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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]
DDX3X (DEAD-Box Helicase 3 X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type and Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence. Among its related pathways are Innate Immune System and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DDX3Y.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA,IDA | 21589879 |
GO:0003678 | DNA helicase activity | IDA | 21589879 |
GO:0003723 | RNA binding | IBA,IDA | 21589879 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IBA,IDA | 10074132 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IMP | 10074132 |
GO:0005813 | centrosome | IDA | 28842590 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
3 | DNA Damage | ||
4 | Translational Control | ||
5 | Toll-like Receptor Signaling Pathway |
.37
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006413 | translational initiation | IMP | 26100019 |
GO:0006417 | regulation of translation | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007059 | chromosome segregation | IMP | 21730191 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | D1Pas1 31 |
|
OneToMany | |
Ddx3x 30 17 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | DDX3X 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DDX3X 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DDX3X 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddx3x 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pl10 31 |
|
ManyToMany | |
ddx3 31 |
|
ManyToMany | |||
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10835 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | bel 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | laf-1 30 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DED1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G58570 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7412 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0202100 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.10750 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.10226 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3988 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638013 | Pathogenic: Mental retardation, X-linked 102 | 41,345,403(+) | G/C | SPLICE_ACCEPTOR_VARIANT | |
646639 | Pathogenic: not provided | 41,342,606(+) | T/TG | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
662055 | Uncertain Significance: not provided | 41,346,402(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
666340 | Likely Pathogenic: Mental retardation, X-linked 102 | 41,344,095(+) | G/GT | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
666341 | Likely Pathogenic: Mental retardation, X-linked 102 | 41,344,261(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder, x-linked, syndromic, snijders blok type |
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence |
|
|
precursor t-cell acute lymphoblastic leukemia |
|
|
microcephaly |
|
|
venezuelan equine encephalitis |
|
|