DDX3X

Official Full Name

DEAD-box helicase 3 X-linked

Organism

Homo sapiens

GeneID

1654

Background

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Synonyms

DBX; DDX3; HLP2; DDX14; CAP-Rf; MRX102; MRXSSB;

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Detailed Information

The DEAD (Asp-Glu-Ala-Asp)-box helicase family is the largest family of helicases in eukaryotes and is involved in almost all aspects of eukaryotic RNA metabolism.

The human genome encodes two types of DDX3 genes: the human genome encodes two types of DDX3 genes: DDX3X and its homologue, DDX3Y.

Structure and Localization of DDX3X

DDX3X (DBX, DDX3) is located on the X chromosome at p11.3-11.23 and escapes X inactivation in females. It is ubiquitously expressed in human tissues and is involved in many biological processes. DDX3Y (DBY) is located in the AZFa region of Y chromosome. Unlike its multifunctional homologue, it is expressed only in spermatocytes by translational control and is essential for spermatogenesis. The protein sequence similarity between these two proteins is 92%. Although their expression ranges and functions appear to be quite different, some evidence suggests that DDX3X and DDX3Y may be interchangeable under certain circumstances.

Functions of DDX3X

The DDX3 subfamily of DEAD-boxes includes human DDX3X, yeast Ded1p, Xenopus An3, mouse PL10, and Drosophila Belle, homologous proteins whose highly conserved structure suggests that they play key roles in the biological processes of life. As a prominent member of the DEAD-box family, DDX3X is able to regulate almost all stages of RNA metabolism, including transcription, pre-mRNA splicing, RNA export and translation. Based on its function in RNA metabolism, DDX3X has a major impact on many biological processes. Dysfunction of this helicase plays an important role in a variety of diseases such as viral infections, inflammation, intellectual disabilities, and cancer.

Figure 1. DDX3X and apoptosis.

Neurodevelopmental disease Associations of DDX3X

DDX3X-associated neurodevelopmental disorder (DDX3X-NDD) usually occurs in females and rarely in males. All affected individuals reported to date have developmental delays/mental retardation ranging from mild to severe; approximately 50% of affected girls remain nonverbal after the age of five. Hypotonia is a common condition that can be associated with feeding difficulties in infancy. Behavioral problems may include autism spectrum disorders, attention-deficit/hyperactivity disorder and hyperactivity, self-injurious acts, poor impulse control and aggression. Other manifestations include seizures, movement disorders (dyskinesia, convulsions, gait abnormalities), visual and hearing impairments, congenital heart defects, respiratory difficulties, joint laxity, and scoliosis.

References:

Mo J, Liang H, Su C, Li P, Chen J, Zhang B. DDX3X: structure, physiologic functions and cancer. Mol Cancer. 2021;20(1):38. Published 2021 Feb 24. doi:10.1186/s12943-021-01325-7
Samir P, Kesavardhana S, Patmore DM, et al. DDX3X acts as a live-or-die checkpoint in stressed cells by regulating NLRP3 inflammasome. Nature. 2019;573(7775):590-594. doi:10.1038/s41586-019-1551-2
Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH. DDX3X-Related Neurodevelopmental Disorder. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; August 27, 2020.

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