DDX3X Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DDX3X |
| Official Name | DEAD-box helicase 3 X-linked [Source:HGNC Symbol;Acc:HGNC:2745] |
| Ensembl ID | ENSG00000215301 |
| Bio databases IDs | |
| Aliases | DEAD-box helicase 3 X-linked, Helicase-like protein 2 |
| Synonyms | CAP-Rf, D1Pas1-rs2, DBX, DDX14, DDX3, DEAD-box helicase 3 X-linked, DEAD-box helicase 3, X-linked, Fibroblast growth factor inducible 14, FIN14, HLP2, MRX102, MRXSSB |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DDX3X often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding activity, bridging
- transcription factor binding
- enzyme
- ATPase
- Helicase conserved C-terminal domain
- RNA helicase
- DNA helicase
- helicase domain
- gkt motif
- cytoplasmic domain
- ATPase domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
- ribosomal small subunit binding
- nucleic acid binding
- mRNA binding
- helicase superfamily c-terminal domain
- DEAD/DEAH box helicase
- GTPase
- poly(A) binding protein
- isomerase
- protein binding
- single-stranded RNA binding
- DNA binding
- eukaryotic initiation factor 4E binding
- RNA binding
- phosphorylation site
- protein kinase activator
- gamma-tubulin binding
- nucleoside-triphosphatase
- mRNA 5' UTR binding
- transmembrane domain
- Rev activation domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- medulloblastoma
- non-Hodgkin lymphoma
- non-Hodgkin disease
- brain cancer
- neoplasia
- lung cancer
- cancer
- bleeding
- hereditary disorder
role in cell
- growth
- expression in
- apoptosis
- cell death
- survival
- proliferation
- transport in
- quantity
- molecular cleavage in
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- ribosome
- Nucleus
- Plasma Membrane
- centrosome
- Mitochondria
- cytoplasmic aggregates
- cytosol
- endoplasmic reticulum membrane
- trans Golgi network
- spliceosomes
- nucleoplasm
- nucleoli
- interchromatin granule clusters
- nuclear speckles
- stress granule
- cell membrane leading edge
- postsynaptic density
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DDX3X gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of translational initiation
- positive regulation of translation
- chromosome segregation
- intrinsic apoptotic signaling pathway
- gamete generation
- mature ribosome assembly
- positive regulation of transcription from RNA polymerase II promoter
- response to virus
- induction of apoptosis via death domain receptors
- positive regulation of interferon-alpha production
- positive regulation of protein autophosphorylation
- positive regulation of cell growth
- cellular response to osmotic stress
- positive regulation of chemokine (C-C motif) ligand 5 production
- negative regulation of cell growth
- positive regulation of interferon-beta production
- DNA duplex unwinding
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- Wnt receptor signaling pathway
- negative regulation of protein complex assembly
- negative regulation of intrinsic apoptotic signaling pathway
- positive regulation of viral genome replication
- negative regulation of translation
- intracellular signal transduction
- stress granule assembly
- positive regulation of toll-like receptor 8 signaling pathway
- positive regulation of G1/S transition of mitotic cell cycle
- positive regulation of type I interferon production
- lipid homeostasis
- positive regulation of canonical Wnt receptor signaling pathway
- positive regulation of NLRP3 inflammasome complex assembly
- translational initiation
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of gene expression
- positive regulation of gene expression
- innate immune response
- negative regulation of apoptotic process
- cellular response to arsenic-containing substance
- positive regulation of apoptotic process
- cell differentiation
- RNA secondary structure unwinding
- positive regulation of toll-like receptor 7 signaling pathway
- positive regulation of protein serine/threonine kinase activity
Cellular Component
Where in the cell the gene product is active
- cytoplasmic stress granule
- cytosolic small ribosomal subunit
- cell leading edge
- extracellular region
- plasma membrane
- eukaryotic translation initiation factor 3 complex
- nucleoplasm
- nucleus
- centrosome
- extracellular vesicular exosome
- cytoplasm
- P granule
- cytosol
- secretory granule lumen
- NLRP3 inflammasome complex
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- protein serine/threonine kinase activator activity
- poly(A) RNA binding
- signaling adaptor activity
- RNA strand annealing activity
- ribosomal small subunit binding
- gamma-tubulin binding
- transcription factor binding
- DNA binding
- ATP binding
- DNA helicase activity
- protein binding
- RNA binding
- RNA helicase activity
- CTPase activity
- mRNA 5'-UTR binding
- GTPase activity
- cadherin binding
- RNA stem-loop binding
- mRNA binding
- nucleoside-triphosphatase activity
- translation initiation factor binding
- eukaryotic initiation factor 4E binding