Rap1 GTPase-GDP dissociation stimulator 1 (RAP1GDS1)
The protein contains 607 amino acids for an estimated molecular weight of 66317 Da.
Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein (PubMed:1549351, PubMed:11948427). Able to promote the Ca(2+) release from the endoplasmic reticulum via both inositol trisphosphate (Ins3P) and ryanodine sensitive receptors leading to a enhanced mitochondrial Ca(2+) uptake (PubMed:24349085). (updated: April 7, 2021)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
(right-click above to access to more options from the contextual menu)
| Variant | Description |
|---|---|
| dbSNP:rs17849535 | |
| dbSNP:rs34392334 |
Biological Process
Myosin filament assembly
Negative regulation of endoplasmic reticulum calcium ion concentration
Positive regulation of GTPase activity
Positive regulation of mitochondrial calcium ion concentration
Small GTPase mediated signal transduction
Vascular associated smooth muscle contraction
The reference OMIM entry for this protein is 179502
Rap1, gtpase-gdp dissociation stimulator 1; rap1gds1
Gtpase-gdp dissociation stimulator, rap1, 1
Gdp-dissociation stimulator 1; gds1
Smggds rap1gds1/nup98 fusion gene, included
DESCRIPTION
The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993).CLONING
By screening a human brain cDNA library with bovine Rap1gds1 cDNA, Kikuchi et al. (1992) cloned RAP1GDS1, which encodes a 558-amino acid protein with a calculated molecular mass of 61.1 kD. Human RAP1GDS1 shares 96% amino acid identity with its bovine homolog. The product of the RAP1GDS1 gene, usually referred to as smgGDS, has guanine nucleotide exchange factor (GEF) activity (Mizuno et al., 1991). RAP1GDS1 stimulates the GDP/GTP exchange reaction of a group of small G proteins by stimulating dissociation of GDP from the subsequent binding of GTP to each small G protein.MAPPING
Riess et al. (1993) found that the 3-prime end of the cDNA encoding the smgGDS protein shares 100% homology with the previously published EST sequence mapped to chromosome 4 by Durkin et al. (1992) and Polymeropoulos et al. (1992). Using a mapping panel of rodent/human somatic cell hybrids containing different parts of chromosome 4, Riess et al. (1993) refined the localization to chromosome 4q21-q25. They pointed out that this localization falls in a region of allele loss in primary hepatocellular carcinoma.CYTOGENETICS
Hussey et al. (1999) identified the breakpoint genes of the translocation t(4;11)(q21;p15) that occurred in a case of adult T-cell acute lymphocytic leukemia (T-ALL). By analysis of somatic cell hybrids, they showed that the chromosome 11 breakpoint occurred within the NUP98 gene (601021), which is rearranged in several acute myeloid leukemia translocations. Using 3-prime RACE, Hussey et al. (1999) identified the fusion partner of NUP98 as RAP1GDS1. This was the first report of the involvement of RAP1GDS1 in any malignancy. In the fusion transcript, which the authors referred to as NRG, the 5-prime end of the NUP98 gene was joined in-frame to the coding region of the RAP1GDS1 gene. This joined the FG repeat-rich region of NUP98 to RAP1GDS1, which largely consists of tandem armadillo repeats. Hussey et al. (1999) found that the NRG fusion maintained the reading frame of RAP1GDS1. The RAP1GDS1 sequence in NRG started at nucleotide 5 of the coding sequence. The methionine and the first G of the codon for aspartic acid were lost. However, the first aspartic acid was retained in the fusion protein, because the last base of NUP98 exon B is a G. Hussey et al. (1999) showed that this translocation is recurrent in T-ALL. ... More on the omim web site
April 10, 2021: Protein entry updated
Automatic update: Entry updated from uniprot information.
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 179502 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).