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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-Experimental evidence at protein leveli

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
Metal bindingi47MagnesiumBy similarity1
Metal bindingi182MagnesiumBy similarity1
Binding sitei326GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi40 – 47GTPBy similarity8
Nucleotide bindingi176 – 182GTPBy similarity7
Nucleotide bindingi201 – 205GTPBy similarity5
Nucleotide bindingi270 – 273GTPBy similarity4

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000087258-MONOMER.
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.

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(o) subunit alpha
Gene namesi
Name:GNAO1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4389. GNAO1.

Subcellular locationi

  • Cell membrane By similarity
  • Membrane Curated; Lipid-anchor Curated

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 17 (EIEE17)2 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
Natural variantiVAR_07541640G → R in EIEE17. 1 Publication1
Natural variantiVAR_070864174D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant rs587777055dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs587777057dbSNPEnsembl.1
Natural variantiVAR_070867279I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant rs587777054dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2775.
MalaCardsiGNAO1.
MIMi615473. phenotype.
OpenTargetsiENSG00000087258.
Orphaneti1934. Early infantile epileptic encephalopathy.
PharmGKBiPA28771.

Chemistry databases

ChEMBLiCHEMBL4742.

Polymorphism and mutation databases

BioMutaiGNAO1.
DMDMi232133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002037022 – 354Guanine nucleotide-binding protein G(o) subunit alphaAdd BLAST353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Lipidationi3S-palmitoyl cysteineBy similarity1
Modified residuei179ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei351ADP-ribosylcysteine; by pertussis toxinBy similarity1

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Palmitate

Proteomic databases

EPDiP09471.
MaxQBiP09471.
PaxDbiP09471.
PeptideAtlasiP09471.
PRIDEiP09471.

PTM databases

iPTMnetiP09471.
PhosphoSitePlusiP09471.
SwissPalmiP09471.

Expressioni

Gene expression databases

BgeeiENSG00000087258.
CleanExiHS_GNAO1.
ExpressionAtlasiP09471. baseline and differential.
GenevisibleiP09471. HS.

Organism-specific databases

HPAiCAB008387.
HPA040878.

Interactioni

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

BioGridi109037. 40 interactors.
IntActiP09471. 6 interactors.
MINTiMINT-1203064.
STRINGi9606.ENSP00000262493.

Chemistry databases

BindingDBiP09471.

Structurei

3D structure databases

ProteinModelPortaliP09471.
SMRiP09471.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-alpha family. G(i/o/t/z) subfamily.Curated

Phylogenomic databases

eggNOGiKOG0082. Eukaryota.
ENOG410XNVQ. LUCA.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP09471.
KOiK04534.
OMAiDSKMVCD.
OrthoDBiEOG091G0VUT.
PhylomeDBiP09471.
TreeFamiTF300673.

Family and domain databases

CDDicd00066. G-alpha. 1 hit.
Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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. 1 Publication1
Natural variantiVAR_070864174D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant rs587777055dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs587777057dbSNPEnsembl.1
Natural variantiVAR_070867279I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 1 PublicationCorresponds to variant rs587777054dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031250249 – 354MLFDS…GCGLY → KLFDSICNNKWFTDTSIILF LNKKDIFEEKIKKSPLTICF PEYTGPSAFTEAVAYIQAQY ESKNKSAHKEIYTHVTCATD TNNIQFVFDAVTDVIIAKNL RGCGLY in isoform Alpha-2. 2 PublicationsAdd BLAST106

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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

ProteinModelPortaliP09471.
SMRiP09471.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109037. 40 interactors.
IntActiP09471. 6 interactors.
MINTiMINT-1203064.
STRINGi9606.ENSP00000262493.

Chemistry databases

BindingDBiP09471.
ChEMBLiCHEMBL4742.

PTM databases

iPTMnetiP09471.
PhosphoSitePlusiP09471.
SwissPalmiP09471.

Polymorphism and mutation databases

BioMutaiGNAO1.
DMDMi232133.

Proteomic databases

EPDiP09471.
MaxQBiP09471.
PaxDbiP09471.
PeptideAtlasiP09471.
PRIDEiP09471.

Protocols and materials databases

DNASUi2775.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2775.
DisGeNETi2775.
GeneCardsiGNAO1.
HGNCiHGNC:4389. GNAO1.
HPAiCAB008387.
HPA040878.
MalaCardsiGNAO1.
MIMi139311. gene.
615473. phenotype.
neXtProtiNX_P09471.
OpenTargetsiENSG00000087258.
Orphaneti1934. Early infantile epileptic encephalopathy.
PharmGKBiPA28771.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0082. Eukaryota.
ENOG410XNVQ. LUCA.
GeneTreeiENSGT00760000118851.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
InParanoidiP09471.
KOiK04534.
OMAiDSKMVCD.
OrthoDBiEOG091G0VUT.
PhylomeDBiP09471.
TreeFamiTF300673.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000087258-MONOMER.
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

ChiTaRSiGNAO1. human.
GeneWikiiGNAO1.
GenomeRNAii2775.
PROiP09471.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087258.
CleanExiHS_GNAO1.
ExpressionAtlasiP09471. baseline and differential.
GenevisibleiP09471. HS.

Family and domain databases

CDDicd00066. G-alpha. 1 hit.
Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiGNAO_HUMAN
AccessioniPrimary (citable) accession number: P09471
Secondary accession number(s): P29777, Q8TD72, Q9UMV4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 177 of the entry and version 4 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.