DDX3X - DEAD-box helicase 3 X-linked Gene

Homo sapiens

Also known as DBX; DDX3; HLP2; DDX14; CAP-Rf; MRX102; MRXSSB

Gene ID: 1654 | Gene type: protein coding

About DDX3X

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,333,308-41,364,472 (from NCBI)

This gene has 69 transcripts (splice variants), 283 orthologues, 38 paralogues and is associated with 84 phenotypes. Ubiquitous expression in bone marrow (RPKM 90.6), gall bladder (RPKM 60.1) and 25 other tissues.

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. [provided by RefSeq, Oct 2014]

DDX3X Products(4)

mRNA	Protein	Name
NM_001193416.3	NP_001180345.1	ATP-dependent RNA helicase DDX3X isoform 2
NM_001193417.3	NP_001180346.1	ATP-dependent RNA helicase DDX3X isoform 3
NM_001356.5	NP_001347.3	ATP-dependent RNA helicase DDX3X isoform 1
NM_001363819.1	NP_001350748.1	ATP-dependent RNA helicase DDX3X isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	10074132	GOA
enables CTPase activity	IDA IDA: Inferred from direct assay	10074132	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	21589879	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	21589879	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	10074132	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	21589879	GOA
enables RNA helicase activity	IDA IDA: Inferred from direct assay	21589879	GOA
enables RNA stem-loop binding	IDA IDA: Inferred from direct assay	22872150	GOA
enables RNA strand annealing activity	IDA IDA: Inferred from direct assay	27546789	GOA
enables eukaryotic initiation factor 4E binding	IDA IDA: Inferred from direct assay	17667941	GOA
enables gamma-tubulin binding	IDA IDA: Inferred from direct assay	28842590	GOA
enables mRNA 5'-UTR binding	IDA IDA: Inferred from direct assay	22872150	GOA
enables mRNA binding	IDA IDA: Inferred from direct assay	29062139	GOA
enables poly(A) binding	IDA IDA: Inferred from direct assay	18596238	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10074132	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: Inferred from direct assay	23413191	GOA
enables ribonucleoside triphosphate phosphatase activity	IDA IDA: Inferred from direct assay	10074132	GOA
enables ribosomal small subunit binding	IDA IDA: Inferred from direct assay	22323517	GOA
enables signaling adaptor activity	IDA IDA: Inferred from direct assay	23478265	GOA
enables transcription factor binding	IDA IDA: Inferred from direct assay	16818630	GOA
enables translation initiation factor binding	IDA IDA: Inferred from direct assay	22323517	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RNA secondary structure unwinding	IDA IDA: Inferred from direct assay	22872150	GOA
involved in Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	26235985	GOA
involved in cellular response to arsenic-containing substance	IDA IDA: Inferred from direct assay	21883093	GOA
involved in cellular response to osmotic stress	IDA IDA: Inferred from direct assay	21883093	GOA
involved in cellular response to virus	IDA IDA: Inferred from direct assay	31575075	GOA
involved in chromosome segregation	IMP IMP: Inferred from mutant phenotype	21730191	GOA
involved in cytosolic ribosome assembly	IMP IMP: Inferred from mutant phenotype	22323517	GOA
involved in extrinsic apoptotic signaling pathway via death domain receptors	IMP IMP: Inferred from mutant phenotype	18846110	GOA
involved in innate immune response	IMP IMP: Inferred from mutant phenotype	18583960	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	18636090	GOA
involved in intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	16301996	GOA
involved in lipid homeostasis	IMP IMP: Inferred from mutant phenotype	28128295	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	18846110	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	16818630	GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	18846110	GOA
involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP IMP: Inferred from mutant phenotype	18846110	GOA
involved in negative regulation of intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	21883093	GOA
involved in negative regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	27736973	GOA
involved in negative regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	17667941	GOA
involved in negative regulation of translation	IMP IMP: Inferred from mutant phenotype	17667941	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	20837705	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	16301996	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	23413191	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	18628297	GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	16301996	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	10074132	GOA
involved in positive regulation of interferon-alpha production	IDA IDA: Inferred from direct assay	30341167	GOA
involved in positive regulation of interferon-beta production	IDA IDA: Inferred from direct assay	27980081	GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	30341167	GOA
involved in positive regulation of protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	27980081	GOA
involved in positive regulation of protein acetylation	IMP IMP: Inferred from mutant phenotype	28128295	GOA
involved in positive regulation of protein autophosphorylation	IDA IDA: Inferred from direct assay	30341167	GOA
involved in positive regulation of protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	23413191	GOA
involved in positive regulation of toll-like receptor 7 signaling pathway	IDA IDA: Inferred from direct assay	30341167	GOA
involved in positive regulation of toll-like receptor 8 signaling pathway	IDA IDA: Inferred from direct assay	30341167	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16818630	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18583960	GOA
involved in positive regulation of translation	IDA IDA: Inferred from direct assay	18596238	GOA
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	28842590	GOA
involved in positive regulation of translation in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	29062139	GOA
involved in positive regulation of translational initiation	IMP IMP: Inferred from mutant phenotype	20837705	GOA
involved in positive regulation of type I interferon production	IDA IDA: Inferred from direct assay	23478265	GOA
involved in positive regulation of viral genome replication	IMP IMP: Inferred from mutant phenotype	20862261	GOA
involved in protein localization to cytoplasmic stress granule	IMP IMP: Inferred from mutant phenotype	24965446	GOA
involved in response to virus	IDA IDA: Inferred from direct assay	18636090	GOA
involved in stress granule assembly	IDA IDA: Inferred from direct assay	21883093	GOA
involved in translational initiation	IMP IMP: Inferred from mutant phenotype	26100019	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell leading edge	IDA IDA: Inferred from direct assay	28733330	GOA
located in centrosome	IDA IDA: Inferred from direct assay	28842590	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	18636090	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10329544	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	10074132	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	18596238	GOA
part of cytosolic small ribosomal subunit	IDA IDA: Inferred from direct assay	18596238	GOA
part of eukaryotic translation initiation factor 3 complex	IDA IDA: Inferred from direct assay	18628297	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10074132	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	29899501	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDX3X Protein Structure

