GNAO1

Guanine nucleotide-binding protein G(o) subunit alpha is a protein that in humans is encoded by the GNAO1 gene.[5][6][7]

GNAO1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGNAO1, EIEE17, G-ALPHA-o, GNAO, G protein subunit alpha o1, HLA-DQB1, NEDIM
External IDsOMIM: 139311 MGI: 95775 HomoloGene: 39203 GeneCards: GNAO1
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q13Start56,191,489 bp[1]
End56,357,444 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2775

14681

Ensembl

ENSG00000087258

ENSMUSG00000031748

UniProt

P09471
Q8N6I9

P18872

RefSeq (mRNA)

NM_020988
NM_138736

NM_001113384
NM_010308

RefSeq (protein)

NP_066268
NP_620073
NP_066268.1
NP_620073.2

NP_001106855
NP_034438

Location (UCSC)Chr 16: 56.19 – 56.36 MbChr 8: 93.81 – 93.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mutations in this gene have been shown to cause epileptic encephalopathy.[8]

Interactions

GNAO1 has been shown to interact with:

References

  1. GRCh38: Ensembl release 89: ENSG00000087258 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031748 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Murtagh JJ Jr; Eddy R; Shows TB; Moss J; Vaughan M (Mar 1991). "Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16". Mol Cell Biol. 11 (2): 1146–55. doi:10.1128/MCB.11.2.1146. PMC 359797. PMID 1899283.
  6. Kinoshita M, Nukada T, Asano T, Mori Y, Akaike A, Satoh M, Kaneko S (Jul 2001). "Binding of G alpha(o) N terminus is responsible for the voltage-resistant inhibition of alpha(1A) (P/Q-type, Ca(v)2.1) Ca(2+) channels". J Biol Chem. 276 (31): 28731–8. doi:10.1074/jbc.M104806200. PMID 11395521.
  7. "Entrez Gene: GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O".
  8. Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H (September 2013). "De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy". Am. J. Hum. Genet. 93 (3): 496–505. doi:10.1016/j.ajhg.2013.07.014. PMC 3769919. PMID 23993195.
  9. Chen C, Zheng B, Han J, Lin SC (1997). "Characterization of a novel mammalian RGS protein that binds to Galpha proteins and inhibits pheromone signaling in yeast". J. Biol. Chem. 272 (13): 8679–85. doi:10.1074/jbc.272.13.8679. PMID 9079700.
  10. Zhou J, Moroi K, Nishiyama M, Usui H, Seki N, Ishida J, Fukamizu A, Kimura S (2001). "Characterization of RGS5 in regulation of G protein-coupled receptor signaling". Life Sci. 68 (13): 1457–69. doi:10.1016/S0024-3205(01)00939-0. PMID 11253162.
  11. De Vries L, Elenko E, Hubler L, Jones TL, Farquhar MG (1996). "GAIP is membrane-anchored by palmitoylation and interacts with the activated (GTP-bound) form of G alpha i subunits". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15203–8. doi:10.1073/pnas.93.26.15203. PMC 26381. PMID 8986788.
  12. Woulfe DS, Stadel JM (1999). "Structural basis for the selectivity of the RGS protein, GAIP, for Galphai family members. Identification of a single amino acid determinant for selective interaction of Galphai subunits with GAIP". J. Biol. Chem. 274 (25): 17718–24. doi:10.1074/jbc.274.25.17718. PMID 10364213.
  13. Pagano M, Jordan JD, Neves SR, Nguyen T, Iyengar R (2008). "Galphao/i-stimulated proteosomal degradation of RGS20: a mechanism for temporal integration of Gs and Gi pathways". Cell. Signal. 20 (6): 1190–7. doi:10.1016/j.cellsig.2008.02.008. PMC 3107604. PMID 18407463.
  14. Tall GG, Krumins AM, Gilman AG (2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem. 278 (10): 8356–62. doi:10.1074/jbc.M211862200. PMID 12509430.

Further reading


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