HGNC Approved Gene Symbol: TBL3
Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38) : 16:1,972,053-1,982,929 (from NCBI)
TBL3 belongs to the transducin-like (WD40) superfamily, members of which contain repeats of a 40- to 45-amino acid motif containing an invariant tryptophan residue (Weinstat-Saslow et al., 1993). TBL3 is a nucleolar protein that localizes predominantly to the dense fibrillar component, which is associated with early ribosomal RNA (rRNA)-processing events, and to the granular component, which is associated with late rRNA-processing events and assembly of ribosomal particles (summary by Wada et al., 2014).
Weinstat-Saslow et al. (1993) isolated cDNAs that map to chromosome 16p in the region of the autosomal dominant polycystic kidney disease locus (601313). Sequence analysis of one of these cDNAs, TBL3, which was designated SAZD by the authors, revealed a similarity to members of the beta-transducin superfamily. The full-length TBL3 cDNA encodes a 519-amino acid protein with 7 WD40 (beta-transducin) motifs, each of which contains 40 to 45 amino acids with an invariant tryptophan residue. TBL3 shares 18 to 25% sequence identity with G protein beta subunits, with homology occurring predominantly in the conserved repeated WD40 motifs.
Wada et al. (2014) found that fluorescence-tagged TBL3 localized throughout nucleoli in transfected HeLa cells, predominantly to the dense fibrillar component and granular component. A portion also localized to the nucleoplasm. Fluorescence recovery after photobleaching showed that TBL3 associated stably with nucleoli, and association of TBL3 with nucleoli was not affected by inhibition of transcription.
By somatic cell and radiation hybrid analyses, Weinstat-Saslow et al. (1993) assigned the TBL3 gene to chromosome 16p13.3.
Wada, K., Sato, M., Araki, N., Kumeta, M., Hirai, Y., Takeyasu, K., Furukawa, K., Horigome, T. Dynamics of WD-repeat containing proteins in SSU processome components. Biochem. Cell Biol. 92: 191-199, 2014. [PubMed: 24754225] [Full Text: https://doi.org/10.1139/bcb-2014-0007]
Weinstat-Saslow, D. L., Germino, G. G., Somlo, S., Reeders, S. T. A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. Genomics 18: 709-711, 1993. [PubMed: 8307582] [Full Text: https://doi.org/10.1016/s0888-7543(05)80380-5]