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Protein

Probable ATP-dependent RNA helicase DDX41

Gene

DDX41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi225 – 232ATPPROSITE-ProRule annotation8
Zinc fingeri580 – 597CCHC-typeAdd BLAST18

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: ProtInc
  • cell differentiation Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • cellular response to interferon-beta Source: Ensembl
  • defense response to virus Source: Ensembl
  • mRNA splicing, via spliceosome Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • positive regulation of type I interferon production Source: Reactome
  • regulation of type I interferon production Source: Reactome
  • RNA secondary structure unwinding Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, RNA-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1834941. STING mediated induction of host immune responses.
R-HSA-3134975. Regulation of innate immune responses to cytosolic DNA.
R-HSA-3270619. IRF3-mediated induction of type I IFN.
SignaLinkiQ9UJV9.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DDX41 (EC:3.6.4.13)
Alternative name(s):
DEAD box protein 41
DEAD box protein abstrakt homolog
Gene namesi
Name:DDX41
Synonyms:ABS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:18674. DDX41.

Subcellular locationi

GO - Cellular componenti

  • catalytic step 2 spliceosome Source: UniProtKB
  • cytosol Source: Reactome
  • endoplasmic reticulum Source: Ensembl
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant.
See also OMIM:616871
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076360164R → W in MPLPF; unknown pathological significance; no effect on localization. 1 PublicationCorresponds to variant rs142143752dbSNPEnsembl.1
Natural variantiVAR_076361396I → T in MPLPF; unknown pathological significance. 1 PublicationCorresponds to variant rs747072227dbSNPEnsembl.1
Natural variantiVAR_076362525R → H in MPLPF; no effect on localization; changed interaction with spliceosomal complexes. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51428.
MIMi616871. phenotype.
OpenTargetsiENSG00000183258.
PharmGKBiPA134908862.

Polymorphism and mutation databases

BioMutaiDDX41.
DMDMi20532370.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000549701 – 622Probable ATP-dependent RNA helicase DDX41Add BLAST622

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei4PhosphoserineCombined sources1
Modified residuei21PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei33PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UJV9.
MaxQBiQ9UJV9.
PaxDbiQ9UJV9.
PeptideAtlasiQ9UJV9.
PRIDEiQ9UJV9.

PTM databases

iPTMnetiQ9UJV9.
PhosphoSitePlusiQ9UJV9.

Expressioni

Gene expression databases

BgeeiENSG00000183258.
CleanExiHS_DDX41.
ExpressionAtlasiQ9UJV9. baseline and differential.
GenevisibleiQ9UJV9. HS.

Organism-specific databases

HPAiHPA017911.
HPA048803.

Interactioni

Subunit structurei

Identified in the spliceosome C complex.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP70Q8NHQ13EBI-1046350,EBI-739624
NKAPQ8N5F72EBI-1046350,EBI-721539
SIAH1Q8IUQ43EBI-1046350,EBI-747107

Protein-protein interaction databases

BioGridi119534. 33 interactors.
IntActiQ9UJV9. 158 interactors.
MINTiMINT-3081244.
STRINGi9606.ENSP00000422753.

Structurei

Secondary structure

1622
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi408 – 414Combined sources7
Helixi417 – 419Combined sources3
Helixi420 – 428Combined sources9
Beta strandi435 – 438Combined sources4
Helixi442 – 455Combined sources14
Beta strandi459 – 462Combined sources4
Helixi468 – 480Combined sources13
Beta strandi484 – 488Combined sources5
Helixi490 – 493Combined sources4
Beta strandi502 – 508Combined sources7
Helixi513 – 520Combined sources8
Beta strandi531 – 536Combined sources6
Helixi542 – 554Combined sources13
Helixi561 – 564Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2P6NX-ray2.60A/B402-569[»]
5GVRX-ray1.50A169-402[»]
5GVSX-ray2.20A/B/C/D169-399[»]
ProteinModelPortaliQ9UJV9.
SMRiQ9UJV9.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UJV9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini212 – 396Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
Domaini407 – 567Helicase C-terminalPROSITE-ProRule annotationAdd BLAST161

