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This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization

Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, PTEN and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis. Deubiquitination of FOXO4 in prese

EWS is a nuclear RNA-binding protein. As a result of chromosome translocation, the EWS gene is fused to a variety of transcription factors, including ATF-1 in human neoplasias. In the Ewing family of tumors, the N-terminal domain of EWS is fused to the DNA-binding domain of various ETS transcription factors, including Fli-1, Erg, ETV1, E1AF and FEV. The EWS/Fli-1 chimeric protein acts as a more potent transcriptional activator than Fli-1 and can promote cell transformation. Two functional reg

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition

TPBG is a 420 amino acid single-pass type I membrane protein expressed by all types of trophoblasts as early as 9 weeks of development. TPBG contains an N-terminal putative signal sequence, a 310-residue extracellular region, a membrane anchorage domain and a 44-amino acid cytoplasmic tail with a potential phosphorylation site. The extracellular region has seven potential N-glycosylation sites and seven leucine-rich repeats, which are located in two regions separated by a hydrophilic stretch.

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized