DDX20

Probable ATP-dependent RNA helicase DDX20, also known as DEAD-box helicase 20 and gem-associated protein 3 (GEMIN3), is an enzyme that in humans is encoded by the DDX20 gene.^[5][6]

DDX20
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2OXC, 3B7G
Identifiers
Aliases	DDX20, DP103, GEMIN3, DEAD-box helicase 20
External IDs	OMIM: 606168; MGI: 1858415; HomoloGene: 5214; GeneCards: DDX20; OMA:DDX20 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.2 Start 111,754,832 bp[1] End 111,775,602 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.2 Start 105,585,586 bp[2] End 105,594,890 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis tibialis anterior muscle secondary oocyte testicle gonad pancreatic epithelial cell mucosa of ileum deltoid muscle Top expressed in otic placode otic vesicle saccule spermatid seminiferous tubule spermatocyte epiblast genital tubercle maxillary prominence mandibular prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein-macromolecule adaptor activity nucleotide binding helicase activity protein domain specific binding histone deacetylase binding protein binding nucleic acid binding hydrolase activity ATP binding Cellular component SMN-Sm protein complex cytosol membrane transcription repressor complex nucleoplasm SMN complex RNA polymerase II transcription repressor complex cytoskeleton nucleus gemini of coiled bodies cytoplasm nuclear body nucleolus Biological process RNA processing spliceosomal tri-snRNP complex assembly mRNA processing regulation of steroid biosynthetic process negative regulation of transcription by RNA polymerase II oogenesis spliceosomal snRNP assembly RNA secondary structure unwinding RNA splicing positive regulation of apoptotic process negative regulation of transcription, DNA-templated negative regulation of cell population proliferation import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11218 53975 Ensembl ENSG00000064703 ENSMUSG00000027905 UniProt Q9UHI6 Q9JJY4 RefSeq (mRNA) NM_007204 NM_017397 RefSeq (protein) NP_009135 NP_059093 Location (UCSC) Chr 1: 111.75 – 111.78 Mb Chr 3: 105.59 – 105.59 Mb PubMed search [3] [4]
Wikidata
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Function

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 has an ATPase activity and is a component of the survival of motor neuron (SMN) complex.^[6] SMN is the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs.^[6]

Clinical significance

Previous research has revealed that DDX20 may act as a tumor suppressor in hepatocellular carcinoma and as a tumor promoter in breast cancer. DDX20 deficiency enhances NF-κB activity by impairing the NF-κB-suppressive action of microRNAs, and suggest that dysregulation of the microRNA machinery components may also be involved in pathogenesis in various human diseases.^[7] Such as miRNA-140 which acts as a liver tumor suppressor, and due to a deficiency of DDX20, miRNA-140 function gets impair, this subsequent functional impairment of miRNAs could lead to hepatocarcinogenesis. Similarly,^[8] DDX20 may promote the progression of Prostate cancer (PCa) through the NF-κB pathway.^[9] In a clinical based study it has been observed that positive DP103/NF-κB feedback loop promotes constitutive NF-κB activation in invasive breast cancers and activation of this pathway is linked to cancer progression and the acquisition of chemotherapy resistance. It makes DP103 has potential as a therapeutic target for breast cancer treatment.^[10]

Interactions

DDX20 has been shown to interact with:

• EIF2C2,^[11][12]
• GEMIN4,^[11][13]
• GEMIN5,^[11][14]
• LSM2,^[15]
• SMN1,^[11][15][16]
• SNRPB,^[15]
• SNRPD3^[15] and
• SNRPG,^[15]
• SNRPD1,^[15]
• SNRPD2,^[15]
• SNRPE,^[15]
• SNRPF,^[15] and
• SIP1.^[11][15]