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi181 – 209Q motifAdd BLAST29
Motifi344 – 347DEAD box4

Sequence similaritiesi

Contains 1 CCHC-type zinc finger.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri580 – 597CCHC-typeAdd BLAST18

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG0341. Eukaryota.
ENOG410XQQC. LUCA.
GeneTreeiENSGT00820000127023.
HOGENOMiHOG000268792.
HOVERGENiHBG015893.
InParanoidiQ9UJV9.
KOiK13116.
PhylomeDBiQ9UJV9.
TreeFamiTF300340.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR014014. RNA_helicase_DEAD_Q_motif.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UJV9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEESEPERKR ARTDEVPAGG SRSEAEDEDD EDYVPYVPLR QRRQLLLQKL
60 70 80 90 100
LQRRRKGAAE EEQQDSGSEP RGDEDDIPLG PQSNVSLLDQ HQHLKEKAEA
110 120 130 140 150
RKESAKEKQL KEEEKILESV AEGRALMSVK EMAKGITYDD PIKTSWTPPR
160 170 180 190 200
YVLSMSEERH ERVRKKYHIL VEGDGIPPPI KSFKEMKFPA AILRGLKKKG
210 220 230 240 250
IHHPTPIQIQ GIPTILSGRD MIGIAFTGSG KTLVFTLPVI MFCLEQEKRL
260 270 280 290 300
PFSKREGPYG LIICPSRELA RQTHGILEYY CRLLQEDSSP LLRCALCIGG
310 320 330 340 350
MSVKEQMETI RHGVHMMVAT PGRLMDLLQK KMVSLDICRY LALDEADRMI
360 370 380 390 400
DMGFEGDIRT IFSYFKGQRQ TLLFSATMPK KIQNFAKSAL VKPVTINVGR
410 420 430 440 450
AGAASLDVIQ EVEYVKEEAK MVYLLECLQK TPPPVLIFAE KKADVDAIHE
460 470 480 490 500
YLLLKGVEAV AIHGGKDQEE RTKAIEAFRE GKKDVLVATD VASKGLDFPA
510 520 530 540 550
IQHVINYDMP EEIENYVHRI GRTGRSGNTG IATTFINKAC DESVLMDLKA
560 570 580 590 600
LLLEAKQKVP PVLQVLHCGD ESMLDIGGER GCAFCGGLGH RITDCPKLEA
610 620
MQTKQVSNIG RKDYLAHSSM DF
Length:622
Mass (Da):69,838
Last modified:May 10, 2002 - v2
Checksum:iE0A328724E0DF99A
GO

Sequence cautioni

The sequence CAE46035 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti17 – 43PAGGS…LRQRR → LPEEAAPRRKMRTTRTTCPM CRYAAP in AAF04150 (PubMed:10607561).CuratedAdd BLAST27
Sequence conflicti56K → E in BAA91585 (PubMed:14702039).Curated1
Sequence conflicti64Q → E in BAB55355 (PubMed:14702039).Curated1
Sequence conflicti165K → E in BAB55355 (PubMed:14702039).Curated1
Sequence conflicti191A → T in BAA91585 (PubMed:14702039).Curated1
Sequence conflicti352M → T in BAA91585 (PubMed:14702039).Curated1
Sequence conflicti552L → Q in BAB55355 (PubMed:14702039).Curated1
Sequence conflicti570D → G in CAE46035 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076360164R → W in MPLPF; unknown pathological significance; no effect on localization. 1 PublicationCorresponds to variant rs142143752dbSNPEnsembl.1
Natural variantiVAR_076361396I → T in MPLPF; unknown pathological significance. 1 PublicationCorresponds to variant rs747072227dbSNPEnsembl.1
Natural variantiVAR_076362525R → H in MPLPF; no effect on localization; changed interaction with spliceosomal complexes. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF195417 mRNA. Translation: AAF04150.1.
AK001255 mRNA. Translation: BAA91585.1.
AK027768 mRNA. Translation: BAB55355.1.
AK315491 mRNA. Translation: BAG37875.1.
CH471195 Genomic DNA. Translation: EAW84981.1.
BC015476 mRNA. Translation: AAH15476.1.
AL137455 mRNA. Translation: CAB70746.1.
BX641072 mRNA. Translation: CAE46035.1. Sequence problems.
CCDSiCCDS4427.1.
PIRiT46269.
RefSeqiNP_001308661.1. NM_001321732.1.
NP_001308759.1. NM_001321830.1.
NP_057306.2. NM_016222.3.
UniGeneiHs.484288.

Genome annotation databases

EnsembliENST00000507955; ENSP00000422753; ENSG00000183258.
GeneIDi51428.
KEGGihsa:51428.
UCSCiuc003mho.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF195417 mRNA. Translation: AAF04150.1.
AK001255 mRNA. Translation: BAA91585.1.
AK027768 mRNA. Translation: BAB55355.1.
AK315491 mRNA. Translation: BAG37875.1.
CH471195 Genomic DNA. Translation: EAW84981.1.
BC015476 mRNA. Translation: AAH15476.1.
AL137455 mRNA. Translation: CAB70746.1.
BX641072 mRNA. Translation: CAE46035.1. Sequence problems.
CCDSiCCDS4427.1.
PIRiT46269.
RefSeqiNP_001308661.1. NM_001321732.1.
NP_001308759.1. NM_001321830.1.
NP_057306.2. NM_016222.3.
UniGeneiHs.484288.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2P6NX-ray2.60A/B402-569[»]
5GVRX-ray1.50A169-402[»]
5GVSX-ray2.20A/B/C/D169-399[»]
ProteinModelPortaliQ9UJV9.
SMRiQ9UJV9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119534. 33 interactors.
IntActiQ9UJV9. 158 interactors.
MINTiMINT-3081244.
STRINGi9606.ENSP00000422753.

PTM databases

iPTMnetiQ9UJV9.
PhosphoSitePlusiQ9UJV9.

Polymorphism and mutation databases

BioMutaiDDX41.
DMDMi20532370.

Proteomic databases

EPDiQ9UJV9.
MaxQBiQ9UJV9.
PaxDbiQ9UJV9.
PeptideAtlasiQ9UJV9.
PRIDEiQ9UJV9.

Protocols and materials databases

DNASUi51428.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000507955; ENSP00000422753; ENSG00000183258.
GeneIDi51428.
KEGGihsa:51428.
UCSCiuc003mho.4. human.

Organism-specific databases

CTDi51428.
DisGeNETi51428.
GeneCardsiDDX41.
HGNCiHGNC:18674. DDX41.
HPAiHPA017911.
HPA048803.
MIMi608170. gene.
616871. phenotype.
neXtProtiNX_Q9UJV9.
OpenTargetsiENSG00000183258.
PharmGKBiPA134908862.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0341. Eukaryota.
ENOG410XQQC. LUCA.
GeneTreeiENSGT00820000127023.
HOGENOMiHOG000268792.
HOVERGENiHBG015893.
InParanoidiQ9UJV9.
KOiK13116.
PhylomeDBiQ9UJV9.
TreeFamiTF300340.

Enzyme and pathway databases

ReactomeiR-HSA-1834941. STING mediated induction of host immune responses.
R-HSA-3134975. Regulation of innate immune responses to cytosolic DNA.
R-HSA-3270619. IRF3-mediated induction of type I IFN.
SignaLinkiQ9UJV9.

Miscellaneous databases

ChiTaRSiDDX41. human.
EvolutionaryTraceiQ9UJV9.
GeneWikiiDDX41.
GenomeRNAii51428.
PROiQ9UJV9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183258.
CleanExiHS_DDX41.
ExpressionAtlasiQ9UJV9. baseline and differential.
GenevisibleiQ9UJV9. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR014014. RNA_helicase_DEAD_Q_motif.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51195. Q_MOTIF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDDX41_HUMAN
AccessioniPrimary (citable) accession number: Q9UJV9
Secondary accession number(s): B2RDC8
, Q96BK6, Q96K05, Q9NT96, Q9NW04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2002
Last modified: November 30, 2016
This is version 173 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.