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Aliases for DDX41 Gene

Aliases for DDX41 Gene

  • DEAD-Box Helicase 41 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41 2 3
  • DEAD Box Protein Abstrakt Homolog 3 4
  • DEAD Box Protein 41 3 4
  • ABS 3 4
  • Probable ATP-Dependent RNA Helicase DDX41 3
  • DEAD-Box Protein Abstrakt 3
  • Putative RNA Helicase 3
  • EC 3.6.4.13 4
  • EC 3.6.1 56
  • MPLPF 3

External Ids for DDX41 Gene

Previous GeneCards Identifiers for DDX41 Gene

  • GC05M176869
  • GC05M176919
  • GC05M176871
  • GC05M176938
  • GC05M171859

Summaries for DDX41 Gene

Entrez Gene Summary for DDX41 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]

CIViC summary for DDX41 Gene

GeneCards Summary for DDX41 Gene

DDX41 (DEAD-Box Helicase 41) is a Protein Coding gene. Diseases associated with DDX41 include Myeloproliferative/Lymphoproliferative Neoplasms, Familial and Cardiovascular Syphilis. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DDX3Y.

UniProtKB/Swiss-Prot for DDX41 Gene

  • Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing.

Gene Wiki entry for DDX41 Gene

Additional gene information for DDX41 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX41 Gene

Genomics for DDX41 Gene

GeneHancer (GH) Regulatory Elements for DDX41 Gene

Promoters and enhancers for DDX41 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I177515 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.3 348 3 HDGF FOXA2 PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 DDX41 LOC202181 B4GALT7 HNRNPAB NSD1 DOK3 FAM153A
GH05I177552 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.3 -36.7 -36715 3.2 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF143 SP3 GC05P177553 LOC105377750 FAM193B DOK3 DDX41 TMED9 B4GALT7 FAM153A
GH05I177467 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.5 +46.0 45957 7.1 HDGF PKNOX1 ARID4B SIN3A YBX1 GLIS2 ZNF143 KLF7 FOS RUNX3 DBN1 MXD3 DOK3 DDX41 FAM193B RPL21P60 PRR7 FGFR4 ENSG00000279821 PIR32965
GH05I177599 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 -82.8 -82761 2.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF766 B4GALT7 DDX41 TMED9 ENSG00000247679
GH05I177542 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -28.5 -28534 6.3 PKNOX1 FOXA2 ARID4B SIN3A ETS1 YY1 ATF7 FOS RXRA REST DOK3 LOC105377750 DDX41 TMED9 PDLIM7 MXD3 DBN1 RAB24 GRK6 NSD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDX41 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDX41 gene promoter:

Genomic Locations for DDX41 Gene

Genomic Locations for DDX41 Gene
chr5:177,511,577-177,517,469
(GRCh38/hg38)
Size:
5,893 bases
Orientation:
Minus strand
chr5:176,938,578-176,944,470
(GRCh37/hg19)

Genomic View for DDX41 Gene

Genes around DDX41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX41 Gene

Proteins for DDX41 Gene

  • Protein details for DDX41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJV9-DDX41_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX41
    Protein Accession:
    Q9UJV9
    Secondary Accessions:
    • B2RDC8
    • Q96BK6
    • Q96K05
    • Q9NT96
    • Q9NW04

    Protein attributes for DDX41 Gene

    Size:
    622 amino acids
    Molecular mass:
    69838 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.
    SequenceCaution:
    • Sequence=CAE46035.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDX41 Gene

neXtProt entry for DDX41 Gene

Selected DME Specific Peptides for DDX41 Gene

Q9UJV9:
  • KIQNFAKSALVKP
  • SGRDMIGIA
  • TPGRLMD
  • KDVLVATDVASKGLD
  • GNTGIAT
  • NYVHRIGR
  • HRIGRTGR
  • DEADRMID
  • VINYDMP
  • LLLKGVEAVAIHGGKD
  • YLLECLQKTPPPVL
  • RQTLLFSAT
  • VATPGRL
  • IHGGKDQ
  • LFSATMP

Post-translational modifications for DDX41 Gene

  • Ubiquitination at Lys49 and Lys538
  • Modification sites at PhosphoSitePlus

Domains & Families for DDX41 Gene

Gene Families for DDX41 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9UJV9

UniProtKB/Swiss-Prot:

DDX41_HUMAN :
  • Belongs to the DEAD box helicase family. DDX41 subfamily.
Family:
  • Belongs to the DEAD box helicase family. DDX41 subfamily.
genes like me logo Genes that share domains with DDX41: view

Function for DDX41 Gene

Molecular function for DDX41 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing.

Enzyme Numbers (IUBMB) for DDX41 Gene

Phenotypes From GWAS Catalog for DDX41 Gene

Gene Ontology (GO) - Molecular Function for DDX41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DDX41: view
genes like me logo Genes that share phenotypes with DDX41: view

Animal Models for DDX41 Gene

MGI Knock Outs for DDX41:

Animal Model Products

  • Taconic Biosciences Mouse Models for DDX41

miRNA for DDX41 Gene

miRTarBase miRNAs that target DDX41

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDX41 Gene

Localization for DDX41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX41 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX41 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 3
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
lysosome 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDX41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 26712909
GO:0005681 colocalizes_with spliceosomal complex IDA,IEA 25920683
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with DDX41: view

Pathways & Interactions for DDX41 Gene

genes like me logo Genes that share pathways with DDX41: view

Gene Ontology (GO) - Biological Process for DDX41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IMP 25920683
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process TAS 10607561
GO:0008283 cell proliferation IMP 25920683
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with DDX41: view

No data available for SIGNOR curated interactions for DDX41 Gene

Drugs & Compounds for DDX41 Gene

(3) Drugs for DDX41 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(2) Additional Compounds for DDX41 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DDX41: view

