Entry - *600874 - GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5 - OMIM
 
* 600874

GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5


Alternative titles; symbols

G PROTEIN GAMMA-5 SUBUNIT


HGNC Approved Gene Symbol: GNG5

Cytogenetic location: 1p22.3     Genomic coordinates (GRCh38): 1:84,498,325-84,506,581 (from NCBI)


TEXT

Description

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987; summary by Ahmad et al., 1995).


Cloning and Expression

Fisher and Aronson (1992) characterized the cDNA and genomic sequence of the gamma-5 subunit (GNG5). They found, furthermore, a cDNA clone from human placenta with an altered open reading frame and 3-prime untranslated region. At base position 957 of the cDNA for native chitobiase (CTBS; 600873), which would be the 3-prime end of exon 6 of the chitobiase gene, there was fused in-frame a sequence that represented exons 2 and 3 from the gamma-5 gene. Exons 2 and 3, respectively, code for the carboxyl-end of the gamma-5 protein and the 3-prime untranslated portion of its mRNA. This hybrid message was also identified in human liver and retina by RT-PCR analysis. It was not known whether a hybrid protein was produced in vivo.


Mapping

Ahmad et al. (1995) demonstrated that both the CTBS gene and the GNG5 gene map to 1p by PCR analysis of somatic cell hybrids; by fluorescence in situ hybridization using a YAC clone that contains both chitobiase and gamma-5 genes, they refined the localization to 1p22.


REFERENCES

  1. Ahmad, W., Li, S., Chen, H., Tuck-Muller, C. M., Pittler, S. J., Aronson, N. N., Jr. Lysosomal chitobiase (CTB) and the G-protein gamma-5 subunit (GNG5) genes co-localize to human chromosome 1p22. Cytogenet. Cell Genet. 71: 44-46, 1995. [PubMed: 7606925, related citations] [Full Text]

  2. Fisher, K. J., Aronson, N. N. Characterization of the cDNA and genomic sequence of a G protein gamma subunit (gamma-5). Molec. Cell Biol. 12: 1585-1591, 1992. [PubMed: 1549114, related citations] [Full Text]

  3. Gilman, A. G. G proteins: transducers of receptor-generated signals. Annu. Rev. Biochem. 56: 615-649, 1987. [PubMed: 3113327, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 10/16/1995
carol : 09/14/2016
terry : 11/24/2010
terry : 11/24/2010
carol : 11/9/2010
carol : 1/5/2000
dkim : 12/16/1998
carol : 7/2/1998
terry : 6/4/1998
mark : 12/13/1995
mark : 10/16/1995

* 600874

GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5


Alternative titles; symbols

G PROTEIN GAMMA-5 SUBUNIT


HGNC Approved Gene Symbol: GNG5

Cytogenetic location: 1p22.3     Genomic coordinates (GRCh38): 1:84,498,325-84,506,581 (from NCBI)


TEXT

Description

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987; summary by Ahmad et al., 1995).


Cloning and Expression

Fisher and Aronson (1992) characterized the cDNA and genomic sequence of the gamma-5 subunit (GNG5). They found, furthermore, a cDNA clone from human placenta with an altered open reading frame and 3-prime untranslated region. At base position 957 of the cDNA for native chitobiase (CTBS; 600873), which would be the 3-prime end of exon 6 of the chitobiase gene, there was fused in-frame a sequence that represented exons 2 and 3 from the gamma-5 gene. Exons 2 and 3, respectively, code for the carboxyl-end of the gamma-5 protein and the 3-prime untranslated portion of its mRNA. This hybrid message was also identified in human liver and retina by RT-PCR analysis. It was not known whether a hybrid protein was produced in vivo.


Mapping

Ahmad et al. (1995) demonstrated that both the CTBS gene and the GNG5 gene map to 1p by PCR analysis of somatic cell hybrids; by fluorescence in situ hybridization using a YAC clone that contains both chitobiase and gamma-5 genes, they refined the localization to 1p22.


REFERENCES

  1. Ahmad, W., Li, S., Chen, H., Tuck-Muller, C. M., Pittler, S. J., Aronson, N. N., Jr. Lysosomal chitobiase (CTB) and the G-protein gamma-5 subunit (GNG5) genes co-localize to human chromosome 1p22. Cytogenet. Cell Genet. 71: 44-46, 1995. [PubMed: 7606925] [Full Text: https://doi.org/10.1159/000134059]

  2. Fisher, K. J., Aronson, N. N. Characterization of the cDNA and genomic sequence of a G protein gamma subunit (gamma-5). Molec. Cell Biol. 12: 1585-1591, 1992. [PubMed: 1549114] [Full Text: https://doi.org/10.1128/mcb.12.4.1585-1591.1992]

  3. Gilman, A. G. G proteins: transducers of receptor-generated signals. Annu. Rev. Biochem. 56: 615-649, 1987. [PubMed: 3113327] [Full Text: https://doi.org/10.1146/annurev.bi.56.070187.003151]


Creation Date:
Victor A. McKusick : 10/16/1995

Edit History:
carol : 09/14/2016
terry : 11/24/2010
terry : 11/24/2010
carol : 11/9/2010
carol : 1/5/2000
dkim : 12/16/1998
carol : 7/2/1998
terry : 6/4/1998
mark : 12/13/1995
mark : 10/16/1995