DDX3X Gene (Protein Coding)

DEAD-Box Helicase 3 X-Linked

GC0XP041333
GIFtS:
48
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 stimulate... See more...

Aliases for DDX3X Gene

Aliases for DDX3X Gene

  • DEAD-Box Helicase 3 X-Linked 2 3 5
  • HLP2 2 3 4
  • DBX 2 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 3, X-Linked 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Helicase 3, X-Linked 2 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 3 2 3
  • DEAD Box Protein 3, X-Chromosomal 3 4
  • ATP-Dependent RNA Helicase DDX3X 3 4
  • Helicase-Like Protein 2 3 4
  • CAP-Rf 3 4
  • DDX14 2 3
  • DDX3 3 4
  • DEAD Box, X Isoform 4
  • DEAD/H Box-3 3
  • EC 3.6.4.13 4
  • EC 3.6.1 50
  • MRX102 3
  • MRXSSB 3
  • DDX3X 5

External Ids for DDX3X Gene

Previous HGNC Symbols for DDX3X Gene

  • DDX3

Previous GeneCards Identifiers for DDX3X Gene

  • GC0XP040037
  • GC0XP040223
  • GC0XP040948
  • GC0XP041077
  • GC0XP041192
  • GC0XP038924

Summaries for DDX3X Gene

Entrez Gene Summary for DDX3X Gene

  • 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]

GeneCards Summary for DDX3X Gene

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 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DDX3Y.

