Golgi SNAP receptor complex member 2 (GOSR2)
The protein contains 212 amino acids for an estimated molecular weight of 24775 Da.
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network. (updated: Aug. 30, 2002)
Protein identification was indicated in the following studies:
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
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.
This protein is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs197922 | |
| EPM6 |
Biological Process
COPII vesicle coating
Endoplasmic reticulum to Golgi vesicle-mediated transport
Golgi to vacuole transport
Intra-Golgi vesicle-mediated transport
IRE1-mediated unfolded protein response
Protein targeting to vacuole
Retrograde transport, endosome to Golgi
Vesicle fusion with Golgi apparatus
The reference OMIM entry for this protein is 604027
Golgi snap receptor complex member 2; gosr2
Golgi snare, 27-kd; gs27
Membrin
DESCRIPTION
The GOSR2 gene encodes a member of the soluble NSF attachment protein receptor (SNARE) family of vesicle docking proteins (Hay et al., 1997).CLONING
Hay et al. (1997) isolated rat Gosr2, which they called membrin, from a rat liver protein complex. The authors called the 25-kD protein 'membrin' to show its membership in a large complex of related proteins and to emphasize its probable importance to the trafficking of intracellular membranes. Lowe et al. (1997) identified cDNAs encoding human, mouse, and rat membrin, which they named GS27 (Golgi SNARE, 27-kD). Immunofluorescence of mammalian cells revealed that endogenous GS27 was associated with the Golgi apparatus and its surrounding vesicular structures. Using an in vitro transport assay, the authors demonstrated that GS27 participated in protein movement from the medial- to trans-Golgi and the trans-Golgi network, but unlike GS28 (GOSR1; 604026), GS27 had no effect on transport from the ER to the cis/medial-Golgi. They concluded that protein movement through the Golgi apparatus depends on SNARE-mediated vesicular transport.MAPPING
By analysis of radiation hybrids and by fluorescence in situ hybridization, Bui et al. (1999) mapped the GOSR2 gene to chromosome 17q21.GENE FUNCTION
In eukaryotic cells, the Golgi apparatus receives newly synthesized proteins from the endoplasmic reticulum (ER) and delivers them, after covalent modification, to their destination in the cell. These proteins move from the inside (cis) face of the Golgi to the plasma-membrane (trans) side, through a stack of cisternae, towards the trans-Golgi network (TGN). The specificity of membrane transport reactions is thought to be determined by correct pairing of vesicle-associated SNAREs (v-SNAREs) with those on the target membrane (t-SNAREs) to form a complex. This complex then recruits soluble NSF attachment proteins (SNAPs) and N-ethylmaleimide-sensitive factor (NSF; 601633) to form a 20S SNARE complex. Hay et al. (1997) isolated a rat liver protein complex representing an intermediate in ER-to-Golgi transfer reactions. The complex contained the proposed cis-Golgi vesicle receptor syntaxin-5 (603189), a 28-kD Golgi-associated SNARE (GOSR1; 604026), rat homologs of the yeast Bet1 (605456) and Sly1 proteins, and 2 novel proteins, sec22b (604029) and a 25-kD membrin protein. Like GOSR1, syntaxin-5, sec22b, and rat bet1, membrin is a C terminal-anchored, cytoplasmically oriented integral membrane protein. By immunofluorescence of mammalian cells expressing epitope-tagged membrin, Hay et al. (1997) found that the expressed protein accumulated primarily at the ER in half the cells, and primarily in the Golgi in the remaining cells. Other members of the complex localized to Golgi membranes, so that the complex appeared to recapitulate vesicle docking interactions of proteins originating from distinct compartments.MOLECULAR GENETICS
In 5 unrelated patients with progressive myoclonic epilepsy-6 (EPM6; 614018), Corbett et al. (2011) identified a homozygous loss-of-function mutation in the GOSR2 gene (G144W; 604027.0001). Haplotype analysis indicated a founder effect, most likely of European origin, that arose approximately 3,600 years ago. ... More on the omim web site
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 604027 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).