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P09471

- GNAO_HUMAN

UniProt

P09471 - GNAO_HUMAN

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
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    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 – 471MagnesiumBy similarity
    Metal bindingi182 – 1821MagnesiumBy similarity
    Binding sitei326 – 3261GTP; via amide nitrogenBy similarity

    Regions

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

    GO - Molecular functioni

    1. corticotropin-releasing hormone receptor 1 binding Source: RefGenome
    2. G-protein beta/gamma-subunit complex binding Source: RefGenome
    3. G-protein coupled serotonin receptor binding Source: RefGenome
    4. GTPase activity Source: RefGenome
    5. GTP binding Source: UniProtKB-KW
    6. metal ion binding Source: UniProtKB-KW
    7. mu-type opioid receptor binding Source: RefGenome
    8. 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

    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. heterotrimeric G-protein complex Source: RefGenome
    2. neuron projection Source: Ensembl
    3. plasma membrane Source: Reactome

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 11RemovedBy similarity
    Chaini2 – 354353Guanine nucleotide-binding protein G(o) subunit alphaPRO_0000203702Add
    BLAST

    Amino acid modifications

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

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliP09471.
    SMRiP09471. Positions 35-345.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti16 – 161S → G in AAA52584. (PubMed:3124840)Curated
    Sequence conflicti171 – 1711T → L in AAA52584. (PubMed:3124840)Curated
    Sequence conflicti218 – 2181D → E in AAA52584. (PubMed:3124840)Curated

    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. 2 PublicationsVSP_031250Add
    BLAST

    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

    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: October 1, 2014
    This is version 154 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