Transcripts for DDX41 Gene

Unigene Clusters for DDX41 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 41:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX41 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b · 10c ·
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - -
SP6:
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - -
SP13: - - - - - - - - - - - - - - - - - -
SP14: - - - -
SP15: - - - - - - - - - - - -
SP16: - - - - - - - - - -
SP17:
SP18:
SP19: - -
SP20: - - -
SP21: - - - -
SP22: - - - - - - -
SP23: -
SP24: -
SP25:

ExUns: 10d ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - - -
SP14:
SP15:
SP16:
SP17: - - -
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25: -

Relevant External Links for DDX41 Gene

GeneLoc Exon Structure for
DDX41
ECgene alternative splicing isoforms for
DDX41

Expression for DDX41 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDX41 Gene

Protein differential expression in normal tissues from HIPED for DDX41 Gene

This gene is overexpressed in Lung (33.6), Bone (12.6), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDX41 Gene



Protein tissue co-expression partners for DDX41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDX41 Gene:

DDX41

SOURCE GeneReport for Unigene cluster for DDX41 Gene:

Hs.484288

Evidence on tissue expression from TISSUES for DDX41 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Skin(4.6)
  • Intestine(4)
  • Lung(4)
  • Blood(3.9)
  • Kidney(3.8)
  • Spleen(3.8)
  • Stomach(3.6)
  • Lymph node(3.3)
  • Bone marrow(3.1)
  • Thyroid gland(2.8)
  • Muscle(2.7)
  • Heart(2.6)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with DDX41: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX41 Gene

Orthologs for DDX41 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX41 33 34
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX41 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDX41 33 34
  • 91.21 (n)
cow
(Bos Taurus)
Mammalia DDX41 33 34
  • 90.94 (n)
rat
(Rattus norvegicus)
Mammalia Ddx41 33
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Ddx41 33 16 34
  • 89.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDX41 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 97 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
LOC100859810 33
  • 84.21 (n)
lizard
(Anolis carolinensis)
Reptilia DDX41 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx41 33
  • 75.2 (n)
Str.11810 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24533 33
zebrafish
(Danio rerio)
Actinopterygii ddx41 33
  • 72.9 (n)
CABZ01074913.1 34
  • 68 (a)
OneToOne
Dr.12223 33
fruit fly
(Drosophila melanogaster)
Insecta abs 33 34
  • 65.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004711 33
  • 61.9 (n)
worm
(Caenorhabditis elegans)
Secernentea sacy-1 33 34
  • 57.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP1 34
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51280 33
  • 61.16 (n)
rice
(Oryza sativa)
Liliopsida Os02g0150100 33
  • 64.8 (n)
Os.26998 33
barley
(Hordeum vulgare)
Liliopsida Hv.10608 33
wheat
(Triticum aestivum)
Liliopsida Ta.4791 33
corn
(Zea mays)
Liliopsida Zm.3965 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7836 33
Species where no ortholog for DDX41 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DDX41 Gene

ENSEMBL:
Gene Tree for DDX41 (if available)
TreeFam:
Gene Tree for DDX41 (if available)

Paralogs for DDX41 Gene

Paralogs for DDX41 Gene

genes like me logo Genes that share paralogs with DDX41: view

Variants for DDX41 Gene

Sequence variations from dbSNP and Humsavar for DDX41 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs141601766 pathogenic, risk-factor, uncertain-significance, Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, not specified 177,516,943(-) C/T 5_prime_UTR_variant, initiator_codon_variant, missense_variant
rs142143752 risk-factor, Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] 177,515,766(-) G/A coding_sequence_variant, missense_variant
rs376093707 pathogenic, Acute myeloid leukemia, Myelodysplasia 177,515,002(-) G/A/T coding_sequence_variant, missense_variant
rs747072227 risk-factor, Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871] 177,513,396(-) A/G coding_sequence_variant, missense_variant
rs762890562 pathogenic, risk-factor, Acute myeloid leukemia, Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 177,515,945(-) CATC/CATCCATC coding_sequence_variant, inframe_indel, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for DDX41 Gene

Variant ID Type Subtype PubMed ID
esv1002656 CNV deletion 20482838
nsv1161311 CNV duplication 26073780
nsv5147 CNV deletion 18451855

Variation tolerance for DDX41 Gene

Residual Variation Intolerance Score: 3.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX41 Gene

Human Gene Mutation Database (HGMD)
DDX41
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX41

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX41 Gene

Disorders for DDX41 Gene

MalaCards: The human disease database

(31) MalaCards diseases for DDX41 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myeloproliferative/lymphoproliferative neoplasms, familial
  • myeloproliferative/lymphoproliferative neoplasms, familial , susceptibility to
cardiovascular syphilis
  • syphilis, cardiovascular
late congenital syphilis
  • juvenile neurosyphilis
focal chorioretinitis
tertiary syphilis
  • late syphilis
- elite association - COSMIC cancer census association via MalaCards
Search DDX41 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDX41_HUMAN
  • Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871]: A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269 PubMed:25920683, ECO:0000269 PubMed:26712909}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for DDX41

genes like me logo Genes that share disorders with DDX41: view

No data available for Genatlas for DDX41 Gene

Publications for DDX41 Gene

  1. Developmental and cell biological functions of the Drosophila DEAD-box protein abstrakt. (PMID: 10607561) Irion U … Leptin M (Current biology : CB 1999) 2 3 4 58
  2. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. (PMID: 26712909) Lewinsohn M … Scott HS (Blood 2016) 3 4 58
  3. Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. (PMID: 25920683) Polprasert C … Maciejewski JP (Cancer cell 2015) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DDX41 Gene

Sources for DDX41 Gene

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