UniProtKB/Swiss-Prot Summary for DDX3X Gene

  • Multifunctional ATP-dependent RNA helicase (PubMed:17357160, PubMed:21589879, PubMed:31575075). The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity (PubMed:29222110). In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs (PubMed:17357160, PubMed:21589879). Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA (PubMed:30256975). Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities (Probable). Involved in transcription regulation (PubMed:16818630, PubMed:18264132). Positively regulates CDKN1A/WAF1/CIP1 transcription in an SP1-dependent manner, hence inhibits cell growth. This function requires its ATPase, but not helicase activity (PubMed:16818630, PubMed:18264132). CDKN1A up-regulation may be cell-type specific (PubMed:18264132). Binds CDH1/E-cadherin promoter and represses its transcription (PubMed:18264132). Potentiates HNF4A-mediated MTTP transcriptional activation; this function requires ATPase, but not helicase activity. Facilitates HNF4A acetylation, possibly catalyzed by CREBBP/EP300, thereby increasing the DNA-binding affinity of HNF4 to its response element. In addition, disrupts the interaction between HNF4 and SHP that forms inactive heterodimers and enhances the formation of active HNF4 homodimers. By promoting HNF4A-induced MTTP expression, may play a role in lipid homeostasis (PubMed:28128295). May positively regulate TP53 transcription (PubMed:28842590). Associates with mRNPs, predominantly with spliced mRNAs carrying an exon junction complex (EJC) (PubMed:17095540, PubMed:18596238). Involved in the regulation of translation initiation (PubMed:18628297, PubMed:17667941, PubMed:22872150). Not involved in the general process of translation, but promotes efficient translation of selected complex mRNAs, containing highly structured 5'-untranslated regions (UTR) (PubMed:20837705, PubMed:22872150). This function depends on helicase activity (PubMed:20837705, PubMed:22872150). Might facilitate translation by resolving secondary structures of 5'-UTRs during ribosome scanning (PubMed:20837705). Alternatively, may act prior to 43S ribosomal scanning and promote 43S pre-initiation complex entry to mRNAs exhibiting specific RNA motifs, by performing local remodeling of transcript structures located close to the cap moiety (PubMed:22872150). Independently of its ATPase activity, promotes the assembly of functional 80S ribosomes and disassembles from ribosomes prior to the translation elongation process (PubMed:22323517). Positively regulates the translation of cyclin E1/CCNE1 mRNA and consequently promotes G1/S-phase transition during the cell cycle (PubMed:20837705). May activate TP53 translation (PubMed:28842590). Required for endoplasmic reticulum stress-induced ATF4 mRNA translation (PubMed:29062139). Independently of its ATPase/helicase activity, enhances IRES-mediated translation; this activity requires interaction with EIF4E (PubMed:17667941, PubMed:22323517). Independently of its ATPase/helicase activity, has also been shown specifically repress cap-dependent translation, possibly by acting on translation initiation factor EIF4E (PubMed:17667941). Involved in innate immunity, acting as a viral RNA sensor. Binds viral RNAs and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:31575075, PubMed:20127681, PubMed:21170385). Potentiate MAVS/DDX58-mediated induction of IFNB in early stages of infection (PubMed:20127681, PubMed:21170385). Enhances IFNB1 expression via IRF3/IRF7 pathway and participates in NFKB activation in the presence of MAVS and TBK1 (PubMed:18583960, PubMed:18636090, PubMed:21170385, PubMed:27980081, PubMed:19913487). Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, acts as a scaffolding adapter that links IKBKE and IRF3 and coordinates their activation (PubMed:23478265). Involved in the TLR7/TLR8 signaling pathway leading to type I interferon induction, including IFNA4 production. In this context, acts as an upstream regulator of IRF7 activation by MAP3K14/NIK and CHUK/IKKA. Stimulates CHUK autophosphorylation and activation following physiological activation of the TLR7 and TLR8 pathways, leading to MAP3K14/CHUK-mediated activatory phosphorylation of IRF7 (PubMed:30341167). Also stimulates MAP3K14/CHUK-dependent NF-kappa-B signaling (PubMed:30341167). Negatively regulates TNF-induced IL6 and IL8 expression, via the NF-kappa-B pathway. May act by interacting with RELA/p65 and trapping it in the cytoplasm (PubMed:27736973). May also bind IFNB promoter; the function is independent of IRF3 (PubMed:18583960). Involved in both stress and inflammatory responses (By similarity). Independently of its ATPase/helicase activity, required for efficient stress granule assembly through its interaction with EIF4E, hence promotes survival in stressed cells (PubMed:21883093). Independently of its helicase activity, regulates NLRP3 inflammasome assembly through interaction with NLRP3 and hence promotes cell death by pyroptosis during inflammation. This function is independent of helicase activity (By similarity). Therefore DDX3X availability may be used to interpret stress signals and choose between pro-survival stress granules and pyroptotic NLRP3 inflammasomes and serve as a live-or-die checkpoint in stressed cells (By similarity). In association with GSK3A/B, negatively regulates extrinsic apoptotic signaling pathway via death domain receptors, including TNFRSF10B, slowing down the rate of CASP3 activation following death receptor stimulation (PubMed:18846110). Cleavage by caspases may inactivate DDX3X and relieve the inhibition (PubMed:18846110). Independently of its ATPase/helicase activity, allosteric activator of CSNK1E. Stimulates CSNK1E-mediated phosphorylation of DVL2, thereby involved in the positive regulation of Wnt/beta-catenin signaling pathway. Also activates CSNK1A1 and CSNK1D in vitro, but it is uncertain if these targets are physiologically relevant (PubMed:23413191, PubMed:29222110). ATPase and casein kinase-activating functions are mutually exclusive (PubMed:29222110). May be involved in mitotic chromosome segregation (PubMed:21730191).
  • (Microbial infection) Facilitates hepatitis C virus (HCV) replication (PubMed:29899501). During infection, HCV core protein inhibits the interaction between MAVS and DDX3X and therefore impairs MAVS-dependent INFB induction and might recruit DDX3X to HCV replication complex (PubMed:21170385).
  • (Microbial infection) Facilitates HIV-1 replication (PubMed:15507209, PubMed:18583960, PubMed:21589879, PubMed:22872150, PubMed:29899501). Acts as a cofactor for XPO1-mediated nuclear export of HIV-1 Rev RNAs (PubMed:15507209, PubMed:18583960, PubMed:29899501). This function is strongly stimulated in the presence of TBK1 and requires DDX3X ATPase activity (PubMed:18583960).
  • (Microbial infection) Facilitates Zika virus (ZIKV) replication.
  • (Microbial infection) Facilitates Dengue virus (DENV) replication.
  • (Microbial infection) Facilitates Venezuelan equine encephalitis virus (VEEV) replication.

Gene Wiki entry for DDX3X Gene

Additional gene information for DDX3X Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX3X Gene

Genomics for DDX3X Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DDX3X Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX3X on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX3X

Top Transcription factor binding sites by QIAGEN in the DDX3X gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • p53
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DDX3X Gene

Latest Assembly
chrX:41,333,308-41,364,472
(GRCh38/hg38)
Size:
31,165 bases
Orientation:
Plus strand

Previous Assembly
chrX:41,192,561-41,223,725
(GRCh37/hg19 by Entrez Gene)
Size:
31,165 bases
Orientation:
Plus strand

chrX:41,192,651-41,223,725
(GRCh37/hg19 by Ensembl)
Size:
31,075 bases
Orientation:
Plus strand

Genomic View for DDX3X Gene

Genes around DDX3X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX3X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX3X Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DDX3X Gene

