DDX3X Gene (Protein Coding)

DEAD-Box Helicase 3 X-Linked

GC0XP041333
GIFtS:
49
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
  • 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
  • DEAD Box, X Isoform 3 4
  • DDX3 3 4
  • HLP2 3 4
  • DBX 3 4
  • DEAD/H Box-3 3
  • EC 3.6.4.13 4
  • EC 3.6.1 54
  • CAP-Rf 3
  • MRX102 3
  • DDX14 3

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 Mental Retardation, X-Linked 102 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.

UniProtKB/Swiss-Prot Summary for DDX3X Gene

  • Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5'UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5'proximal stem-loop structure in their 5'UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5'UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Is an allosteric activator of CSNK1E, it stimulates CSNK1E-mediated phosphorylation of DVL2 and is involved in the positive regulation of canonical Wnt signaling (PubMed:23413191).
  • (Microbial infection) Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs.

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 for DDX3X Gene

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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DDX3X Gene
chrX:41,333,284-41,364,472
(GRCh38/hg38)
Size:
31,189 bases
Orientation:
Plus strand
chrX:41,192,651-41,223,725
(GRCh37/hg19)
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. Antibody
  2. Protein
  3. Assay

  • 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:
    • Binds RNA as a monomer at low DDX3X concentrations and as a dimer at high DDX3X concentrations (PubMed:27546789). Interacts with XPO1, TDRD3, PABPC1, NXF1, EIF3C, MAVS, DDX58 and NCAPH (PubMed:15507209, PubMed:18632687, PubMed:18596238, PubMed:20127681, PubMed:21170385, PubMed:21730191, PubMed:21883093, PubMed:22323517, PubMed:22872150). Interacts with DDX5; the interaction is regulated by the phosphorylation status of both proteins (PubMed:22034099). Interacts with EIF4E; DDX3X competes with EIF4G1/EIF4G3 for interaction with EIF4E (PubMed:17667941, PubMed:21883093). Interacts with IKBKE; the interaction is direct, found to be induced upon virus infection (PubMed:20375222, PubMed:20657822, PubMed:23478265). Interacts (when phosphorylated at Ser-102) with IRF3; the interaction allows the phosphorylation and activation of IRF3 by IKBKE (PubMed:23478265). Interacts with TBK1 (PubMed:20375222). Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex (PubMed:18628297). Associates with the 40S ribosome (PubMed:22323517). Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1 (PubMed:19029303). Interacts with SP1 (PubMed:16818630). Interacts with GSK3A, GSK3B and TNFRSF10B (PubMed:18846110). Interacts with XPO1 (PubMed:15507209). Interacts with CSNK1E; the interaction enhances CSNK1E recruitement to DVL2 (PubMed:23413191). Interacts with DHX33; the interaction is independent of RNA (PubMed:26100019).
    • (Microbial infection) Interacts with HCV core protein.
    • (Microbial infection) Interacts with vaccinia virus (VACV) protein K7.
    • (Microbial infection) Interacts with HIV-1 Rev.
    • (Microbial infection) Interacts with Venezuelan equine encephalitis virus non-structural protein 3.

    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 to synergize with TBK1 in IFNB induction. Phosphorylated by IKBKE at Ser-102 after ssRNA viral infection; enhances the induction of INFB promoter by IRF3. The cytoplasmic form is highly phosphorylated in the G1/S phase and much lower phosphorylated in G2/M.
  • Ubiquitination at Lys55 and Lys554
  • Modification sites at PhosphoSitePlus

Other Protein References for DDX3X Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • 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
  • Transporters

Protein Domains for DDX3X Gene

Blocks:
InterPro:
ProtoNet:

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 :
  • Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DDX3X Gene

UniProtKB/Swiss-Prot Function:
Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5'UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5'proximal stem-loop structure in their 5'UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5'UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Is an allosteric activator of CSNK1E, it stimulates CSNK1E-mediated phosphorylation of DVL2 and is involved in the positive regulation of canonical Wnt signaling (PubMed:23413191).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs.
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;.
UniProtKB/Swiss-Prot Induction:
Regulated by the cell cycle. Maximally expressed din the cytoplasm uring G1/S phase and decreased expression during G2/M phase.

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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 21589879
GO:0003678 DNA helicase activity IDA 21589879
GO:0003723 RNA binding IEA,IDA 21589879
GO:0003724 RNA helicase activity 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 Model Products

CRISPR Products

miRNA for DDX3X Gene

miRTarBase miRNAs that target DDX3X

Clone Products

  • Addgene plasmids 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

Nucleus speckle. Cytoplasm. Mitochondrion outer membrane. Note=Located predominantly in nuclear speckles and, at low levels, throughout the cytoplasm. Located to the outer side of nuclear pore complexes (NPC). Shuttles between the nucleus and the cytoplasm in a XPO1 and may be also in a NFX1-dependent manner. Associated with polyadenylated mRNAs in the cytoplasm and the nucleus. Predominantly located in nucleus during G(0) phase and in the cytoplasm during G1/S phase.

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
mitochondrion 5
nucleus 5
extracellular 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (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 IDA 10074132
GO:0005737 cytoplasm IMP 10074132
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
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

(3) Drugs for DDX3X Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with DDX3X: view

Transcripts for DDX3X Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DDX3X Gene

(5) REFSEQ mRNAs :
(30) Additional mRNA sequences :
(564) Selected AceView cDNA sequences:
(69) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
DDX3X

Expression for DDX3X Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of DDX3X Gene:

DDX3X

SOURCE GeneReport for Unigene cluster for DDX3X Gene:

Hs.743263

Evidence on tissue expression from TISSUES for DDX3X Gene

  • Nervous system(5)
  • Liver(4.6)
  • Skin(4.4)
  • Lung(3.1)
  • Intestine(2.8)
  • Lymph node(2.2)
  • Blood(2.1)
  • Bone marrow(2.1)
  • Eye(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

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 -- 33
  • 96 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia D1Pas1 33
  • 95 (a)
 OneToMany
Ddx3x 17 33 32
  • 92.28 (n)
dog
(Canis familiaris)
 Mammalia DDX3X 33 32
  • 94.65 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DDX3X 33 32
  • 93.64 (n)
 OneToOne
chicken
(Gallus gallus)
 Aves DDX3X 33 32
  • 81.76 (n)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 82 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ddx3x 32
  • 77.81 (n)
zebrafish
(Danio rerio)
 Actinopterygii pl10 33
  • 76 (a)
 ManyToMany
ddx3 33
  • 73 (a)
 ManyToMany
-- 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10835 32
fruit fly
(Drosophila melanogaster)
 Insecta bel 33 32
  • 58.06 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea laf-1 33 32
  • 56.33 (n)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DED1 33
  • 54 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT3G58570 32
  • 55.45 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7412 32
rice
(Oryza sativa)
 Liliopsida Os07g0202100 32
  • 55.7 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.10750 32
wheat
(Triticum aestivum)
 Liliopsida Ta.10226 32
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 41 (a)
 ManyToMany
Cin.3988 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3988 32
Species where no ortholog for DDX3X was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DDX3X Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057518707 likely-pathogenic, Mental retardation, X-linked 102, Mental retardation, X-linked 102 (MRX102) [MIM:300958] 41,345,206(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057519430 pathogenic, Mental retardation, X-linked 102, Inborn genetic diseases, Mental retardation, X-linked 102 (MRX102) [MIM:300958] 41,346,946(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057519431 pathogenic, Mental retardation, X-linked 102 41,341,522(+) AAA/AAAA 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1057519446 pathogenic, Mental retardation, X-linked 102 41,342,572(+) G/A/C/T 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057523822 likely-pathogenic, uncertain-significance, not provided, Inborn genetic diseases 41,345,459(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDX3X Gene

MalaCards: The human disease database

(10) MalaCards diseases for DDX3X Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 102
  • mrx102
corpus callosum, agenesis of, with facial anomalies and robin sequence
  • toriello-carey syndrome
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
venezuelan equine encephalitis
  • venezuelan equine fever
lymphocytic choriomeningitis
  • lcm
- 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
  • Mental retardation, X-linked 102 (MRX102) [MIM:300958]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX102 features include 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 mutations affecting the gene represented in this entry.

Additional Disease Information for DDX3X

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DDX3X: view

No data available for Genatlas for DDX3X Gene

Publications for DDX3X Gene

  1. DEAD/H BOX 3 (DDX3) helicase binds the RIG-I adaptor IPS-1 to up-regulate IFN-beta-inducing potential. (PMID: 20127681) Oshiumi H … Seya T (European journal of immunology 2010) 3 4 23 56
  2. Expression, purification, crystallization and preliminary X-ray diffraction analysis of the DDX3 RNA helicase domain. (PMID: 17401195) Rodamilans B … Montoya G (Acta crystallographica. Section F, Structural biology and crystallization communications 2007) 3 4 23 56
  3. 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 … Wu Lee YH (Oncogene 2006) 3 4 23 56
  4. Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function. (PMID: 15507209) Yedavalli VS … Jeang KT (Cell 2004) 3 4 23 56
  5. Hepatitis C virus core protein interacts with a human DEAD box protein DDX3. (PMID: 10329544) Owsianka AM … Patel AH (Virology 1999) 3 4 23 56

ExternalLinks

View latest publications for DDX3X gene in Mastermind

Products for DDX3X Gene

  • Addgene plasmids for DDX3X