DEAD

Helicase_C

0
200
400
600
662 a.a.

Protein Preferred Names

Protein Names

ATP-dependent RNA helicase DDX3X

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type

MRXSSB	Mental Retardation, X-Linked 102, Formerly
Mrx102, Formerly	Intellectual Developmental Disorder, X-Linked Syndromic, Snijders Blok Type
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Mrx102

Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence

Toriello-Carey Syndrome	Corpus Callosum Agenesis-Blepharophimosis-Robin Sequence Syndrome
Agenesis Of Corpus Callosum With Facial Anomalies And Robin Sequence	Corpus Callosum Agenesis Facial Anomalies Robin Sequence

Rare Genetic Intellectual Disability

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All	Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
Precursor T-Cell Acute Lymphocytic Leukemia	Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Adult T-Cell Lymphoma/Leukemia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Venezuelan Equine Encephalitis

Venezuelan Equine Fever	Venezuelan Equine Encephalomyelitis
Encephalitis Venezuelan Equine	Encephalomyelitis, Venezuelan Equine
Venezuelan Encephalitis	Disorder Due To Venezuelan Equine Encephalitis Virus
Venezuelan Equine Encephalitis Virus Infection	Venezuelan Equine Encephalomyelitis Virus Disease

Encephalitis

Mumps Encephalitis	Mumps Meningoencephalitis
Herpes Simplex Neuroinvasion	Herpetic Encephalitis
Herpetic Encephalopathy	Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis
Encephalitis Due To Herpesviridae	Encephalitis Due To Herpesvirus
Herpes Encephalitis	Herpesviral Encephalitis
Herpes Simplex Encephalitis	Hsv - [Herpes Simplex Virus] Encephalitis
Herpes Virus Encephalitis	Simian B Disease
Simian B Disorder	Encephalitis Nec
Idiopathic Encephalitis

Hepatitis C

Chronic Hepatitis C	Hepatitis C Infection
Hepatitis Nona Nonb	Nanbh
Viral Hepatitis C	Hepatitis C Chronic
Hepatitis C, Chronic	Chronic Type C Viral Hepatitis
Chronic Hcv - [Hepatitis C Virus] Infection	Hepatitis C Nos
Hepatitis C Infection Nos	Hepatitis C-Related Cirrhosis
Type C Viral Hepatitis	Hep C Nos