Proteins for DDX3X Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for DDX3X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00571-DDX3X_HUMAN
    Recommended name:
    ATP-dependent RNA helicase DDX3X
    Protein Accession:
    O00571
    Secondary Accessions:
    • A8K538
    • B4E3E8
    • O15536

    Protein attributes for DDX3X Gene

    Size:
    662 amino acids
    Molecular mass:
    73243 Da
    Quaternary structure:
    • Homodimer; can bind RNA as a monomer and as a dimer/oligomer (PubMed:27546789, PubMed:31300642). Interacts with TDRD3 (PubMed:18632687). Interacts (when phosphorylated at Ser-102) with IRF3; the interaction facilitates the phosphorylation and activation of IRF3 by IKBKE (PubMed:23478265, PubMed:27980081). Directly interacts with XPO1/CRM1 (PubMed:15507209, PubMed:30131165, PubMed:31575075). The interaction with XPO1/CMR1 is dependent on the DDX3X nuclear export signal motif and XPO1 interaction with GTPase RAN in its active GTP-bound form (PubMed:31575075, PubMed:30131165). Weakly interacts with TBKBP1/SINTBAD (PubMed:27980081). Directly interacts with TRAF3; this interaction stimulates TRAF3 'Lys-63' ubiquitination (PubMed:27980081). Interacts with CSNK1E in a Wnt-dependent manner; this interaction greatly enhances CSNK1E affinity for ATP, stimulates its kinase activity and promotes CSNK1E-mediated DVL2 phosphorylation (PubMed:23413191, PubMed:29222110). In the presence of RNA, the interaction is decreased (PubMed:29222110). Also interacts with CSNK1D and stimulates its kinase activity (PubMed:23413191, PubMed:29222110). Interacts with TRPV4; this interaction is decreased when the TRPV4 channel is activated, leading to DDX3X relocalization to the nucleus (PubMed:29899501). Interacts with MAP3K14/NIK (PubMed:30341167). Directly interacts with CHUK/IKKA after physiological activation of the TLR7 and TLR8 pathways; this interaction enhances CHUK autophosphorylation (PubMed:30341167). May associate with EIF4F complex, composed of at least EIF4A, EIF4E and EIF4G1/EIF4G3 (Probable). Directly interacts with EIF4E in an RNA-independent manner; this interaction enhances EIF4E cap-binding ability (PubMed:17667941, PubMed:21883093, PubMed:28733330). Directly interacts with EIF4G1 in an RNA-independent manner (PubMed:22872150). DDX3X competes with EIF4G1 for interaction with EIF4E (PubMed:17667941, PubMed:21883093). Interacts with EIF4A1 and EIF2S1 in an RNA-independent manner (PubMed:18596238, PubMed:22323517). Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex, including with EIF3B and EIF3C subunits (PubMed:18628297, PubMed:22323517). Directly interacts with IKBKE/IKKE; this interaction stimulates IKBKE activating autophosphorylation and is induced upon viral infection (PubMed:18636090, PubMed:20657822, PubMed:23478265, PubMed:27980081). Interacts with TBK1 (PubMed:20375222). Interacts with SP1; this interaction potentiates SP1-induced CDKN1A/WAF1/CIP1 transcription (PubMed:16818630). Interacts with GSK3A and GSK3B (PubMed:18846110). Interacts with several death receptors, inclusing FAS, TNFRSF10A and TNFRSF10B (PubMed:18846110). Recruited to TNFRSF10B in the absence of receptor stimulation. When TNFRSF10B is stimulated, further recruited to the receptor and cleaved by caspases. A large proteolytic fragment remains associated with TNFRSF10B (PubMed:18846110). Interacts (via C-terminus) with NXF1/TAP; this interaction may be partly involved in DDX3X nuclear export and in NXF1 localization to stress granules (PubMed:18596238). Identified in an mRNP complex, composed of at least DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1/2, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1 (PubMed:19029303). The interaction with IGF2BP1/2 is RNA-dependent (PubMed:22323517). Directly interacts with PABPC1/PABP1 in an RNA-independent manner (PubMed:18596238, PubMed:21883093, PubMed:22872150, PubMed:28733330). This interaction increases in stressed cells and decreases during cell recovery (PubMed:21883093). Interacts (via C-terminus) with MAVS/IPS-1; this interaction occurs rapidly, but transiently after Sendai virus infection (PubMed:20127681, PubMed:21170385, PubMed:27980081). The interaction potentiates MAVS-mediated IFNB induction (PubMed:20127681, PubMed:21170385). Interacts with ERCC6/CBS (PubMed:26030138). Interacts with DHX33 in an RNA-independent manner (PubMed:26100019). Interacts with DDX5 in the cytoplasm; this interaction may be more efficient when both proteins are unphosphorylated (PubMed:22034099). Interacts with DDX58/RIG-1 (PubMed:20127681). Interacts with IFIH1/MDA5 (PubMed:20127681). Interacts with NCAPH; this interaction may be important for the NCAPH localization at condensing chromosomes during mitosis (PubMed:21730191). Interacts with NLRP3 (via NACHT domain) under inflammasome-activating conditions (By similarity). Interacts with CAPRIN1 (PubMed:28733330). Interacts with HNF4A and NR0B2/SHP in an RNA-independent manner; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers (PubMed:28128295). Interacts with CREBBP/CBP (PubMed:28128295). Interacts with EP300/p300 (PubMed:28128295). Interacts with gamma-tubulin (PubMed:28842590). Interacts with phosphorylated TP53 (PubMed:28842590). Directly interacts with RELA/p65; this interaction may trap RELA in the cytoplasm, impairing nuclear relocalization upon TNF activating signals (PubMed:27736973).
    • (Microbial infection) Interacts with hepatitis B virus (HBV) polymerase in the cytoplasm; this interaction may inhibit DDX3X interaction with the IKBKE/TBK1 complex, and hence impair IKBKE/TBK1-mediated increase in IFNB production.
    • (Microbial infection) Directly interacts with hepatitis C virus (HCV) core protein in the cytoplasm.
    • (Microbial infection) Interacts with vaccinia virus (VACV) protein K7.
    • (Microbial infection) Interacts with HIV-1 protein Rev.
    • (Microbial infection) Interacts with Venezuelan equine encephalitis virus non-structural protein 3.
    Miscellaneous:
    • Encoded by an chromosome X-linked gene which may escape X chromosome inactivation in females. DDX3Y, its homolog on chromosome Y, is located on the Y non-recombinant portion.

