DDX5

Description

The DDX5 (DEAD-box helicase 5) is a protein-coding gene located on chromosome 17.

DDX5, also known as DEAD box protein 5 or RNA helicase p68, is an enzyme that in humans is encoded by the DDX5 gene. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. This gene consists of 13 exons, and alternatively spliced transcripts containing several intron sequences have been detected, but no isoforms encoded by these transcripts have been identified.

DDX5 is involved in the alternative regulation of pre-mRNA splicing. Its RNA helicase activity is necessary for increasing tau exon 10 inclusion in an RBM4-dependent manner. DDX5 binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis by DDX5 is highly stimulated by single-stranded RNA. DDX5 is also involved in transcriptional regulation, independent of its RNA helicase activity. It acts as a transcriptional coactivator for the androgen receptor (AR) but likely not for estrogen receptor 1 (ESR1). DDX5 synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and is involved in skeletal muscle differentiation. It is also a transcriptional coactivator for p53/TP53, participating in the p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Additionally, DDX5 is a transcriptional coactivator for RUNX2 and is involved in the regulation of osteoblast differentiation. DDX5 acts as a transcriptional repressor in a promoter-specific manner, potentially involving association with histone deacetylases, such as HDAC1. As a component of a large PER complex, DDX5 is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1, and the control of circadian rhythms.

DDX5 is also known as G17P1, HLR1, HUMP68, p68.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing