Gene: DDX3X

Alternate names for this Gene: CAP-Rf|DBX|DDX14|DDX3|HLP2|MRX102|MRXSSB

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.4

Description of this Gene: DEAD-box helicase 3 X-linked

Type of Gene: protein-coding

rs1057519430 in DDX3X gene and Dysmorphic features PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

rs1057518707 in DDX3X gene and MENTAL RETARDATION, X-LINKED 102 PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

rs1057519430 in DDX3X gene and Movement Disorders PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

rs1057519430 in DDX3X gene and Multiple congenital anomalies PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

rs1057519430 in DDX3X gene and Muscle hypotonia PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.