTAI IFCVALSGYD 
QVLHEDETTN RMHESLMLFD SICNNKFFID TSIILFLNKK DLFGEKIKKS PLTICFPEYT 
GPNTYEDAAA YIQAQFESKN RSPNKEIYCH MTCATDTNNI QVVFDAVTDI IIANNLRGCG 
LY

Genular Protein ID: 2895488985

Symbol: Q6AWC5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6AWC5

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 4 Gene3D 1 Genevisible 1 GenomeRNAi 1 IntAct 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 113
  • Mass: 12951
  • Checksum: D471775FFC6B29F8
  • Sequence:
    • NRMHESLKLF DSICNNKWFT DTSIILFLNK KDIFEEKIKK SPLTICFPEY TGPSAFTEAV 
AYIQAQYESK NKSAHKEIYT HVTCATDTNN IQFVFDAVTD VIIAKNLRGC GLY

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. For the full schema, download it here.