Alternative titles; symbols
HGNC Approved Gene Symbol: POLR1G
Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38) : 19:45,406,644-45,410,737 (from NCBI)
In the course of characterizing ERCC1 (126380), a DNA repair gene on chromosome 19q13.2-q13.3, Hoeijmakers et al. (1989) found that its 3-prime terminus overlaps with the 3-prime end of another gene, which they designated ASE1. This exceptional type of gene overlap is conserved in the mouse and even in the yeast ERCC1 homolog, RAD10, suggesting an important biologic function.
Yamamoto et al. (2004) purified the mouse polymerase I complex and cloned the 49-kD polypeptide, Paf49. By database analysis, they determined that Paf49 is the mouse homolog of human ASE1. The deduced human ASE1 protein contains 510 amino acids.
By coimmunoprecipitation assays, Yamamoto et al. (2004) confirmed that mouse Paf49 interacts with the polymerase I complex, specifically with Paf53 and Taf1a (604903). Mutation analysis indicated that the N terminus of Paf49 interacts with Paf53 and Taf1a, and the C terminus may also contribute to a lesser extent to the interaction with Taf1a. In exponentially growing mouse fibroblasts, Paf49 colocalized with the ribosomal transcriptional activation factor Ubf (600673) within large discrete nucleoli. When cells were cultured in serum-restricted medium, some Paf49 dispersed into the nucleoplasm.
Hoeijmakers et al. (1989) identified the ASE1 gene (CD3EAP) on chromosome 19q13.2-q13.3. Its 3-prime end overlaps the 3-prime end of the ERCC1 gene.
Hoeijmakers, J. H. J., Weeda, G., Troelstra, C., van Duin, M., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D. (Sub)chromosomal localization of the human excision repair genes ERCC-3 and -6, and identification of a gene (ASE-1) overlapping with ERCC-1. (Abstract) Cytogenet. Cell Genet. 51: 1014 only, 1989.
Yamamoto, K., Yamamoto, M., Hanada, K., Nogi, Y., Matsuyama, T., Muramatsu, M. Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription. Molec. Cell. Biol. 24: 6338-6349, 2004. [PubMed: 15226435] [Full Text: https://doi.org/10.1128/MCB.24.14.6338-6349.2004]