    Three dimensional structures from OCA and Proteopedia for DDX3X Gene

    Alternative splice isoforms for DDX3X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX3X Gene

Protein Expression for DDX3X Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DDX3X Gene

O00571:
  • DMGFEPQ
  • NITKDLLDLLVEAKQEVPSWLE
  • VAARGLDI
  • YIPPHLR
  • LAPTREL
  • TGSGKTAAF
  • DKRSFLLDLLNATGKDSL
  • DEADRML
  • ENGRYGRRKQ
  • FSATFPKEIQ
  • RGFGGGGYGGFYN
  • DKDSSGWS
  • GSGSRGRFD
  • LVLDEADR
  • IHGDRSQ
  • NCPPHIE
  • VINFDLP
  • LVFVETK
  • VLDEADRM
  • YIFLAVGRVGS
  • VGSTSENITQ
  • IPVEATG
  • TRELAVQ
  • DREEALHQFRSG
  • DKDAYSSFGSR
  • DYRQSSG
  • VATPGRL
  • TGINFEKYDDIPV
  • AQTGSGKT
  • PTPVQKHAIPII
  • MGEIIMGNI
  • ADSLEDF
  • APTRELA
  • ATPGRLVD
  • HRIGRTGR
  • PCVVYGGA
  • VGRVGSTSENI
  • VYGGADI
  • TSIHGDR

Post-translational modifications for DDX3X Gene

  • Phosphorylated by TBK1; the phosphorylation is required for the synergistic induction of IFNB mediated by TBK1 and DDX3X (PubMed:18583960). Phosphorylated by IKBKE at Ser-102 after ssRNA viral infection; enhances the induction of INFB promoter by IRF3 (PubMed:18583960, PubMed:23478265). The cytoplasmic form is highly phosphorylated in the G1/S phase of the cell cycle and much less at G2/M (PubMed:22034099). Phosphorylation by CSNK1E may inhibit RNA-stimulated ATPase activity (PubMed:29222110).
  • Upon stimulation of death receptors, including TNFRSF10B, recruited to receptors and cleaved by caspases. Proteolytic fragments remain associated with the receptors. This cleavage presumably inactivates DDX3X anti-apoptotic function.
  • Ubiquitination at Lys55 and Lys554
  • Modification sites at PhosphoSitePlus

Other Protein References for DDX3X Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for DDX3X

Domains & Families for DDX3X Gene

Gene Families for DDX3X Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for DDX3X Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAD-box

Suggested Antigen Peptide Sequences for DDX3X Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55031, highly similar to ATP-dependent RNA helicase DDX3X (EC 3.6.1.-) (B4DLA0_HUMAN)
  • cDNA FLJ60675, highly similar to ATP-dependent RNA helicase DDX3X (EC 3.6.1.-) (B4DLU5_HUMAN)
  • cDNA FLJ52848, highly similar to ATP-dependent RNA helicase DDX3X (EC 3.6.1.-) (B4E3C4_HUMAN)
  • cDNA FLJ60399, highly similar to ATP-dependent RNA helicase DDX3X (EC 3.6.1.-) (B4E3E8_HUMAN)
  • ATP-dependent RNA helicase DDX3X (B5BTY4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00571

