DDX41 (DEAD-box helicase 41)

Gene

• Entrez ID: 51428
• Gene name: DEAD-box helicase 41
• Gene symbol: DDX41
• Synonyms: ABS, MPLPF
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141601766	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs142143752	G>A	Risk-factor	Coding sequence variant, missense variant
rs200567842	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs376093707	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs746278774	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs747072227	A>G	Risk-factor	Coding sequence variant, missense variant
rs762890562	->CATC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs774698335	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780209663	C>A	Pathogenic	Coding sequence variant, missense variant
rs869320762	CT>TG	Risk-factor	Splice acceptor variant
rs1554111073	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554111533	C>T	Pathogenic	Splice acceptor variant
rs1554111653	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554111683	->TT	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1581805747	->A	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031540	hsa-miR-16-5p	Proteomics	18668040
MIRT032281	hsa-let-7b-5p	Proteomics	18668040
MIRT041875	hsa-miR-484	CLASH	23622248
MIRT930697	hsa-miR-1270	CLIP-seq
MIRT930698	hsa-miR-151-3p	CLIP-seq
MIRT930699	hsa-miR-185	CLIP-seq
MIRT930700	hsa-miR-2110	CLIP-seq
MIRT930701	hsa-miR-3144-5p	CLIP-seq
MIRT930702	hsa-miR-3150a-3p	CLIP-seq
MIRT930703	hsa-miR-3154	CLIP-seq
MIRT930704	hsa-miR-3191	CLIP-seq
MIRT930705	hsa-miR-3199	CLIP-seq
MIRT930706	hsa-miR-34a	CLIP-seq
MIRT930707	hsa-miR-34c-5p	CLIP-seq
MIRT930708	hsa-miR-4306	CLIP-seq
MIRT930709	hsa-miR-432	CLIP-seq
MIRT930710	hsa-miR-4456	CLIP-seq
MIRT930711	hsa-miR-4463	CLIP-seq
MIRT930712	hsa-miR-4499	CLIP-seq
MIRT930713	hsa-miR-449a	CLIP-seq
MIRT930714	hsa-miR-449b	CLIP-seq
MIRT930715	hsa-miR-4531	CLIP-seq
MIRT930716	hsa-miR-4644	CLIP-seq
MIRT930717	hsa-miR-4652-5p	CLIP-seq
MIRT930718	hsa-miR-4709-3p	CLIP-seq
MIRT930719	hsa-miR-4740-5p	CLIP-seq
MIRT930720	hsa-miR-4757-5p	CLIP-seq
MIRT930721	hsa-miR-620	CLIP-seq
MIRT930722	hsa-miR-635	CLIP-seq
MIRT930723	hsa-miR-7	CLIP-seq
MIRT1975460	hsa-miR-1915	CLIP-seq
MIRT1975461	hsa-miR-1972	CLIP-seq
MIRT1975462	hsa-miR-3136-3p	CLIP-seq
MIRT1975463	hsa-miR-4663	CLIP-seq
MIRT1975464	hsa-miR-4726-3p	CLIP-seq
MIRT1975465	hsa-miR-4778-5p	CLIP-seq
MIRT2514815	hsa-miR-4514	CLIP-seq
MIRT2514816	hsa-miR-4692	CLIP-seq
MIRT2514815	hsa-miR-4514	CLIP-seq
MIRT2514816	hsa-miR-4692	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	25920683
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0003724	Function	RNA helicase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 26030138, 28514442, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	26712909
GO:0005681	Component	Spliceosomal complex	IDA	25920683
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	TAS	10607561
GO:0008283	Process	Cell population proliferation	IMP	25920683
GO:0016020	Component	Membrane	HDA	19946888
GO:0030154	Process	Cell differentiation	IMP	25920683
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 608170
• HGNC: 18674
• e!Ensembl: ENSG00000183258

Protein

• UniProt ID: Q9UJV9
• Protein name: Probable ATP-dependent RNA helicase DDX41 (EC 3.6.4.13) (DEAD box protein 41) (DEAD box protein abstrakt homolog)
• Protein function: Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and hematopoietic homeostasis (PubMed:34473945). Recognizes foreign or self-nucleic acids generated during microbi
• PDB: 2P6N, 5GVR, 5GVS, 5H1Y, 8C6J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	205 → 385	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	419 → 527	Helicase conserved C-terminal domain	Family

• Sequence:

  MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQLLLQKLLQRRRKGAAE
  EEQQDSGSEPRGDEDDIPLGPQSNVSLLDQHQHLKEKAEARKESAKEKQLKEEEKILESV
  AEGRALMSVKEMAKGITYDDPIKTSWTPPRYVLSMSEERHERVRKKYHILVEGDGIPPPI
  KSFKEMKFPAAILRGLKKKGIHHPTPIQIQGIPTILSGRDMIGIAFTGSGKTLVFTLPVI
  MFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGILEYYCRLLQEDSSPLLRCALCIGG
  MSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVSLDICRYLALDEADRMIDMGFEGDIRT
  IFSYFKGQRQTLLFSATMPKKIQNFAKSALVKPVTINVGRAGAASLDVIQEVEYVKEEAK
  MVYLLECLQKTPPPVLIFAEKKADVDAIHEYLLLKGVEAVAIHGGKDQEERTKAIEAFRE
  GKKDVLVATDVASKGLDFPAIQHVINYDMPEEIENYVHRIGRTGRSGNTGIATTFINKAC
  DESVLMDLKALLLEAKQKVPPVLQVLHCGDESMLDIGGERGCAFCGGLGHRITDCPKLEA
  MQTKQVSNIGRKDYLAHSSMDF

• Sequence length: 622

Pathways

KEGG:

Cytosolic DNA-sensing pathway

Reactome:

STING mediated induction of host immune responses
Regulation of innate immune responses to cytosolic DNA
IRF3-mediated induction of type I IFN

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Refractory anemias	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Hematologic malignancy predisposition syndrome	DDX41-related hematologic malignancy predisposition syndrome	rs762890562, rs869320762, rs141601766, rs1554111073, rs774698335, rs1554111653, rs1554111683, rs746278774
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587

Unknown
Disease name	Disease term	dbSNP ID	References
Eczema	Eczema
Erythroleukemia	Acute erythroleukemia, Acute erythroleukemia - M6a subtype, Acute erythroleukemia - M6b subtype		30926971
Leukopenia	Leukopenia
Lupus erythematosus	Lupus Erythematosus, Systemic
Monocytosis	Monocytosis
Myeloid leukemia	Myeloid Leukemia, Chronic, Acute myeloid leukemia FAB-M6		28297620, 30926971