(Bromodomain and WD Repeat Domain Containing 1 (BRWD1))
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011].
Hu, Warnatz, Vanhecke, Wagner, Fiebitz, Thamm, Kahlem, Lehrach, Yaspo, Janitz: "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins." in: BMC genomics, Vol. 7, pp. 155, (2006) (PubMed).
Ramos, Vidal-Taboada, Bergoñon, Egeo, Fisher, Scartezzini, Oliva: "Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21." in: Biochimica et biophysica acta, Vol. 1577, Issue 3, pp. 377-83, (2002) (PubMed).