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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
  • 2900024F02Rik 3
  • EC 3.6.4.13 4
  • EC 3.6.1 61
  • 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. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDX41 Gene

DDX41 (DEAD-Box Helicase 41) is a Protein Coding gene. Diseases associated with DDX41 include Ddx41-Related Susceptibility To Familial Myeloproliferative/Lymphoproliferative Neoplasms and Acute Myeloblastic Leukemia With Maturation. Among its related pathways are Immune System and Cytosolic sensors of pathogen-associated DNA. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DDX23.

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

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

Genomics for DDX41 Gene

Regulatory Elements for DDX41 Gene

Enhancers for DDX41 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F177542 1.6 FANTOM5 Ensembl ENCODE 13 -28.5 -28534 6.3 PKNOX1 ARID4B SIN3A YY1 FOS PPARG SMARCA4 GLIS1 RCOR2 STAT3 DOK3 LOC105377750 DDX41 TMED9 PDLIM7 MXD3 DBN1 RAB24 GRK6 NSD1
GH05F177377 1.3 Ensembl ENCODE 10.6 +138.4 138403 2.2 HDGF ARNT MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 RGS14 MXD3 HNRNPAB GRK6 PFN3 F12 LMAN2 ZNF346 DDX41 FAF2
GH05F177552 1.1 ENCODE 12.3 -36.7 -36716 3.2 HDGF ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS SP3 JUNB DOK3 DDX41 TMED9 B4GALT7 FAM153A FAM193B GC05P177553
GH05F177599 1.1 ENCODE 11.7 -82.8 -82762 2.2 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 B4GALT7 DDX41 TMED9 ENSG00000247679
GH05F177467 1 ENCODE 11.5 +46.0 45958 7.1 HDGF PKNOX1 ARID4B SIN3A GLIS2 ZNF143 KLF7 FOS ZNF263 SP3 MXD3 DOK3 DDX41 RPL21P60 DBN1 PRR7 FGFR4 ENSG00000279821 PIR32965
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDX41 on UCSC Golden Path with GeneCards custom track

Promoters for DDX41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001297909 -131 2801 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for DDX41 Gene

Chromosome:
5
Start:
177,511,577 bp from pter
End:
177,517,469 bp from pter
Size:
5,893 bases
Orientation:
Minus strand

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 Lys 49 and Lys 538
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDX41 (DDX41)

Domains & Families for DDX41 Gene

Gene Families for DDX41 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJV9

UniProtKB/Swiss-Prot:

DDX41_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. DDX41 subfamily.
  • Contains 1 CCHC-type zinc finger.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. DDX41 subfamily.
Similarity:
  • Contains 1 CCHC-type zinc finger.
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

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 --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 1

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 IEA,IDA 25920683
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
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
Adenosine triphosphate Approved Nutra 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX41 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDX41 34 35
  • 91.21 (n)
cow
(Bos Taurus)
Mammalia DDX41 34 35
  • 90.94 (n)
rat
(Rattus norvegicus)
Mammalia Ddx41 34
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Ddx41 34 16 35
  • 89.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDX41 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 97 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
LOC100859810 34
  • 84.21 (n)
lizard
(Anolis carolinensis)
Reptilia DDX41 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx41 34
  • 75.2 (n)
Str.11810 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24533 34
zebrafish
(Danio rerio)
Actinopterygii ddx41 34
  • 72.9 (n)
CABZ01074913.1 35
  • 68 (a)
OneToOne
Dr.12223 34
fruit fly
(Drosophila melanogaster)
Insecta abs 34 35
  • 65.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004711 34
  • 61.9 (n)
worm
(Caenorhabditis elegans)
Secernentea sacy-1 34 35
  • 57.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP1 35
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51280 34
  • 61.16 (n)
rice
(Oryza sativa)
Liliopsida Os02g0150100 34
  • 64.8 (n)
Os.26998 34
barley
(Hordeum vulgare)
Liliopsida Hv.10608 34
wheat
(Triticum aestivum)
Liliopsida Ta.4791 34
corn
(Zea mays)
Liliopsida Zm.3965 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7836 34
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 Sequence Context AA Info Type
VAR_076362 Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF) [MIM:616871]
rs762890562 Pathogenic 177,515,944(+) GGGGT(-/CATC)CATCA reference, frameshift-variant
rs746693911 Likely benign 177,513,020(+) GGGGG(G/T)GTCTT reference, synonymous-codon
rs141601766 other 177,516,943(+) TCCTC(C/T)ATTCT reference, missense, utr-variant-5-prime
rs142143752 other 177,515,766(+) CTTCC(A/G)CACGC reference, missense

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)

Relevant External Links for DDX41 Gene

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

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

Disorders for DDX41 Gene

MalaCards: The human disease database

(29) MalaCards diseases for DDX41 Gene - From: ClinVar, GeneTests, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
ddx41-related susceptibility to familial myeloproliferative/lymphoproliferative neoplasms
  • myeloproliferative/lymphoproliferative neoplasms, familial , susceptibility to
acute myeloblastic leukemia with maturation
  • acute myeloid leukemia
acute myeloid leukemia, flt3-related
  • leukemia, acute myeloid
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
cardiovascular syphilis
  • syphilis, cardiovascular
- 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.

Relevant External Links for DDX41

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Curr. Biol. 1999) 2 3 4 64
  2. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. (PMID: 26712909) Lewinsohn M. … Scott H.S. (Blood 2016) 3 4 64
  3. Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. (PMID: 25920683) Polprasert C. … Maciejewski J.P. (Cancer Cell 2015) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DDX41 Gene

Sources for DDX41 Gene

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