GNAO1

Last updated
GNAO1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GNAO1 , EIEE17, G-ALPHA-o, GNAO, G protein subunit alpha o1, HLA-DQB1, NEDIM, DEE17, HG1G
External IDs OMIM: 139311 MGI: 95775 HomoloGene: 39203 GeneCards: GNAO1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 8: 94.54 – 94.7 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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

Interactions

GNAO1 has been shown to interact with:

Related Research Articles

G12/G13 alpha subunits are alpha subunits of heterotrimeric G proteins that link cell surface G protein-coupled receptors primarily to guanine nucleotide exchange factors for the Rho small GTPases to regulate the actin cytoskeleton. Together, these two proteins comprise one of the four classes of G protein alpha subunits. G protein alpha subunits bind to guanine nucleotides and function in a regulatory cycle, and are active when bound to GTP but inactive and associated with the G beta-gamma complex when bound to GDP. G12/G13 are not targets of pertussis toxin or cholera toxin, as are other classes of G protein alpha subunits.

<span class="mw-page-title-main">GNAQ</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11, it functions as a Gq alpha subunit.

<span class="mw-page-title-main">GNAI1</span> Protein-coding gene in humans

Guanine nucleotide-binding protein G(i), alpha-1 subunit is a protein that in humans is encoded by the GNAI1 gene.

<span class="mw-page-title-main">Regulator of G protein signaling</span>

Regulators of G protein signaling (RGS) are protein structural domains or the proteins that contain these domains, that function to activate the GTPase activity of heterotrimeric G-protein α-subunits.

<span class="mw-page-title-main">GIPC1</span> Protein-coding gene in the species Homo sapiens

GIPC PDZ domain containing family, member 1 (GIPC1) is a protein that in humans is encoded by the GIPC1 gene. GIPC was originally identified as it binds specifically to the C terminus of RGS-GAIP, a protein involved in the regulation of G protein signaling. GIPC is an acronym for "GAIP Interacting Protein C-terminus". RGS proteins are "Regulators of G protein Signaling" and RGS-GAIP is a "GTPase Activator protein for Gαi/Gαq", which are two major subtypes of Gα proteins. The human GIPC1 molecule is 333 amino acids or about 36 kDa in molecular size and consists of a central PDZ domain, a compact protein module which mediates specific protein-protein interactions. The RGS-GAIP protein interacts with this domain and many other proteins interact here or at other parts of the GIPC1 molecule. As a result, GIPC1 was independently discovered by several other groups and has a variety of alternate names, including synectin, C19orf3, RGS19IP1 and others. The GIPC1 gene family in mammals consisting of three members, so the first discovered, originally named GIPC, is now generally called GIPC1, with the other two being named GIPC2 and GIPC3. The three human proteins are about 60% identical in protein sequence. GIPC1 has been shown to interact with a variety of other receptor and cytoskeletal proteins including the GLUT1 receptor, ACTN1, KIF1B, MYO6, PLEKHG5, SDC4/syndecan-4, SEMA4C/semaphorin-4 and HTLV-I Tax. The general function of GIPC family proteins therefore appears to be mediating specific interactions between proteins involved in G protein signaling and membrane translocation.

<span class="mw-page-title-main">GNAZ</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the GNAZ gene.

<span class="mw-page-title-main">GNB2</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 is a protein that in humans is encoded by the GNB2 gene.

<span class="mw-page-title-main">GNG2</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 is a protein that in humans is encoded by the GNG2 gene.

<span class="mw-page-title-main">RGS19</span> Protein-coding gene in the species Homo sapiens

Regulator of G-protein signaling 19 is a protein that in humans is encoded by the RGS19 gene.

<span class="mw-page-title-main">GNB5</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein subunit beta-5 is a protein that in humans is encoded by the GNB5 gene. Alternatively spliced transcript variants encoding different isoforms exist.

<span class="mw-page-title-main">GNAT2</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.

<span class="mw-page-title-main">GNAT1</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(t) subunit alpha-1 is a protein that in humans is encoded by the GNAT1 gene.

<span class="mw-page-title-main">RGS1</span> Protein-coding gene in the species Homo sapiens

Regulator of G-protein signaling 1 is a protein that in humans is encoded by the RGS1 gene.

<span class="mw-page-title-main">RGS14</span> Protein-coding gene in the species Homo sapiens

Regulator of G-protein signaling 14 (RGS14) is a protein that in humans is encoded by the RGS14 gene.

<span class="mw-page-title-main">GNB4</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein subunit beta-4 is a protein that in humans is encoded by the GNB4 gene.

<span class="mw-page-title-main">GNA13</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein subunit alpha-13 is a protein that in humans is encoded by the GNA13 gene.

<span class="mw-page-title-main">GNAI3</span> Protein-coding gene in humans

Guanine nucleotide-binding protein G(k) subunit alpha is a protein that in humans is encoded by the GNAI3 gene.

<span class="mw-page-title-main">GNA11</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the GNA11 gene. Together with GNAQ, it functions as a Gq alpha subunit.

<span class="mw-page-title-main">GNA12</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein subunit alpha-12 is a protein that in humans is encoded by the GNA12 gene.

<span class="mw-page-title-main">GoLoco motif</span> Protein structural motif

GoLoco motif is a protein structural motif. In heterotrimeric G-protein signalling, cell surface receptors (GPCRs) are coupled to membrane-associated heterotrimers comprising a GTP-hydrolyzing subunit G-alpha and a G-beta/G-gamma dimer. The inactive form contains the alpha subunit bound to GDP and complexes with the beta and gamma subunit. When the ligand is associated to the receptor, GDP is displaced from G-alpha and GTP is bound. The GTP/G-alpha complex dissociates from the trimer and associates to an effector until the intrinsic GTPase activity of G-alpha returns the protein to GDP bound form. Reassociation of GDP-bound G-alpha with G-beta/G-gamma dimer terminates the signal. Several mechanisms regulate the signal output at different stage of the G-protein cascade. Two classes of intracellular proteins act as inhibitors of G protein activation: GTPase activating proteins (GAPs), which enhance GTP hydrolysis, and guanine dissociation inhibitors (GDIs), which inhibit GDP dissociation. The GoLoco or G-protein regulatory (GPR) motif found in various G-protein regulators. acts as a GDI on G-alpha(i).

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000087258 - Ensembl, May 2017
  2. 1 2 3 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. Bibcode:1996PNAS...9315203D. 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