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Protein

Guanine nucleotide-binding protein G(o) subunit alpha

Gene

GNAO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi47MagnesiumBy similarity1
Metal bindingi182MagnesiumBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei326GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi40 – 47GTPBy similarity8
Nucleotide bindingi176 – 182GTPBy similarity7
Nucleotide bindingi201 – 205GTPBy similarity5
Nucleotide bindingi270 – 273GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransducer
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-112043 PLC beta mediated events
R-HSA-202040 G-protein activation
R-HSA-4086398 Ca2+ pathway
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P09471

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P09471

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(o) subunit alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNAO1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000087258.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4389 GNAO1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
139311 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P09471

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 17 (EIEE17)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements.
See also OMIM:615473
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07541640G → R in EIEE17 and NEDIM. 2 PublicationsCorresponds to variant dbSNP:rs886041715EnsemblClinVar.1
Natural variantiVAR_070864174D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs587777055EnsemblClinVar.1
Natural variantiVAR_070865191 – 197Missing in EIEE17; the mutant protein accumulates in the cytoplasmic compartment; increased basal calcium-current density compared to wild-type. 1 Publication7
Natural variantiVAR_070866203G → R in EIEE17; the mutant protein localizes normally to the cell periphery. 2 PublicationsCorresponds to variant dbSNP:rs587777057EnsemblClinVar.1
Natural variantiVAR_077337209R → C in EIEE17 and NEDIM. 3 PublicationsCorresponds to variant dbSNP:rs886039494EnsemblClinVar.1
Natural variantiVAR_070867279I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 2 PublicationsCorresponds to variant dbSNP:rs587777054EnsemblClinVar.1
Neurodevelopmental disorder with involuntary movements (NEDIM)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum.
See also OMIM:617493
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07541640G → R in EIEE17 and NEDIM. 2 PublicationsCorresponds to variant dbSNP:rs886041715EnsemblClinVar.1
Natural variantiVAR_07927847S → G in NEDIM. 1 Publication1
Natural variantiVAR_07927956I → T in NEDIM. 1 Publication1
Natural variantiVAR_077337209R → C in EIEE17 and NEDIM. 3 PublicationsCorresponds to variant dbSNP:rs886039494EnsemblClinVar.1
Natural variantiVAR_079280209R → G in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs886039494EnsemblClinVar.1
Natural variantiVAR_079281209R → H in NEDIM. 3 PublicationsCorresponds to variant dbSNP:rs797044878EnsemblClinVar.1
Natural variantiVAR_079282209R → L in NEDIM. 1 Publication1
Natural variantiVAR_077338227A → V in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs797045599EnsemblClinVar.1
Natural variantiVAR_079283246E → G in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs1114167431Ensembl.1
Natural variantiVAR_077339246E → K in NEDIM. 2 PublicationsCorresponds to variant dbSNP:rs797044951EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2775

MalaCards human disease database

More...
MalaCardsi
GNAO1
MIMi615473 phenotype
617493 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000087258

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1934 Early infantile epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28771

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4742

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNAO1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
232133

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002037022 – 354Guanine nucleotide-binding protein G(o) subunit alphaAdd BLAST353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1
Lipidationi3S-palmitoyl cysteineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei179ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei351ADP-ribosylcysteine; by pertussis toxinBy similarity1

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P09471

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P09471

MaxQB - The MaxQuant DataBase

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MaxQBi
P09471

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P09471

PeptideAtlas

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PeptideAtlasi
P09471

PRoteomics IDEntifications database

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PRIDEi
P09471

ProteomicsDB human proteome resource

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ProteomicsDBi
52224
52225 [P09471-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P09471

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P09471

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P09471

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000087258 Expressed in 221 organ(s), highest expression level in temporal lobe

CleanEx database of gene expression profiles

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CleanExi
HS_GNAO1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P09471 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P09471 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB008387
HPA040878

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109037, 47 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P09471

Protein interaction database and analysis system

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IntActi
P09471, 8 interactors

Molecular INTeraction database

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MINTi
P09471

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262493

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P09471

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FUFX-ray3.12B18-354[»]
6G79electron microscopy3.78A4-57[»]
A276-354[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P09471

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P09471

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0082 Eukaryota
ENOG410XNVQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155883

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000038730

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG063184

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P09471

KEGG Orthology (KO)

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KOi
K04534

Identification of Orthologs from Complete Genome Data

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OMAi
VARMEDT

Database of Orthologous Groups

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OrthoDBi
754573at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P09471

TreeFam database of animal gene trees

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TreeFami
TF300673

Family and domain databases

Conserved Domains Database

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CDDi
cd00066 G-alpha, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001408 Gprotein_alpha_I
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR10218 PTHR10218, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00503 G-alpha, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00318 GPROTEINA
PR00441 GPROTEINAI

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00275 G_alpha, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform Alpha-1 (identifier: P09471-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV
60 70 80 90 100
KQMKIIHEDG FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER
110 120 130 140 150
KADAKMVCDV VSRMEDTEPF SAELLSAMMR LWGDSGIQEC FNRSREYQLN
160 170 180 190 200
DSAKYYLDSL DRIGAADYQP TEQDILRTRV KTTGIVETHF TFKNLHFRLF
210 220 230 240 250
DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET TNRMHESLML
260 270 280 290 300
FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA
310 320 330 340 350
AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG

CGLY
Length:354
Mass (Da):40,051
Last modified:January 23, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4F182926A8106E3E
GO
Isoform Alpha-2 (identifier: P09471-2) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     249-354: MLFDSICNNK...ANNLRGCGLY → KLFDSICNNK...AKNLRGCGLY

Show »
Length:354
Mass (Da):40,087
Checksum:i181B613AAF92F123
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTM2H3BTM2_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
195Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNR5H3BNR5_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTB6A0A087WTB6_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP38A0A1W2PP38_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQ24A0A1W2PQ24_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PS82A0A1W2PS82_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRJ7A0A1W2PRJ7_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP87A0A1W2PP87_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQK2A0A1W2PQK2_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRE1A0A1W2PRE1_HUMAN
Guanine nucleotide-binding protein ...
GNAO1
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti16S → G in AAA52584 (PubMed:3124840).Curated1
Sequence conflicti171T → L in AAA52584 (PubMed:3124840).Curated1
Sequence conflicti218D → E in AAA52584 (PubMed:3124840).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07541640G → R in EIEE17 and NEDIM. 2 PublicationsCorresponds to variant dbSNP:rs886041715EnsemblClinVar.1
Natural variantiVAR_07927847S → G in NEDIM. 1 Publication1
Natural variantiVAR_07927956I → T in NEDIM. 1 Publication1
Natural variantiVAR_070864174D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs587777055EnsemblClinVar.1
Natural variantiVAR_070865191 – 197Missing in EIEE17; the mutant protein accumulates in the cytoplasmic compartment; increased basal calcium-current density compared to wild-type. 1 Publication7
Natural variantiVAR_070866203G → R in EIEE17; the mutant protein localizes normally to the cell periphery. 2 PublicationsCorresponds to variant dbSNP:rs587777057EnsemblClinVar.1
Natural variantiVAR_077337209R → C in EIEE17 and NEDIM. 3 PublicationsCorresponds to variant dbSNP:rs886039494EnsemblClinVar.1
Natural variantiVAR_079280209R → G in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs886039494EnsemblClinVar.1
Natural variantiVAR_079281209R → H in NEDIM. 3 PublicationsCorresponds to variant dbSNP:rs797044878EnsemblClinVar.1
Natural variantiVAR_079282209R → L in NEDIM. 1 Publication1
Natural variantiVAR_077338227A → V in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs797045599EnsemblClinVar.1
Natural variantiVAR_079283246E → G in NEDIM. 1 PublicationCorresponds to variant dbSNP:rs1114167431Ensembl.1
Natural variantiVAR_077339246E → K in NEDIM. 2 PublicationsCorresponds to variant dbSNP:rs797044951EnsemblClinVar.1
Natural variantiVAR_070867279I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 2 PublicationsCorresponds to variant dbSNP:rs587777054EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_031250249 – 354MLFDS…GCGLY → KLFDSICNNKWFTDTSIILF LNKKDIFEEKIKKSPLTICF PEYTGPSAFTEAVAYIQAQY ESKNKSAHKEIYTHVTCATD TNNIQFVFDAVTDVIIAKNL RGCGLY in isoform Alpha-2. 2 PublicationsAdd BLAST106

