Seroatlas · Human Serome Atlas

DDX3X

ATP-dependent RNA helicase DDX3X

Also known as: CAP-Rf, DBX, DDX14, DDX3, DDX3X_HUMAN, HLP2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O00571
Gene
DDX3X
Ensembl
ENSG00000215301
Chromosome
X
Canonical length
662 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Cytosol
Quaternary structure
Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

662 residues, UniProt reviewed canonical sequence.

>O00571|DDX3X
     1  MSHVAVENAL GLDQQFAGLD LNSSDNQSGG STASKGRYIP PHLRNREATK GFYDKDSSGW
    61  SSSKDKDAYS SFGSRSDSRG KSSFFSDRGS GSRGRFDDRG RSDYDGIGSR GDRSGFGKFE
   121  RGGNSRWCDK SDEDDWSKPL PPSERLEQEL FSGGNTGINF EKYDDIPVEA TGNNCPPHIE
   181  SFSDVEMGEI IMGNIELTRY TRPTPVQKHA IPIIKEKRDL MACAQTGSGK TAAFLLPILS
   241  QIYSDGPGEA LRAMKENGRY GRRKQYPISL VLAPTRELAV QIYEEARKFS YRSRVRPCVV
   301  YGGADIGQQI RDLERGCHLL VATPGRLVDM MERGKIGLDF CKYLVLDEAD RMLDMGFEPQ
   361  IRRIVEQDTM PPKGVRHTMM FSATFPKEIQ MLARDFLDEY IFLAVGRVGS TSENITQKVV
   421  WVEESDKRSF LLDLLNATGK DSLTLVFVET KKGADSLEDF LYHEGYACTS IHGDRSQRDR
   481  EEALHQFRSG KSPILVATAV AARGLDISNV KHVINFDLPS DIEEYVHRIG RTGRVGNLGL
   541  ATSFFNERNI NITKDLLDLL VEAKQEVPSW LENMAYEHHY KGSSRGRSKS SRFSGGFGAR
   601  DYRQSSGASS SSFSSSRASS SRSGGGGHGS SRGFGGGGYG GFYNSDGYGG NYNSQGVDWW
   661  GN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDX3X can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
158 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 158 nTPM
  • adipose tissue: 154 nTPM
  • urinary bladder: 143 nTPM
  • bone marrow: 138 nTPM
  • smooth muscle: 136 nTPM
  • parathyroid gland: 125 nTPM

Single-cell type

  • late spermatids: 1,605 nCPM
  • neutrophils: 1,079 nCPM
  • innate lymphoid cells: 556 nCPM
  • mast cells: 476 nCPM
  • monocytes: 475 nCPM
  • ocular epithelial cells: 455 nCPM

Immune cell

  • neutrophil: 54 nTPM
  • basophil: 51 nTPM
  • non-classical monocyte: 40 nTPM
  • classical monocyte: 39 nTPM
  • total PBMC: 38 nTPM
  • intermediate monocyte: 35 nTPM

Brain region

  • choroid plexus: 89 nTPM
  • hypothalamus: 82 nTPM
  • pons: 78 nTPM
  • medulla oblongata: 78 nTPM
  • white matter: 76 nTPM
  • spinal cord: 74 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDX3X.

Disease | AllUniProt

Conditions DDX3X is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) MIM:300958

Disease | GeneticClinVar

368 pathogenic / likely-pathogenic of 1,129 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.12
gnomAD pLI
1
gnomAD missense Z
4.33
DepMap mean gene effect
-0.87
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DDX3X in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DDX3X as an antibody target. Whether an autoantibody or antibody against DDX3X could matter depends on whether native DDX3X is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DDX3X is annotated at the cell surface, where native DDX3X is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DDX3X as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DDX3X. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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