Family Report for: Duf_829
Duf_829 | Rank | 1 |
| Gene_locus (87) |
| Gene_locus_Frgt (8) |
| Block | X |
| Paper | Du_2013_Eukaryot.Cell_12_1517 |
| | Korfali_2011_Plos.One_6_e18762 |
| | Guo_2021_Nat.Commun_12_2046 |
| Interpro | IPR008547 DUF829 Protein of unknown function DUF829, TMEM53 DUF829_TMEM53 |
| Comment | Protein of unknown function DUF829. Contains exclusively eukaryote proteins including transmembrane protein 53. Said to be integral membrane proteins (!?) Dictyostelium discoideum Net4 (dicdi-q54yr8), which has strong homologies to mammalian DUF829/Tmem53/NET4 is found on lipid droplets (Du et al.). Seems to have a conserved catalytic triad Ser-113, Asp-220, and His-252 in TMEM53_HUMAN. Korfali et al. (2011) identified NET4 as a gene that influenced cell cycle regulation. The cell cycle effects of NET4 were dependent on p53 and RB. Knockdown of NET4 caused premature senescence due to permanent arrest of the cell cycle in MRC5 human fibroblasts, whereas it only caused a cell cycle delay at G1 phase in U2OS cells. Guo et al. (2021) analyzed the molecular pathophysiology of Tmem53 -/- mice using primary cells from the mutant mice and TMEM53 knockout cell lines and found that TMEM53 inhibits BMP signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of BMP2-activated Smad proteins. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling (Guo et al.2021) |
| Pfam | PF05705 DUF829 |
| News | OCTOBER-09-2013 |
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