UniProtKB/Swiss-Prot:

DDX3X_HUMAN :
  • The C-terminus (residues 536-662) is dispensable for DDX3X trafficking.
  • Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.
Domain:
  • The C-terminus (residues 536-662) is dispensable for DDX3X trafficking.
Family:
  • Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.
genes like me logo Genes that share domains with DDX3X: view

Function for DDX3X Gene

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Molecular function for DDX3X Gene

UniProtKB/Swiss-Prot Function:
Multifunctional ATP-dependent RNA helicase (PubMed:17357160, PubMed:21589879, PubMed:31575075). The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity (PubMed:29222110). In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs (PubMed:17357160, PubMed:21589879). Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA (PubMed:30256975). Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities (Probable). Involved in transcription regulation (PubMed:16818630, PubMed:18264132). Positively regulates CDKN1A/WAF1/CIP1 transcription in an SP1-dependent manner, hence inhibits cell growth. This function requires its ATPase, but not helicase activity (PubMed:16818630, PubMed:18264132). CDKN1A up-regulation may be cell-type specific (PubMed:18264132). Binds CDH1/E-cadherin promoter and represses its transcription (PubMed:18264132). Potentiates HNF4A-mediated MTTP transcriptional activation; this function requires ATPase, but not helicase activity. Facilitates HNF4A acetylation, possibly catalyzed by CREBBP/EP300, thereby increasing the DNA-binding affinity of HNF4 to its response element. In addition, disrupts the interaction between HNF4 and SHP that forms inactive heterodimers and enhances the formation of active HNF4 homodimers. By promoting HNF4A-induced MTTP expression, may play a role in lipid homeostasis (PubMed:28128295). May positively regulate TP53 transcription (PubMed:28842590). Associates with mRNPs, predominantly with spliced mRNAs carrying an exon junction complex (EJC) (PubMed:17095540, PubMed:18596238). Involved in the regulation of translation initiation (PubMed:18628297, PubMed:17667941, PubMed:22872150). Not involved in the general process of translation, but promotes efficient translation of selected complex mRNAs, containing highly structured 5'-untranslated regions (UTR) (PubMed:20837705, PubMed:22872150). This function depends on helicase activity (PubMed:20837705, PubMed:22872150). Might facilitate translation by resolving secondary structures of 5'-UTRs during ribosome scanning (PubMed:20837705). Alternatively, may act prior to 43S ribosomal scanning and promote 43S pre-initiation complex entry to mRNAs exhibiting specific RNA motifs, by performing local remodeling of transcript structures located close to the cap moiety (PubMed:22872150). Independently of its ATPase activity, promotes the assembly of functional 80S ribosomes and disassembles from ribosomes prior to the translation elongation process (PubMed:22323517). Positively regulates the translation of cyclin E1/CCNE1 mRNA and consequently promotes G1/S-phase transition during the cell cycle (PubMed:20837705). May activate TP53 translation (PubMed:28842590). Required for endoplasmic reticulum stress-induced ATF4 mRNA translation (PubMed:29062139). Independently of its ATPase/helicase activity, enhances IRES-mediated translation; this activity requires interaction with EIF4E (PubMed:17667941, PubMed:22323517). Independently of its ATPase/helicase activity, has also been shown specifically repress cap-dependent translation, possibly by acting on translation initiation factor EIF4E (PubMed:17667941). Involved in innate immunity, acting as a viral RNA sensor. Binds viral RNAs and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:31575075, PubMed:20127681, PubMed:21170385). Potentiate MAVS/DDX58-mediated induction of IFNB in early stages of infection (PubMed:20127681, PubMed:21170385). Enhances IFNB1 expression via IRF3/IRF7 pathway and participates in NFKB activation in the presence of MAVS and TBK1 (PubMed:18583960, PubMed:18636090, PubMed:21170385, PubMed:27980081, PubMed:19913487). Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, acts as a scaffolding adapter that links IKBKE and IRF3 and coordinates their activation (PubMed:23478265). Involved in the TLR7/TLR8 signaling pathway leading to type I interferon induction, including IFNA4 production. In this context, acts as an upstream regulator of IRF7 activation by MAP3K14/NIK and CHUK/IKKA. Stimulates CHUK autophosphorylation and activation following physiological activation of the TLR7 and TLR8 pathways, leading to MAP3K14/CHUK-mediated activatory phosphorylation of IRF7 (PubMed:30341167). Also stimulates MAP3K14/CHUK-dependent NF-kappa-B signaling (PubMed:30341167). Negatively regulates TNF-induced IL6 and IL8 expression, via the NF-kappa-B pathway. May act by interacting with RELA/p65 and trapping it in the cytoplasm (PubMed:27736973). May also bind IFNB promoter; the function is independent of IRF3 (PubMed:18583960). Involved in both stress and inflammatory responses (By similarity). Independently of its ATPase/helicase activity, required for efficient stress granule assembly through its interaction with EIF4E, hence promotes survival in stressed cells (PubMed:21883093). Independently of its helicase activity, regulates NLRP3 inflammasome assembly through interaction with NLRP3 and hence promotes cell death by pyroptosis during inflammation. This function is independent of helicase activity (By similarity). Therefore DDX3X availability may be used to interpret stress signals and choose between pro-survival stress granules and pyroptotic NLRP3 inflammasomes and serve as a live-or-die checkpoint in stressed cells (By similarity). In association with GSK3A/B, negatively regulates extrinsic apoptotic signaling pathway via death domain receptors, including TNFRSF10B, slowing down the rate of CASP3 activation following death receptor stimulation (PubMed:18846110). Cleavage by caspases may inactivate DDX3X and relieve the inhibition (PubMed:18846110). Independently of its ATPase/helicase activity, allosteric activator of CSNK1E. Stimulates CSNK1E-mediated phosphorylation of DVL2, thereby involved in the positive regulation of Wnt/beta-catenin signaling pathway. Also activates CSNK1A1 and CSNK1D in vitro, but it is uncertain if these targets are physiologically relevant (PubMed:23413191, PubMed:29222110). ATPase and casein kinase-activating functions are mutually exclusive (PubMed:29222110). May be involved in mitotic chromosome segregation (PubMed:21730191).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates hepatitis C virus (HCV) replication (PubMed:29899501). During infection, HCV core protein inhibits the interaction between MAVS and DDX3X and therefore impairs MAVS-dependent INFB induction and might recruit DDX3X to HCV replication complex (PubMed:21170385).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates HIV-1 replication (PubMed:15507209, PubMed:18583960, PubMed:21589879, PubMed:22872150, PubMed:29899501). Acts as a cofactor for XPO1-mediated nuclear export of HIV-1 Rev RNAs (PubMed:15507209, PubMed:18583960, PubMed:29899501). This function is strongly stimulated in the presence of TBK1 and requires DDX3X ATPase activity (PubMed:18583960).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates Zika virus (ZIKV) replication.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates Dengue virus (DENV) replication.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates Venezuelan equine encephalitis virus (VEEV) replication.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000269|PubMed:15507209, ECO:0000269|PubMed:17357160, ECO:0000269|PubMed:21589879, ECO:0000269|PubMed:31300642, ECO:0000269|PubMed:31575075};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.04 mM for ATP (in the absence of nucleic acid) {ECO:0000269|PubMed:17357160}; KM=0.03 mM for ATP (in the presence of ssDNA oligonucleoside dA200) {ECO:0000269|PubMed:17357160}; KM=0.062 mM for ATP (in the absence of nucleic acid) {ECO:0000269|PubMed:21589879}; KM=0.045 mM for ATP (in the presence of RNA oligo(rU)20) {ECO:0000269|PubMed:21589879}; KM=0.047 mM for ATP (in the presence of DNA oligo(dT)20) {ECO:0000269|PubMed:21589879}; Note=kcat is 14 min(-1) for ATP hydrolysis in the absence of nucleic acid (PubMed:17357160). kcat is 36 min(-1) for ATP hydrolysis in the presence of ssDNA oligonucleoside dA200 (PubMed:17357160). kcat is 1.6 min(-1) for ATP hydrolysis in the absence of nucleic acid (PubMed:21589879). kcat is 3.2 min(-1) for ATP hydrolysis in the presence of RNA oligo(rU)20 (PubMed:21589879). kcat is 3.8 min(-1) for ATP hydrolysis in the presence of DNA oligo(dT)20 (PubMed:21589879). {ECO:0000269|PubMed:17357160, ECO:0000269|PubMed:21589879};

Enzyme Numbers (IUBMB) for DDX3X Gene

Phenotypes From GWAS Catalog for DDX3X Gene

Gene Ontology (GO) - Molecular Function for DDX3X Gene

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
genes like me logo Genes that share ontologies with DDX3X: view
genes like me logo Genes that share phenotypes with DDX3X: view

