• Gene id: 1654

Gene Summary

• Gene Symbol: DDX3X   Gene   UCSC   Ensembl
• Aliases: CAP-Rf, DBX, DDX14, DDX3, HLP2, MRX102, MRXSSB
• Gene name: DEAD-box helicase 3 X-linked
• Alternate names: ATP-dependent RNA helicase DDX3X, DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked, DEAD box protein 3, X-chromosomal, DEAD box, X isoform, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3, DEAD/H box-3, helicase-,
• Gene location: Xp11.4 (37176816: 37052625)     Exons: 34     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 300160

Protein Summary

• Protein general information: O00571  
  • Name: ATP dependent RNA helicase DDX3X (EC 3.6.4.13) (CAP Rf) (DEAD box protein 3, X chromosomal) (DEAD box, X isoform) (DBX) (Helicase like protein 2) (HLP2)
  • Length: 662  
  • Mass: 73243
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MSHVAVENALGLDQQFAGLDLNSSDNQSGGSTASKGRYIPPHLRNREATKGFYDKDSSGWSSSKDKDAYSSFGSR
  SDSRGKSSFFSDRGSGSRGRFDDRGRSDYDGIGSRGDRSGFGKFERGGNSRWCDKSDEDDWSKPLPPSERLEQEL
  FSGGNTGINFEKYDDIPVEATGNNCPPHIESFSDVEMGEIIMGNIELTRYTRPTPVQKHAIPIIKEKRDLMACAQ
  TGSGKTAAFLLPILSQIYSDGPGEALRAMKENGRYGRRKQYPISLVLAPTRELAVQIYEEARKFSYRSRVRPCVV
  YGGADIGQQIRDLERGCHLLVATPGRLVDMMERGKIGLDFCKYLVLDEADRMLDMGFEPQIRRIVEQDTMPPKGV
  RHTMMFSATFPKEIQMLARDFLDEYIFLAVGRVGSTSENITQKVVWVEESDKRSFLLDLLNATGKDSLTLVFVET
  KKGADSLEDFLYHEGYACTSIHGDRSQRDREEALHQFRSGKSPILVATAVAARGLDISNVKHVINFDLPSDIEEY
  VHRIGRTGRVGNLGLATSFFNERNINITKDLLDLLVEAKQEVPSWLENMAYEHHYKGSSRGRSKSSRFSGGFGAR
  DYRQSSGASSSSFSSSRASSSRSGGGGHGSSRGFGGGGYGGFYNSDGYGGNYNSQGVDWWGN

• Structural information:
  • Protein Domains: (211..40-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (414..57-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 2I4I 2JGN 3JRV 4O2C 4O2E 4O2F 4PX9 4PXA 5E7I 5E7J 5E7M 6CZ5 6O5F
  • PDBsum: 2I4I 2JGN 3JRV 4O2C 4O2E 4O2F 4PX9 4PXA 5E7I 5E7J 5E7M 6CZ5 6O5F
  • DIP: 27551
  • STRING: ENSP00000382840
• Other Databases: GeneCards:  DDX3X  Malacards:  DDX3X

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007276	gamete generation	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0043186	P granule	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043539	protein serine/threonine kinase activator activity	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0071470	cellular response to osmotic stress	IDA	biological process
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045727	positive regulation of translation	IDA	biological process
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0034063	stress granule assembly	IDA	biological process
GO:0031369	translation initiation factor binding	IDA	molecular function
GO:0031369	translation initiation factor binding	IDA	molecular function
GO:0031333	negative regulation of protein-containing complex assembly	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0009615	response to virus	IDA	biological process
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0034157	positive regulation of toll-like receptor 7 signaling pathway	IDA	biological process
GO:0031954	positive regulation of protein autophosphorylation	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:1902523	positive regulation of protein K63-linked ubiquitination	IDA	biological process
GO:0032728	positive regulation of interferon-beta production	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0031252	cell leading edge	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043015	gamma-tubulin binding	IDA	molecular function
GO:0071243	cellular response to arsenic-containing substance	IDA	biological process
GO:0048027	mRNA 5'-UTR binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043024	ribosomal small subunit binding	IDA	molecular function
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0022627	cytosolic small ribosomal subunit	IDA	colocalizes with
GO:0016887	ATPase activity	IDA	molecular function
GO:0010501	RNA secondary structure unwinding	IDA	biological process
GO:0008190	eukaryotic initiation factor 4E binding	IDA	molecular function
GO:0008143	poly(A) binding	IDA	molecular function
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005852	eukaryotic translation initiation factor 3 complex	IDA	colocalizes with
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0034161	positive regulation of toll-like receptor 8 signaling pathway	IDA	biological process
GO:0032727	positive regulation of interferon-alpha production	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:1900227	positive regulation of NLRP3 inflammasome complex assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IMP	cellular component
GO:0006413	translational initiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0055088	lipid homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036493	positive regulation of translation in response to endoplasmic reticulum stress	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045948	positive regulation of translational initiation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0032728	positive regulation of interferon-beta production	TAS	biological process
GO:0032728	positive regulation of interferon-beta production	TAS	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0072559	NLRP3 inflammasome complex	ISS	cellular component
GO:1901985	positive regulation of protein acetylation	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0016055	Wnt signaling pathway	IMP	biological process
GO:0045727	positive regulation of translation	IMP	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0097193	intrinsic apoptotic signaling pathway	IMP	biological process
GO:0071651	positive regulation of chemokine (C-C motif) ligand 5 production	TAS	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0017148	negative regulation of translation	IMP	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0007059	chromosome segregation	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0017111	nucleoside-triphosphatase activity	IDA	molecular function
GO:0043273	CTPase activity	IDA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045070	positive regulation of viral genome replication	IMP	biological process
GO:1903608	protein localization to cytoplasmic stress granule	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061702	inflammasome complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032728	positive regulation of interferon-beta production	IDA	biological process
GO:0033592	RNA strand annealing activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0098586	cellular response to virus	IDA	biological process
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05203	Viral carcinogenesis
hsa05161	Hepatitis B
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray