Property Summary

NCBI Gene PubMed Count 23
Grant Count 1,157
R01 Count 622
Funding $383,095,178.9
PubMed Score 3737.58
PubTator Score 15.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.150 0.004
Multiple myeloma 1.274 0.000
lung cancer 1.200 0.003
non primary Sjogren syndrome sicca 1.100 0.043
ovarian cancer 2.900 0.000

Synonym

Accession Q9UJV9 B2RDC8 Q96BK6 Q96K05 Q9NT96 Q9NW04
Symbols ABS
MPLPF

Gene

PDB

2P6N  

Gene RIF (5)

PMID Text
26712909 This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations.
25920683 corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing
23142775 results suggest a mechanism whereby c-di-GMP and c-di-AMP are detected by DDX41, which forms a complex with STING to signal to TBK1-IRF3 and activate the interferon response
21892174 DDX41 is an additional DNA sensor that depends on STING to sense pathogenic DNA.
15690390 The N-terminal domain of Abs interacts with the phox homology (PX) domain of SNX2 suggesting that PX domains may also participate in protein-protein interaction.

AA Sequence

MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQLLLQKLLQRRRKGAAEEEQQDSGSEP      1 - 70
RGDEDDIPLGPQSNVSLLDQHQHLKEKAEARKESAKEKQLKEEEKILESVAEGRALMSVKEMAKGITYDD     71 - 140
PIKTSWTPPRYVLSMSEERHERVRKKYHILVEGDGIPPPIKSFKEMKFPAAILRGLKKKGIHHPTPIQIQ    141 - 210
GIPTILSGRDMIGIAFTGSGKTLVFTLPVIMFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGILEYY    211 - 280
CRLLQEDSSPLLRCALCIGGMSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVSLDICRYLALDEADRMI    281 - 350
DMGFEGDIRTIFSYFKGQRQTLLFSATMPKKIQNFAKSALVKPVTINVGRAGAASLDVIQEVEYVKEEAK    351 - 420
MVYLLECLQKTPPPVLIFAEKKADVDAIHEYLLLKGVEAVAIHGGKDQEERTKAIEAFREGKKDVLVATD    421 - 490
VASKGLDFPAIQHVINYDMPEEIENYVHRIGRTGRSGNTGIATTFINKACDESVLMDLKALLLEAKQKVP    491 - 560
PVLQVLHCGDESMLDIGGERGCAFCGGLGHRITDCPKLEAMQTKQVSNIGRKDYLAHSSMDF            561 - 622
//

Text Mined References (33)

PMID Year Title
26712909 2016 Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
25920683 2015 Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23142775 2012 The helicase DDX41 recognizes the bacterial secondary messengers cyclic di-GMP and cyclic di-AMP to activate a type I interferon immune response.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21892174 2011 The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells.
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