DDX41

Official Full Name

DEAD-box helicase 41

Organism

Homo sapiens

GeneID

51428

Background

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. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]

Synonyms

ABS; MPLPF;

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Detailed Information

DDX41, also known as DEAD (Asp-Glu-Ala-Asp) box helicase 41, is a gene that has been garnering attention in recent years for its potential involvement in various biological processes and human diseases.

DDX41 is a member of the DEAD box family of helicases, which are proteins involved in unwinding double-stranded DNA. It is encoded by the DDX41 gene located on chromosome 5 in humans. The DEAD box helicases are characterized by a conserved Asp-Glu-Ala-Asp (DEAD) motif and are known to play crucial roles in various cellular processes, including DNA replication, transcription, and translation. A DEAD-box helicase small interfering RNA (siRNA) screening found that DDX41 acted as an intracellular DNA sensor in myeloid dendritic cells.

Functionality of DDX41

DNA Replication: DDX41 is involved in the replication of DNA, ensuring the accurate duplication of genetic material. It unwinds the double-stranded DNA template, allowing the replication machinery to access the DNA strands and synthesize new complementary strands.

Transcription: DDX41 also plays a role in transcription, the process by which genetic information is copied from DNA to RNA. It facilitates the unwinding of DNA at the promoter region, enabling the RNA polymerase enzyme to bind and initiate transcription.

Translation: In addition to its role in DNA replication and transcription, DDX41 is also involved in translation, the process by which RNA is translated into proteins. It interacts with the ribosome and helps in the proper positioning of the tRNA molecules, ensuring accurate amino acid incorporation into growing polypeptide chains.

RNA Processing: DDX41 is implicated in various aspects of RNA processing, including splicing, editing, and degradation. It interacts with other RNA-binding proteins and plays a role in the proper maturation of mRNA molecules.

DDX41 and Human Health

Given the multifaceted role of DDX41 in cellular processes, it is not surprising that mutations in this gene have been associated with various human diseases. knockdown of DDX41 has little effect on IFN-β induction in response to DNA stimulation or DNA virus infection. In addition to its role in innate immunity, both germline and acquired somatic mutations of DDX41 have been associated with myelodysplastic syndromes (MDSs) and/or acute myeloid leukemia (AML) chronic myeloid leukemia (CML), acute erythroid leukemia (AEL), and other hematolymphoid malignancies. The most frequently identified somatic mutation which is confined to a highly conserved region of DDX41 and is thought to contribute to nucleotide coordination. DDX41 mutations also lead to tumor-suppressor function due to altered pre-mRNA splicing, RNA processing, and inhibition of cell-cycle progression.

Cancer: Several studies have identified mutations in the DDX41 gene in various types of cancer, including breast, colon, and lung cancer. These mutations can lead to altered DDX41 function, which may contribute to the deregulation of DNA replication, transcription, and translation, ultimately promoting tumor development.

Neurological Disorders: DDX41 mutations have also been implicated in neurological disorders, such as autism spectrum disorder (ASD) and intellectual disability. The exact mechanisms by which DDX41 mutations contribute to these conditions are not well understood, but they may affect the proper functioning of neuronal cells and disrupt neural development.

Immunological Disorders: Recent studies have suggested a potential role for DDX41 in the immune system. Mutations in this gene may lead to impaired immune responses, increased susceptibility to infections, andautoimmune disease.

References:

Singh RS, Vidhyasagar V, Yang S, et al. DDX41 is required for cGAS-STING activation against DNA virus infection. Cell Rep. 2022;39(8):110856. doi:10.1016/j.celrep.2022.110856
Kim K, Ong F, Sasaki K. Current Understanding of DDX41 Mutations in Myeloid Neoplasms. Cancers (Basel). 2023 Jan 5;15(2):344. doi: 10.3390/cancers15020344. PMID: 36672294; PMCID: PMC9857085.

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