DDX41
entrez
51428
canonical
uniprot
Q9UJV9
canonical
ensembl
ENSG00000183258
resolver
ensp
ENSP00000330349
resolver
enst
ENST00000330503
resolver
genesymbol
DDX41
resolver
genesymbol_syn
ABS
resolver
hgnc
HGNC:18674
resolver
uniprot
B2RDC8
resolver
uniprot
B3KRK2
resolver
uniprot
Q96BK6
resolver
uniprot
Q96K05
resolver
uniprot
Q9NT96
resolver
uniprot
Q9NW04
resolver
uniprot_entry
B3KRK2_HUMAN
resolver
uniprot_entry
DDX41_HUMAN
resolver
uniprot_sec
B2RDC8
resolver
uniprot_sec
Q96BK6
resolver
uniprot_sec
Q96K05
resolver
uniprot_sec
Q9NT96
resolver
uniprot_sec
Q9NW04
resolver
amino_acid_sequence
MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQLLLQKLLQRRRKGAAEEEQQDSGSEPRGDEDDIPLGPQSNVSLLDQHQHLKEKAEARKESAKEKQLKEEEKILESVAEGRALMSVKEMAKGITYDDPIKTSWTPPRYVLSMSEERHERVRKKYHILVEGDGIPPPIKSFKEMKFPAAILRGLKKKGIHHPTPIQIQGIPTILSGRDMIGIAFTGSGKTLVFTLPVIMFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGILEYYCRLLQEDSSPLLRCALCIGGMSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVSLDICRYLALDEADRMIDMGFEGDIRTIFSYFKGQRQTLLFSATMPKKIQNFAKSALVKPVTINVGRAGAASLDVIQEVEYVKEEAKMVYLLECLQKTPPPVLIFAEKKADVDAIHEYLLLKGVEAVAIHGGKDQEERTKAIEAFREGKKDVLVATDVASKGLDFPAIQHVINYDMPEEIENYVHRIGRTGRSGNTGIATTFINKACDESVLMDLKALLLEAKQKVPPVLQVLHCGDESMLDIGGERGCAFCGGLGHRITDCPKLEAMQTKQVSNIGRKDYLAHSSMDF
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:35613581}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
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 microbial infection, thereby initiating anti-pathogen responses (PubMed:23222971). Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1 (PubMed:25704810). Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity (PubMed:35613581). In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses (PubMed:35613581). Selectively modulates the transcription of certain immunity-associated genes by regulating their alternative splicing (PubMed:33650667). Binds to RNA (R)-loops, structures consisting of DNA/RNA hybrids and a displaced strand of DNA that occur during transcription, and prevents their accumulation, thereby maintaining genome stability (PubMed:36229594). Also participates in pre-mRNA splicing, translational regulation and snoRNA processing, which is essential for ribosome biogenesis (PubMed:36229594, PubMed:36780110). {ECO:0000250|UniProtKB:Q91VN6, ECO:0000269|PubMed:23222971, ECO:0000269|PubMed:25704810, ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:33650667, ECO:0000269|PubMed:34473945, ECO:0000269|PubMed:35613581, ECO:0000269|PubMed:36229594, ECO:0000269|PubMed:36780110}.
uniprot
proteins
mass_dalton
69838
uniprot
proteins
mutagenesis
MUTAGEN 9; /note="K->R: Complete loss of TRIM21-mediated ubiquitination; when associated with R-115."; /evidence="ECO:0000269|PubMed:23222971"; MUTAGEN 115; /note="K->R: Complete loss of TRIM21-mediated ubiquitination; when associated with R-9."; /evidence="ECO:0000269|PubMed:23222971"; MUTAGEN 345; /note="E->A: Complete loss of ATP-hydrolysis activity."; /evidence="ECO:0000269|PubMed:35613581"; MUTAGEN 364; /note="Y->F: Strong loss of binding to dsDNA and STING1."; /evidence="ECO:0000269|PubMed:25704810"; MUTAGEN 414; /note="Y->F: Strong loss of binding to dsDNA and STING1."; /evidence="ECO:0000269|PubMed:25704810
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-9 regulates the nuclear/cytoplasmic localization. {ECO:0000269|PubMed:35613581}.; PTM: Phosphorylated by BTK; phosphorylation induces binding to dsDNA and STING1. {ECO:0000269|PubMed:25704810}.; PTM: 'Lys-48'-linked ubiquitinated and degraded by TRIM21 leading to negative regulation of the innate immune response to intracellular dsDNA. {ECO:0000269|PubMed:23222971}.
uniprot
proteins
protein_family
DDX41 subfamily
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
pubmed
10607561
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20941364
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23222971
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25704810
uniprot
proteins
pubmed
25920683
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
26712909
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32703943
uniprot
proteins
pubmed
33650667
uniprot
proteins
pubmed
34473945
uniprot
proteins
pubmed
35613581
uniprot
proteins
pubmed
36229594
uniprot
proteins
pubmed
36780110
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26712909, ECO:0000269|PubMed:35613581}. Cytoplasm {ECO:0000269|PubMed:23222971, ECO:0000269|PubMed:25704810, ECO:0000269|PubMed:35613581}. Note=Predominantly present in the nucleus and traffics to the cytoplasm, specifically in the perinuclear region, after DNA stimulation. {ECO:0000269|PubMed:35613581}.
uniprot
proteins