Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the DDX41 gene. [5] [6]
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [6] Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. [7]
DDX41 is believed to take part in several cell functions. It is mainly concentrated in the nucleus of the cell, but it can also be expressed in the cytoplasm. [8] [9] In the cytoplasm it takes part in the Interferon I production pathway by recognizing foreign cytoplasmic DNA and signaling STING. [10] It has been observed that hypomorphic DDX41 mutations impair the immune system response to viral and bacterial infections. In the nucleus, DDX41 is believed to regulate the transcriptional elongation process signaling Pol II to slow down the elongation while the splicing process is taking place. Under-expression and inhibition of DDX41 have been shown to lead to the formation of an R-loop which results in transcriptional errors with no specific patterns. [8] DDX41 is also believed to take part in the ribosome biogenesis process, given its implications in the processing of snoRNA. [11]
It has been shown that DDX41 germ-line mutations are associated with myelodysplastic syndrome and acute myeloid leukemia. [12]
SR proteins are a conserved family of proteins involved in RNA splicing. SR proteins are named because they contain a protein domain with long repeats of serine and arginine amino acid residues, whose standard abbreviations are "S" and "R" respectively. SR proteins are ~200-600 amino acids in length and composed of two domains, the RNA recognition motif (RRM) region and the RS domain. SR proteins are more commonly found in the nucleus than the cytoplasm, but several SR proteins are known to shuttle between the nucleus and the cytoplasm.
Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the RUNX1 gene.
Wilms tumor protein (WT33) is a protein that in humans is encoded by the WT1 gene on chromosome 11p.
Nucleophosmin (NPM), also known as nucleolar phosphoprotein B23 or numatrin, is a protein that in humans is encoded by the NPM1 gene.
The human DEKgene encodes the DEK protein.
Probable ATP-dependent RNA helicase DDX5 also known as DEAD box protein 5 or RNA helicase p68 is an enzyme that in humans is encoded by the DDX5 gene.
ERG is an oncogene. ERG is a member of the ETS family of transcription factors. The ERG gene encodes for a protein, also called ERG, that functions as a transcriptional regulator. Genes in the ETS family regulate embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis.
Splicing factor 1 also known as zinc finger protein 162 (ZFM162) is a protein that in humans is encoded by the SF1 gene.
Factor interacting with PAPOLA and CPSF1 is a protein that in humans is encoded by the FIP1L1 gene. A medically important aspect of the FIP1L1 gene is its fusion with other genes to form fusion genes which cause clonal hypereosinophilia and leukemic diseases in humans.
Transcription elongation regulator 1, also known as TCERG1, is a protein which in humans is encoded by the TCERG1 gene.
Splicing factor 3B subunit 3 is a protein that in humans is encoded by the SF3B3 gene.
Eukaryotic initiation factor 4A-III is a protein that in humans is encoded by the EIF4A3 gene.
ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene.
Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 is an enzyme that in humans is encoded by the DHX38 gene.
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.
Probable ATP-dependent RNA helicase DDX56 is an enzyme that in humans is encoded by the DDX56 gene.
Probable ATP-dependent RNA helicase DDX10 is an enzyme that in humans is encoded by the DDX10 gene.
DnaJ homolog subfamily C member 2 is a protein that in humans is encoded by the DNAJC2 gene.
Probable ATP-dependent RNA helicase DDX23 is an enzyme that in humans is encoded by the DDX23 gene.
Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 is an enzyme that in humans is encoded by the DHX16 gene.