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P09471

- GNAO_HUMAN

UniProt

P09471 - GNAO_HUMAN

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Protein
Guanine nucleotide-binding protein G(o) subunit alpha
Gene
GNAO1
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi47 – 471Magnesium By similarity
Metal bindingi182 – 1821Magnesium By similarity
Binding sitei326 – 3261GTP; via amide nitrogen By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi40 – 478GTP By similarity
Nucleotide bindingi176 – 1827GTP By similarity
Nucleotide bindingi201 – 2055GTP By similarity
Nucleotide bindingi270 – 2734GTP By similarity

GO - Molecular functioni

  1. G-protein beta/gamma-subunit complex binding Source: RefGenome
  2. G-protein coupled serotonin receptor binding Source: RefGenome
  3. GTP binding Source: UniProtKB-KW
  4. GTPase activity Source: RefGenome
  5. metal ion binding Source: UniProtKB-KW
  6. signal transducer activity Source: RefGenome

GO - Biological processi

  1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: RefGenome
  2. aging Source: Ensembl
  3. dopamine receptor signaling pathway Source: RefGenome
  4. forebrain development Source: Ensembl
  5. locomotory behavior Source: Ensembl
  6. muscle contraction Source: ProtInc
  7. negative regulation of calcium ion transport Source: Ensembl
  8. neuron projection development Source: Ensembl
  9. positive regulation of GTPase activity Source: Ensembl
  10. regulation of heart contraction Source: Ensembl
  11. response to cytokine Source: Ensembl
  12. response to drug Source: Ensembl
  13. response to hydrogen peroxide Source: Ensembl
  14. response to morphine Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_172761. Ca2+ pathway.
SignaLinkiP09471.

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:4389. GNAO1.

Subcellular locationi

Cell membrane By similarity

GO - Cellular componenti

  1. extrinsic component of cytoplasmic side of plasma membrane Source: RefGenome
  2. heterotrimeric G-protein complex Source: RefGenome
  3. neuron projection Source: Ensembl
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization; has impaired current inhibition after norepinephrine application compared to wild-type. 1 Publication
VAR_070864
Natural varianti191 – 1977Missing in EIEE17; the mutant protein accumulates in the cytoplasmic compartment; increased calcium-current density compared to wild-type before norepinephrine application; mild reduction in calcium current compared to wild-type after application of norepinephrine.
VAR_070865
Natural varianti203 – 2031G → R in EIEE17; the mutant protein localizes normally to the cell periphery; has impaired current inhibition after norepinephrine application compared to wildt-ype. 1 Publication
VAR_070866
Natural varianti279 – 2791I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 1 Publication
VAR_070867

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi615473. phenotype.
Orphaneti1934. Early infantile epileptic encephalopathy.
PharmGKBiPA28771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 354353Guanine nucleotide-binding protein G(o) subunit alpha
PRO_0000203702Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine By similarity
Lipidationi3 – 31S-palmitoyl cysteine By similarity
Modified residuei179 – 1791ADP-ribosylarginine; by cholera toxin By similarity
Modified residuei351 – 3511ADP-ribosylcysteine; by pertussis toxin By similarity

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Myristate, Palmitate

Proteomic databases

MaxQBiP09471.
PaxDbiP09471.
PeptideAtlasiP09471.
PRIDEiP09471.

PTM databases

PhosphoSiteiP09471.

Expressioni

Gene expression databases

ArrayExpressiP09471.
BgeeiP09471.
CleanExiHS_GNAO1.
GenevestigatoriP09471.

Organism-specific databases

HPAiCAB008387.

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.

Protein-protein interaction databases

BioGridi109037. 20 interactions.
IntActiP09471. 4 interactions.
MINTiMINT-1203064.
STRINGi9606.ENSP00000262493.

Structurei

3D structure databases

ProteinModelPortaliP09471.
SMRiP09471. Positions 35-345.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG322962.
HOGENOMiHOG000038730.
HOVERGENiHBG063184.
KOiK04534.
OMAiPANPLHE.
PhylomeDBiP09471.
TreeFamiTF300673.

Family and domain databases

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. Align

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

MGCTLSAEER AALERSKAIE KNLKEDGISA AKDVKLLLLG AGESGKSTIV    50
KQMKIIHEDG FSGEDVKQYK PVVYSNTIQS LAAIVRAMDT LGIEYGDKER 100
KADAKMVCDV VSRMEDTEPF SAELLSAMMR LWGDSGIQEC FNRSREYQLN 150
DSAKYYLDSL DRIGAADYQP TEQDILRTRV KTTGIVETHF TFKNLHFRLF 200
DVGGQRSERK KWIHCFEDVT AIIFCVALSG YDQVLHEDET TNRMHESLML 250
FDSICNNKFF IDTSIILFLN KKDLFGEKIK KSPLTICFPE YTGPNTYEDA 300
AAYIQAQFES KNRSPNKEIY CHMTCATDTN NIQVVFDAVT DIIIANNLRG 350
CGLY 354
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741D → G in EIEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization; has impaired current inhibition after norepinephrine application compared to wild-type. 1 Publication
VAR_070864
Natural varianti191 – 1977Missing in EIEE17; the mutant protein accumulates in the cytoplasmic compartment; increased calcium-current density compared to wild-type before norepinephrine application; mild reduction in calcium current compared to wild-type after application of norepinephrine.
VAR_070865
Natural varianti203 – 2031G → R in EIEE17; the mutant protein localizes normally to the cell periphery; has impaired current inhibition after norepinephrine application compared to wildt-ype. 1 Publication
VAR_070866
Natural varianti279 – 2791I → N in EIEE17; the mutant protein has some abnormal cytoplasmic localization. 1 Publication
VAR_070867