Hepatitis

Chronic Hepatitis	Chronic Persistent Hepatitis
Acute Hepatitis	Hepatitis, Chronic
Acute And Subacute Liver Necrosis	Acute/Subac. Necrosis Of Liver
Animal Hepatitis	Hepatitis Chronic
Hepatitis A	Hepatitis, Animal
Hepatitis Due To Toxoplasmosis	Hepatitis In Toxoplasmosis
Toxoplasmal Hepatitis	Chronic Hepatitis, Unspecified
Chronic Active Hepatitis Nec	Other Specified Chronic Hepatitis
Chronic Persistent Hepatitis Nec	Chronic Lobular Hepatitis Nec

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To	Hepatitis C Virus Infection, Response To Therapy Of
Hcv	Hcv, Susceptibility To
Hepatitis C Virus, Resistance To	Hepatitis C Virus, Response To Therapy Of
Resistance To Hepatitis C Virus

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Hepatitis B

Chronic Hepatitis B	Hepatitis B Infection
Serum Hepatitis	HBV
Hepatitis B Chronic	Hbv, Susceptibility To
Hepatitis B, Chronic	Chronic Hepatitis B Without Delta Agent
Chronic Hbv - [Hepatitis B Virus] Infection	Hepatitis B Nos
Chronic Type B Viral Hepatitis	Hep B Nos

Immunodeficiency 27a

IMD27A	Autosomal Recessive Ifngr1 Deficiency
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis	Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency	Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency
Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency	Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive
Ifngr1 Deficiency, Autosomal Recessive	Immunodeficiency 27a, Mycobacteriosis, Ar
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency	Msmd Due To Complete Ifngammar1 Deficiency
Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency	Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency
Familial Disseminated Atypical Mycobacterial Infection	Interferon Gamma, Receptor 1, Deficiency
Immunodeficiency, Type 27a, Mycobacteriosis, Ar	Mycobacterial Disease, Mendelian Susceptibility To

Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood

Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood
Systemic Ebv-Positive T-Cell Lymphoma Of Childhood	Systemic Ebv+ T-Cell Lymphoma Of Childhood

Endocervical Adenocarcinoma

Endocervical Carcinoma

Lymphocytic Choriomeningitis

Lcm	Lymphocytic Meningitis
Lymphocytic Choriomeningitis Virus Encephalomyelitis	Lymphocytic Meningoencephalitis
Non-Arthropod Borne Lymphocytic Choriomeningitis	Lcm - [Lymphocytic Choriomeningitis]
Benign Lymphocytic Meningitis	Meningitis Due To Lymphocytic Choriomeningitis Virus

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Aggressive Nk-Cell Leukemia

Aggressive Nk-Cell Leukaemia	Large Granular Lymphocyte Leukemia, Nk-Cell Type
Natural Killer Cell Leukaemia	Natural Killer Cell Leukemia
Aggressive Nk Cell Leukemia	Ankl
Aggressive Natural Killer Cell Leukemia	Ankcl
Aggressive Nk-Cell Lymphoma	Nk-Cell Lgl Leukemia
Nk-Cell Large Granular Lymphocyte Leukemia	Abnormality Of The Ankles
Aggressive Natural Killer-Cell Leukemia	Leukemia, Large Granular Lymphocytic
Leukemia, Natural Killer Cell Large Granular Lymphocytic

Adult Medulloblastoma

Adult Brain Medulloblastoma

Medulloblastoma, Adult

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation	Severe Neonatal-Onset Encephalopathy With Microcephaly
Encephalopathy, Neonatal Severe	Neonatal Severe Encephalopathy Due To Mecp2 Mutations
Mecp2-Related Severe Neonatal Encephalopathy	Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
Severe Neonatal Encephalopathy Due To Mecp2 Mutations	ENS-MECP2
Encephalopathy, Neonatal, Severe

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Childhood Medulloblastoma

Medulloblastoma, Childhood	Pediatric Medulloblastoma
Medulloblastoma Childhood

High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit

Hgbl-Dh/Th	High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements
High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Infratentorial Cancer

Infratentorial Neoplasms	Brain Neoplasm, Infratentorial
Malignant Infratentorial Tumors

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03646	DDX3X Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DDX3X	RGD	RGD:1564771
Canis familiaris	DDX3X	VGNC	VGNC:54664
Mus musculus	DDX3X	MGD	MGI:103064
Bos taurus	DDX3X	VGNC	VGNC:56526

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