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M60164
, M60156, M60157, M60158, M60159, M60160, M60163 Genomic DNA Translation: AAA52585.1
M60162
, M60156, M60157, M60158, M60159, M60160, M60161 Genomic DNA Translation: AAA52586.1
M19182, M19184 Genomic DNA Translation: AAA52584.1
AF493894 mRNA Translation: AAM12608.1
AF493895 mRNA Translation: AAM12609.1
Y18213 mRNA Translation: CAB46639.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10756.1 [P09471-1]
CCDS10757.1 [P09471-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A40436 RGHUO1
B40436 RGHUO2

NCBI Reference Sequences

More...
RefSeqi
NP_066268.1, NM_020988.2 [P09471-1]
NP_620073.2, NM_138736.2 [P09471-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.644524

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262493; ENSP00000262493; ENSG00000087258 [P09471-1]
ENST00000262494; ENSP00000262494; ENSG00000087258 [P09471-2]
ENST00000638705; ENSP00000491223; ENSG00000087258 [P09471-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2775

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2775

UCSC genome browser

More...
UCSCi
uc002eit.5 human [P09471-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M60164
, M60156, M60157, M60158, M60159, M60160, M60163 Genomic DNA Translation: AAA52585.1
M60162
, M60156, M60157, M60158, M60159, M60160, M60161 Genomic DNA Translation: AAA52586.1
M19182, M19184 Genomic DNA Translation: AAA52584.1
AF493894 mRNA Translation: AAM12608.1
AF493895 mRNA Translation: AAM12609.1
Y18213 mRNA Translation: CAB46639.1
CCDSiCCDS10756.1 [P09471-1]
CCDS10757.1 [P09471-2]
PIRiA40436 RGHUO1
B40436 RGHUO2
RefSeqiNP_066268.1, NM_020988.2 [P09471-1]
NP_620073.2, NM_138736.2 [P09471-2]
UniGeneiHs.644524

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FUFX-ray3.12B18-354[»]
6G79electron microscopy3.78A4-57[»]
A276-354[»]
ProteinModelPortaliP09471
SMRiP09471
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109037, 47 interactors
ELMiP09471
IntActiP09471, 8 interactors
MINTiP09471
STRINGi9606.ENSP00000262493

Chemistry databases

BindingDBiP09471
ChEMBLiCHEMBL4742

PTM databases

iPTMnetiP09471
PhosphoSitePlusiP09471
SwissPalmiP09471

Polymorphism and mutation databases

BioMutaiGNAO1
DMDMi232133

Proteomic databases

EPDiP09471
jPOSTiP09471
MaxQBiP09471
PaxDbiP09471
PeptideAtlasiP09471
PRIDEiP09471
ProteomicsDBi52224
52225 [P09471-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2775
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262493; ENSP00000262493; ENSG00000087258 [P09471-1]
ENST00000262494; ENSP00000262494; ENSG00000087258 [P09471-2]
ENST00000638705; ENSP00000491223; ENSG00000087258 [P09471-1]
GeneIDi2775
KEGGihsa:2775
UCSCiuc002eit.5 human [P09471-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2775
DisGeNETi2775
EuPathDBiHostDB:ENSG00000087258.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GNAO1
HGNCiHGNC:4389 GNAO1
HPAiCAB008387
HPA040878
MalaCardsiGNAO1
MIMi139311 gene
615473 phenotype
617493 phenotype
neXtProtiNX_P09471
OpenTargetsiENSG00000087258
Orphaneti1934 Early infantile epileptic encephalopathy
PharmGKBiPA28771

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0082 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00940000155883
HOGENOMiHOG000038730
HOVERGENiHBG063184
InParanoidiP09471
KOiK04534
OMAiVARMEDT
OrthoDBi754573at2759
PhylomeDBiP09471
TreeFamiTF300673

Enzyme and pathway databases

ReactomeiR-HSA-112043 PLC beta mediated events
R-HSA-202040 G-protein activation
R-HSA-4086398 Ca2+ pathway
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
SignaLinkiP09471
SIGNORiP09471

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GNAO1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GNAO1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2775

Protein Ontology

More...
PROi
PR:P09471

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000087258 Expressed in 221 organ(s), highest expression level in temporal lobe
CleanExiHS_GNAO1
ExpressionAtlasiP09471 baseline and differential
GenevisibleiP09471 HS

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR001408 Gprotein_alpha_I
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00441 GPROTEINAI
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNAO_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P09471
Secondary accession number(s): P29777, Q8TD72, Q9UMV4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 198 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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