Human Gene DDX5 (uc002jek.2) Description and Page Index
Description: Homo sapiens DEAD (Asp-Glu-Ala-Asp) box helicase 5 (DDX5), mRNA. RefSeq Summary (NM_004396): This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]. Transcript (Including UTRs) Position: hg19 chr17:62,494,374-62,502,484 Size: 8,111 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr17:62,496,041-62,502,237 Size: 6,197 Coding Exon Count: 13
ID:DDX5_HUMAN DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase DDX5; EC=22.214.171.124; AltName: Full=DEAD box protein 5; AltName: Full=RNA helicase p68; FUNCTION: Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for estrogen receptor ESR1 and androgen receptor AR. Increases ESR1 AF-1 domain-mediated transactivation and ESR1 AF-1 and AF-2 domains transcriptional synergistic activity. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specicic manner; the function probbaly involves association with histone deacetylases, such as HDAC1. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Interacts with BRDT (By similarity). Identified in the spliceosome C complex. Interacts with RBM4; the interaction occurs in a RNA-independent manner. Interacts with EIF2C1 and EIF2C2. Interacts with ESR1; the interaction is enhanced by phosphorylation of ESR1 AF-1 domain. Interacts with AR, NCOA1, NCOA2, NCOA3, EP300, CREBBP, POLR2A, TP53, RUNX2 and HDAC1. Self- associates. Interacts with DDX17. INTERACTION: Q12873:CHD3; NbExp=4; IntAct=EBI-351962, EBI-523590; P45481:Crebbp (xeno); NbExp=3; IntAct=EBI-351962, EBI-296306; Q09472:EP300; NbExp=4; IntAct=EBI-351962, EBI-447295; P03372:ESR1; NbExp=8; IntAct=EBI-351962, EBI-78473; P22087:FBL; NbExp=6; IntAct=EBI-351962, EBI-358318; Q13547:HDAC1; NbExp=4; IntAct=EBI-351962, EBI-301834; O95983:MBD3; NbExp=4; IntAct=EBI-351962, EBI-1783068; P10085:Myod1 (xeno); NbExp=3; IntAct=EBI-351962, EBI-4405734; P24928:POLR2A; NbExp=3; IntAct=EBI-351962, EBI-295301; Q08775-3:Runx2 (xeno); NbExp=2; IntAct=EBI-351962, EBI-6119991; P04637:TP53; NbExp=3; IntAct=EBI-351962, EBI-366083; P04637-1:TP53; NbExp=2; IntAct=EBI-351962, EBI-3895849; P04637-7:TP53; NbExp=2; IntAct=EBI-351962, EBI-3895873; SUBCELLULAR LOCATION: Nucleus, nucleolus. PTM: Arg-502 is dimethylated, probably to asymmetric dimethylarginine. PTM: Sumoylated; sumoylation, promoted by PIAS1, promotes interaction with HDAC1 and transcriptional repression activity. Sumoylation also significantly increases stability, and reduces polyubiquitination. PTM: Polyubiquitinated, leading to proteasomal degradation. SIMILARITY: Belongs to the DEAD box helicase family. DDX5/DBP2 subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DDX5 CDC HuGE Published Literature: DDX5 Positive Disease Associations: hepatitis C, chronic Related Studies:
hepatitis C, chronic Huang, H. et al. 2006, Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C, Gastroenterology 2006 130(6) 1679-87.
Subjects with CHC carrying DDX5 minor allele or DDX5-POLG2 haplotypes are at an increased risk of developing advanced fibrosis, whereas those carrying the CPT1A minor allele are at a decreased risk.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P17844
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0000380 alternative mRNA splicing, via spliceosome GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0000398 mRNA splicing, via spliceosome GO:0000956 nuclear-transcribed mRNA catabolic process GO:0001837 epithelial to mesenchymal transition GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006397 mRNA processing GO:0008380 RNA splicing GO:0009299 mRNA transcription GO:0010501 RNA secondary structure unwinding GO:0016049 cell growth GO:0030509 BMP signaling pathway GO:0030520 intracellular estrogen receptor signaling pathway GO:0030521 androgen receptor signaling pathway GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0045069 regulation of viral genome replication GO:0045445 myoblast differentiation GO:0045667 regulation of osteoblast differentiation GO:0048511 rhythmic process GO:0060765 regulation of androgen receptor signaling pathway GO:0061614 pri-miRNA transcription from RNA polymerase II promoter GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator GO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:2001014 regulation of skeletal muscle cell differentiation GO:1902893 regulation of pri-miRNA transcription from RNA polymerase II promoter