Human Phenotype Ontology for DDX3X Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDX3X Gene

MGI Knock Outs for DDX3X:

Animal Models for research

miRNA for DDX3X Gene

miRTarBase miRNAs that target DDX3X

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX3X

No data available for Transcription Factor Targets and HOMER Transcription for DDX3X Gene

Localization for DDX3X Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX3X Gene

Cell membrane. Nucleus. Cytoplasm. Cytoplasm, Stress granule. Inflammasome. Cell projection, lamellipodium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Shuttles between the nucleus and the cytosol (PubMed:15507209, PubMed:18636090, PubMed:29899501, PubMed:31575075, PubMed:30131165). Exported from the nucleus partly through the XPO1/CRM1 system and partly through NXF1/TAP (PubMed:15507209, PubMed:18636090, PubMed:18596238, PubMed:31575075, PubMed:30131165). Localizes to nuclear pores on the outer side of the nuclear membrane (PubMed:15507209). In the cytosol, partly colocalizes with mitochondria (PubMed:20127681). At G0, predominantly located in nucleus. In G1/S phase, predominantly cytoplasmic (PubMed:22034099). During prophase/prometaphase, localizes in close proximity to the condensing chromosomes (PubMed:30131165, PubMed:21730191). During telophase, localizes around the newly synthesized nuclear membrane and in the cytoplasm (PubMed:22034099). Colocalizes with TRPV4 at the plasma membrane. When TRPV4 channel is activated, intracellular Ca(2+) levels increase and the calmodulin/CAMKII pathway is activated, relocalizes to the nucleus (PubMed:29899501). WNT3A stimulation promotes DDX3 recruitment to the plasma membrane (PubMed:23413191). At the leading edge of migrating fibroblasts, colocalizes with CAPRIN1 and PABPC1 (PubMed:28733330). Localizes to centrosome throughout the cell cycle and associates with TP53 at centrosome during mitosis (PubMed:28842590). Translocates to the nucleus in response to HPIV-3 virus-mediated infection (PubMed:31575075). {ECO:0000269 PubMed:15507209, ECO:0000269 PubMed:18596238, ECO:0000269 PubMed:18636090, ECO:0000269 PubMed:20127681, ECO:0000269 PubMed:21730191, ECO:0000269 PubMed:22034099, ECO:0000269 PubMed:23413191, ECO:0000269 PubMed:28733330, ECO:0000269 PubMed:28842590, ECO:0000269 PubMed:29899501, ECO:0000269 PubMed:30131165, ECO:0000269 PubMed:31575075}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX3X gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX3X Gene

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
genes like me logo Genes that share ontologies with DDX3X: view

Pathways & Interactions for DDX3X Gene

genes like me logo Genes that share pathways with DDX3X: view

Pathways by source for DDX3X Gene

1 BioSystems pathway for DDX3X Gene
3 Reactome pathways for DDX3X Gene
2 Cell Signaling Technology pathways for DDX3X Gene
1 GeneTex pathway for DDX3X Gene

SIGNOR curated interactions for DDX3X Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DDX3X Gene

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
genes like me logo Genes that share ontologies with DDX3X: view

Drugs & Compounds for DDX3X Gene

Products:

  1. Drug products for research

(3) Drugs for DDX3X Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for DDX3X Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with DDX3X: view

Transcripts for DDX3X Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for DDX3X Gene

5 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
69 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX3X

Alternative Splicing Database (ASD) splice patterns (SP) for DDX3X Gene

No ASD Table

Relevant External Links for DDX3X Gene

GeneLoc Exon Structure for
DDX3X

Expression for DDX3X Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX3X Gene

mRNA expression in normal human tissues for DDX3X Gene
mRNA expression by GTEx for DDX3X GenemRNA expression by BioGPS for DDX3X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX3X Gene

This gene is overexpressed in Bone marrow stromal cell (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX3X Gene



Protein tissue co-expression partners for DDX3X Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX3X

SOURCE GeneReport for Unigene cluster for DDX3X Gene:

Hs.743263

mRNA Expression by UniProt/SwissProt for DDX3X Gene:

O00571-DDX3X_HUMAN
Tissue specificity: Widely expressed (PubMed:15294876). In testis, expressed in spermatids (PubMed:15294876). Expressed in epidermis and liver (at protein level) (PubMed:16818630, PubMed:16301996).

Evidence on tissue expression from TISSUES for DDX3X Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Skin(4.6)
  • Blood(4.6)
  • Lung(3.4)
  • Intestine(3.4)
  • Lymph node(2.9)
  • Kidney(2.9)
  • Spleen(2.8)
  • Bone marrow(2.8)
  • Heart(2.6)
  • Eye(2.5)
  • Muscle(2.5)
  • Thyroid gland(2.4)
  • Pancreas(2.3)
  • Adrenal gland(2.3)
  • Gall bladder(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX3X Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with DDX3X: view

Primer products for research

No data available for mRNA differential expression in normal tissues for DDX3X Gene

Orthologs for DDX3X Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX3X Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 96 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia D1Pas1 30
  • 95 (a)
 OneToMany
Ddx3x 29 16 30
  • 92.28 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia DDX3X 29 30
  • 94.65 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DDX3X 29 30
  • 93.64 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves DDX3X 29 30
  • 81.76 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 82 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ddx3x 29
  • 77.81 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pl10 30
  • 76 (a)
 ManyToMany
ddx3 30
  • 73 (a)
 ManyToMany
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10835 29
Fruit Fly
(Drosophila melanogaster)
 Insecta bel 29 30
  • 58.06 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea laf-1 29 30
  • 56.33 (n)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DED1 30
  • 54 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G58570 29
  • 55.45 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7412 29
Rice
(Oryza sativa)
 Liliopsida Os07g0202100 29
  • 55.7 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.10750 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.10226 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 41 (a)
 ManyToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3988 29
Species where no ortholog for DDX3X was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DDX3X Gene

ENSEMBL:
Gene Tree for DDX3X (if available)
TreeFam:
Gene Tree for DDX3X (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDX3X: view image
Alliance of Genome Resources:
Additional Orthologs for DDX3X

Paralogs for DDX3X Gene

Paralogs for DDX3X Gene

(11) SIMAP similar genes for DDX3X Gene using alignment to 4 proteins:

  • DDX3X_HUMAN
  • B4DLA0_HUMAN
  • B4E3C4_HUMAN
  • B5BTY4_HUMAN

Pseudogenes.org Pseudogenes for DDX3X Gene

genes like me logo Genes that share paralogs with DDX3X: view

Variants for DDX3X Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX3X Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1008102 Uncertain Significance: not provided 41,345,552(+) A/G
NM_001356.5(DDX3X):c.1315+4A>G 		INTRON
1012216 Likely Pathogenic: Mental retardation, X-linked 102 41,346,544(+) G/C
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1012292 Likely Pathogenic: Mental retardation, X-linked 102 41,343,205(+) TTTC/T
NM_001356.5(DDX3X):c.544-8_544-6del 		INTRON
1012648 Likely Benign: not provided 41,346,415(+) G/A
NM_001356.5(DDX3X):c.1497+5G>A 		INTRON
1031222 Uncertain Significance: Mental retardation, X-linked 102 41,344,110(+) C/A
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DDX3X Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DDX3X Gene

Variant ID Type Subtype PubMed ID
esv33720 CNV loss 17666407

Variation tolerance for DDX3X Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX3X Gene

Human Gene Mutation Database (HGMD)
DDX3X
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX3X
Leiden Open Variation Database (LOVD)
DDX3X

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX3X Gene

Disorders for DDX3X Gene

MalaCards: The human disease database

(27) MalaCards diseases for DDX3X Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DDX3X in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDX3X_HUMAN
  • Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958]: A disorder characterized by mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty. {ECO:0000269 PubMed:26235985}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DDX3X

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DDX3X: view

No data available for Genatlas for DDX3X Gene

Publications for DDX3X Gene

  1. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. (PMID: 26235985) Snijders Blok L ā€¦ Kleefstra T (American journal of human genetics 2015) 3 4 72
  2. DEAD/H BOX 3 (DDX3) helicase binds the RIG-I adaptor IPS-1 to up-regulate IFN-beta-inducing potential. (PMID: 20127681) Oshiumi H ā€¦ Seya T (European journal of immunology 2010) 3 4 22
  3. Expression, purification, crystallization and preliminary X-ray diffraction analysis of the DDX3 RNA helicase domain. (PMID: 17401195) Rodamilans B ā€¦ Montoya G (Acta crystallographica. Section F, Structural biology and crystallization communications 2007) 3 4 22
  4. DDX3, a DEAD box RNA helicase, is deregulated in hepatitis virus-associated hepatocellular carcinoma and is involved in cell growth control. (PMID: 16301996) Chang PC ā€¦ Wu Lee YH (Oncogene 2006) 3 4 22
  5. Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function. (PMID: 15507209) Yedavalli VS ā€¦ Jeang KT (Cell 2004) 3 4 22

ExternalLinks

View latest publications for DDX3X gene in Mastermind

Products for DDX3X Gene

  • Addgene plasmids for DDX3X

Sources for DDX3X Gene