Alternative titles; symbols
HGNC Approved Gene Symbol: DDX12P
Cytogenetic location: 12p13 Genomic coordinates (GRCh38): 12:1-14,600,000
Helicases are essential components of a number of multiprotein complexes, including those that regulate transcription, splicing, translation, and DNA repair. These enzymes assist in the unwinding of double-stranded DNA and RNA as an essential part of their function (summary by Amann et al., 1996).
The yeast Chl1 gene encodes a putative helicase that appears to be essential for normal chromosome transmission. Amann et al. (1996) studied 2 human genes related to the Chl1 gene of Saccharomyces cerevisiae, CHLR1 (601150) and CHLR2. The ORFs of these genes encode proteins with predicted molecular masses of 102 kD. The predicted ORFs of these 2 genes are more than 98% identical, suggesting that they may have redundant functions.
Amann et al. (1997) showed that both CHLR1 and CHLR2 are expressed only in proliferating human cell lines. Quiescent normal human fibroblasts stimulated to reenter the cell cycle by the addition of serum express CHLR1 and CHLR2 as the cells enter S phase. Furthermore, expression of CHLR1 and CHLR2 is lost when human K562 cells are treated with phorbol ester. Amann et al. (1997) also localized the human CHLR proteins to the nucleolus by indirect immunofluorescence.
Amann et al. (1996) used somatic cell hybrid analysis and fluorescence in situ hybridization to localize the CHLR2 gene to 12p13 within a duplicated region of 12p. They similarly mapped CHLR1 to 12p11.
Amann, J., Kidd, V. J., Lahti, J. M. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. J. Biol. Chem. 272: 3823-3832, 1997. [PubMed: 9013641] [Full Text: https://doi.org/10.1074/jbc.272.6.3823]
Amann, J., Valentine, M., Kidd, V. J., Lahti, J. M. Localization of Chl1-related helicase genes to human chromosome regions 12p11 and 12p13: similarity between parts of these genes and conserved human telomeric-associated DNA. Genomics 32: 260-265, 1996. [PubMed: 8833153] [Full Text: https://doi.org/10.1006/geno.1996.0113]