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei249 – 354106MLFDS…GCGLY → KLFDSICNNKWFTDTSIILF LNKKDIFEEKIKKSPLTICF PEYTGPSAFTEAVAYIQAQY ESKNKSAHKEIYTHVTCATD TNNIQFVFDAVTDVIIAKNL RGCGLY in isoform Alpha-2.
VSP_031250Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti16 – 161S → G in AAA52584. 1 Publication
Sequence conflicti171 – 1711T → L in AAA52584. 1 Publication
Sequence conflicti218 – 2181D → E in AAA52584. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [P09471-2]
uc002eiu.4. human. [P09471-1]

Polymorphism databases

DMDMi232133.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10756.1. [P09471-1 ]
CCDS10757.1. [P09471-2 ]
PIRi A40436. RGHUO1.
B40436. RGHUO2.
RefSeqi NP_066268.1. NM_020988.2. [P09471-1 ]
NP_620073.2. NM_138736.2. [P09471-2 ]
UniGenei Hs.644524.

3D structure databases

ProteinModelPortali P09471.
SMRi P09471. Positions 35-345.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109037. 20 interactions.
IntActi P09471. 4 interactions.
MINTi MINT-1203064.
STRINGi 9606.ENSP00000262493.

Chemistry

BindingDBi P09471.
ChEMBLi CHEMBL4742.

PTM databases

PhosphoSitei P09471.

Polymorphism databases

DMDMi 232133.

Proteomic databases

MaxQBi P09471.
PaxDbi P09471.
PeptideAtlasi P09471.
PRIDEi P09471.

Protocols and materials databases

DNASUi 2775.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262493 ; ENSP00000262493 ; ENSG00000087258 . [P09471-1 ]
ENST00000262494 ; ENSP00000262494 ; ENSG00000087258 . [P09471-2 ]
GeneIDi 2775.
KEGGi hsa:2775.
UCSCi uc002eit.4. human. [P09471-2 ]
uc002eiu.4. human. [P09471-1 ]

Organism-specific databases

CTDi 2775.
GeneCardsi GC16P056277.
HGNCi HGNC:4389. GNAO1.
HPAi CAB008387.
MIMi 139311. gene.
615473. phenotype.
neXtProti NX_P09471.
Orphaneti 1934. Early infantile epileptic encephalopathy.
PharmGKBi PA28771.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322962.
HOGENOMi HOG000038730.
HOVERGENi HBG063184.
KOi K04534.
OMAi PANPLHE.
PhylomeDBi P09471.
TreeFami TF300673.

Enzyme and pathway databases

Reactomei REACT_15426. PLC beta mediated events.
REACT_15457. G-protein activation.
REACT_172761. Ca2+ pathway.
SignaLinki P09471.

Miscellaneous databases

ChiTaRSi GNAO1. human.
GeneWikii GNAO1.
GenomeRNAii 2775.
NextBioi 10916.
PROi P09471.
SOURCEi Search...

Gene expression databases

ArrayExpressi P09471.
Bgeei P09471.
CleanExi HS_GNAO1.
Genevestigatori P09471.

Family and domain databases

Gene3Di 1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR001408. Gprotein_alpha_I.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10218. PTHR10218. 1 hit.
Pfami PF00503. G-alpha. 1 hit.
[Graphical view ]
PRINTSi PR00318. GPROTEINA.
PR00441. GPROTEINAI.
SMARTi SM00275. G_alpha. 1 hit.
[Graphical view ]
SUPFAMi SSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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."
    Tsukamoto T., Toyama R., Itoh H., Kozasa T., Matsuoka M., Kaziro Y.
    Proc. Natl. Acad. Sci. U.S.A. 88:2974-2978(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
  2. "Molecular cloning and DNA sequence analysis of the human guanine nucleotide-binding protein Go alpha."
    Lavu S., Clark J., Swarup R., Matshushima K., Paturu K., Moss J., Kung H.-F.
    Biochem. Biophys. Res. Commun. 150:811-815(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  3. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Puhl H.L. III, Ikeda S.R., Aronstam R.S.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS ALPHA-1 AND ALPHA-2).
    Tissue: Brain.
  4. "Identification and expression of GO1 and 2 alpha-subunit transcripts in human myometrium in relation to pregnancy."
    Duc-Goiran P., Bourgeois C., Mignot T.M., Robert B., Tanguy G., Ferre F.
    Biol. Reprod. 60:1528-1535(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 246-354 (ISOFORM ALPHA-2).
    Tissue: Myometrium.
  5. Cited for: VARIANTS EIEE17 GLY-174; 191-THR--PHE-197 DEL; ARG-203 AND ASN-279, CHARACTERIZATION OF VARIANTS EIEE17 GLY-174; 191-THR--PHE-197 DEL; ARG-203 AND ASN-279.

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: September 3, 2014
This is version 153 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

External Data

Dasty 3

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