Alternative titles; symbols
HGNC Approved Gene Symbol: REEP5
Cytogenetic location: 5q22.2 Genomic coordinates (GRCh38) : 5:112,876,385-112,922,227 (from NCBI)
Through study of submicroscopic deletions in 2 unrelated patients with familial adenomatous polyposis coli (FAP; 175100), Joslyn et al. (1991) found 3 genes in a 100-kb deleted segment on chromosome 5. MCC (159350), a previous candidate gene, was shown to be located outside the deleted region. One of the new genes contained a sequence identical to SRP19 (182175). The second gene, provisionally designated DP1, was transcribed in the same orientation as MCC. Two other cDNAs, DP2 and DP3, were found to overlap, forming a single gene, DP2.5, which was transcribed in the same orientation as SRP19. The DP2.5 gene was shown by Groden et al. (1991) to be the polyposis gene, as indicated in 611731.
Transport of G protein-coupled receptors (GPCRs) to the cell surface membrane is critical for receptor-ligand recognition. However, mammalian GPCR odorant receptors (ORs), when heterologously expressed in cells, are poorly expressed on the cell surface. By screening for genes that induced cell surface expression of ORs expressed in human embryonic kidney cells, Saito et al. (2004) identified mouse and human REEP1 (609139). They searched databases for homologs of REEP1 and identified several other REEP genes, including DP1, which they called REEP5. In situ hybridization of mouse olfactory epithelium revealed that, unlike Reep1, Reep5 was not expressed in olfactory neurons.
Using an in vitro system to identify Xenopus membrane proteins involved in endoplasmic reticulum (ER) network formation, followed by localization, overexpression, and deletion experiments in mammalian and yeast cells, Voeltz et al. (2006) identified the reticulons, particularly Rtn4a/NogoA (604475), and the reticulon-interacting protein DP1/Yop1 as the major components shaping the tubular ER.
Joslyn et al. (1991) identified the DP1 gene in a 100-kb segment on chromosome 5 deleted in 2 patients with APC.
Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., White, R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600, 1991. [PubMed: 1651174] [Full Text: https://doi.org/10.1016/0092-8674(81)90021-0]
Joslyn, G., Carlson, M., Thliveris, A., Albertsen, H., Gelbert, L., Samowitz, W., Groden, J., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., White, R. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66: 601-613, 1991. [PubMed: 1678319] [Full Text: https://doi.org/10.1016/0092-8674(81)90022-2]
Saito, H., Kubota, M., Roberts, R. W., Chi, Q., Matsunami, H. RTP family members induce functional expression of mammalian odorant receptors. Cell 119: 679-691, 2004. [PubMed: 15550249] [Full Text: https://doi.org/10.1016/j.cell.2004.11.021]
Voeltz, G. K., Prinz, W. A., Shibata, Y., Rist, J. M., Rapoport, T. A. A class of membrane proteins shaping the tubular endoplasmic reticulum. Cell 124: 573-586, 2006. Note: Erratum: Cell 130: 754 only, 2007. [PubMed: 16469703] [Full Text: https://doi.org/10.1016/j.cell.2005.11.047]