Seroatlas · Human Serome Atlas

DDX41

Probable ATP-dependent RNA helicase DDX41

Also known as: ABS, DDX41_HUMAN, MGC8828

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

Protein identityUniProt · HPA

UniProt accession
Q9UJV9
Gene
DDX41
Ensembl
ENSG00000183258
Chromosome
5
Canonical length
622 aa
Protein class
Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli

OverviewNCBI Gene

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]

Canonical amino-acid sequenceUniProt

622 residues, UniProt reviewed canonical sequence.

>Q9UJV9|DDX41
     1  MEESEPERKR ARTDEVPAGG SRSEAEDEDD EDYVPYVPLR QRRQLLLQKL LQRRRKGAAE
    61  EEQQDSGSEP RGDEDDIPLG PQSNVSLLDQ HQHLKEKAEA RKESAKEKQL KEEEKILESV
   121  AEGRALMSVK EMAKGITYDD PIKTSWTPPR YVLSMSEERH ERVRKKYHIL VEGDGIPPPI
   181  KSFKEMKFPA AILRGLKKKG IHHPTPIQIQ GIPTILSGRD MIGIAFTGSG KTLVFTLPVI
   241  MFCLEQEKRL PFSKREGPYG LIICPSRELA RQTHGILEYY CRLLQEDSSP LLRCALCIGG
   301  MSVKEQMETI RHGVHMMVAT PGRLMDLLQK KMVSLDICRY LALDEADRMI DMGFEGDIRT
   361  IFSYFKGQRQ TLLFSATMPK KIQNFAKSAL VKPVTINVGR AGAASLDVIQ EVEYVKEEAK
   421  MVYLLECLQK TPPPVLIFAE KKADVDAIHE YLLLKGVEAV AIHGGKDQEE RTKAIEAFRE
   481  GKKDVLVATD VASKGLDFPA IQHVINYDMP EEIENYVHRI GRTGRSGNTG IATTFINKAC
   541  DESVLMDLKA LLLEAKQKVP PVLQVLHCGD ESMLDIGGER GCAFCGGLGH RITDCPKLEA
   601  MQTKQVSNIG RKDYLAHSSM DF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDX41 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 41 nTPM
  • cerebral cortex: 33 nTPM
  • choroid plexus: 31 nTPM
  • parathyroid gland: 29 nTPM
  • appendix: 27 nTPM
  • small intestine: 27 nTPM

Single-cell type

  • extravillous trophoblasts: 80 nCPM
  • esophageal suprabasal cells: 65 nCPM
  • oocytes: 60 nCPM
  • migrating cytotrophoblasts: 57 nCPM
  • esophageal apical cells: 56 nCPM
  • cytotrophoblasts: 53 nCPM

Immune cell

  • non-classical monocyte: 32 nTPM
  • classical monocyte: 31 nTPM
  • intermediate monocyte: 29 nTPM
  • myeloid DC: 27 nTPM
  • NK-cell: 26 nTPM
  • total PBMC: 26 nTPM

Brain region

  • cerebral cortex: 41 nTPM
  • hippocampal formation: 34 nTPM
  • thalamus: 30 nTPM
  • white matter: 30 nTPM
  • pons: 30 nTPM
  • basal ganglia: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDX41.

Disease | AllUniProt

Conditions DDX41 is implicated in, by any mechanism.

  • Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) MIM:616871

Disease | GeneticClinVar

121 pathogenic / likely-pathogenic of 1,393 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)
0.74
gnomAD pLI
0
gnomAD missense Z
2.28
DepMap mean gene effect
-1.39
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 DDX41 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 DDX41 as an antibody target. Whether an autoantibody or antibody against DDX41 could matter depends on whether native DDX41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DDX41 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DDX41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DDX41. 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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