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Entry version 193 (13 Feb 2019)
Sequence version 2 (10 May 2002)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi225 – 232ATPPROSITE-ProRule annotation8
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri580 – 597CCHC-typeAdd BLAST18

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHelicase, Hydrolase, RNA-binding
Biological processmRNA processing, mRNA splicing
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9UJV9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DDX41
Synonyms:ABS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183258.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18674 DDX41

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608170 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UJV9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076360164R → W in MPLPF; unknown pathological significance; no effect on localization. 1 PublicationCorresponds to variant dbSNP:rs142143752EnsemblClinVar.1
Natural variantiVAR_076361396I → T in MPLPF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747072227EnsemblClinVar.1
Natural variantiVAR_076362525R → H in MPLPF; no effect on localization; changed interaction with spliceosomal complexes. 2 PublicationsCorresponds to variant dbSNP:rs869312828EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51428

MalaCards human disease database

More...
MalaCardsi
DDX41
MIMi616871 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183258

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
488647 DDX41-related hematologic malignancy predisposition syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134908862

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DDX41

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20532370

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000549701 – 622Probable ATP-dependent RNA helicase DDX41Add BLAST622

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei4PhosphoserineCombined sources1
Modified residuei21PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei33PhosphotyrosineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki416Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki442Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UJV9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UJV9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9UJV9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UJV9

PeptideAtlas

More...
PeptideAtlasi
Q9UJV9

PRoteomics IDEntifications database

More...
PRIDEi
Q9UJV9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84666

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q9UJV9

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UJV9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UJV9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000183258 Expressed in 219 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UJV9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UJV9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017911
HPA048803

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Identified in the spliceosome C complex.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119534, 43 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UJV9

Protein interaction database and analysis system

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IntActi
Q9UJV9, 161 interactors

Molecular INTeraction database

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MINTi
Q9UJV9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000422753

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1622
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2P6NX-ray2.60A/B402-569[»]
5GVRX-ray1.50A169-402[»]
5GVSX-ray2.20A/B/C/D169-399[»]
5H1YX-ray2.26A/B153-410[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UJV9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UJV9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9UJV9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini212 – 396Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
Domaini407 – 567Helicase C-terminalPROSITE-ProRule annotationAdd BLAST161

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi181 – 209Q motifAdd BLAST29
Motifi344 – 347DEAD box4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

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

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0341 Eukaryota
ENOG410XQQC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156333

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000268792

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG015893

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UJV9

KEGG Orthology (KO)

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KOi
K13116

Database of Orthologous Groups

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OrthoDBi
447398at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UJV9

TreeFam database of animal gene trees

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TreeFami
TF300340

Family and domain databases

Conserved Domains Database

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CDDi
cd00079 HELICc, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR014014 RNA_helicase_DEAD_Q_motif

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51195 Q_MOTIF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0A328724E0DF99A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNN5J3KNN5_HUMAN
Probable ATP-dependent RNA helicase...
DDX41
640Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8L8H0Y8L8_HUMAN
Probable ATP-dependent RNA helicase...
DDX41
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YA06H0YA06_HUMAN
Probable ATP-dependent RNA helicase...
DDX41
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RGI7D6RGI7_HUMAN
Probable ATP-dependent RNA helicase...
DDX41
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RD33D6RD33_HUMAN
Probable ATP-dependent RNA helicase...
DDX41
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs142143752EnsemblClinVar.1
Natural variantiVAR_076361396I → T in MPLPF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747072227EnsemblClinVar.1
Natural variantiVAR_076362525R → H in MPLPF; no effect on localization; changed interaction with spliceosomal complexes. 2 PublicationsCorresponds to variant dbSNP:rs869312828EnsemblClinVar.1

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS4427.1

Protein sequence database of the Protein Information Resource

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PIRi
T46269

NCBI Reference Sequences

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RefSeqi
NP_001308661.1, NM_001321732.1
NP_001308759.1, NM_001321830.1
NP_057306.2, NM_016222.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.484288

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000507955; ENSP00000422753; ENSG00000183258

Database of genes from NCBI RefSeq genomes

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GeneIDi
51428

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51428

UCSC genome browser

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UCSCi
uc003mho.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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[»]
5H1YX-ray2.26A/B153-410[»]
ProteinModelPortaliQ9UJV9
SMRiQ9UJV9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119534, 43 interactors
CORUMiQ9UJV9
IntActiQ9UJV9, 161 interactors
MINTiQ9UJV9
STRINGi9606.ENSP00000422753

PTM databases

CarbonylDBiQ9UJV9
iPTMnetiQ9UJV9
PhosphoSitePlusiQ9UJV9

Polymorphism and mutation databases

BioMutaiDDX41
DMDMi20532370

Proteomic databases

EPDiQ9UJV9
jPOSTiQ9UJV9
MaxQBiQ9UJV9
PaxDbiQ9UJV9
PeptideAtlasiQ9UJV9
PRIDEiQ9UJV9
ProteomicsDBi84666

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
51428
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51428
DisGeNETi51428
EuPathDBiHostDB:ENSG00000183258.11

GeneCards: human genes, protein and diseases

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GeneCardsi
DDX41
HGNCiHGNC:18674 DDX41
HPAiHPA017911
HPA048803
MalaCardsiDDX41
MIMi608170 gene
616871 phenotype
neXtProtiNX_Q9UJV9
OpenTargetsiENSG00000183258
Orphaneti488647 DDX41-related hematologic malignancy predisposition syndrome
PharmGKBiPA134908862

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0341 Eukaryota
ENOG410XQQC LUCA
GeneTreeiENSGT00940000156333
HOGENOMiHOG000268792
HOVERGENiHBG015893
InParanoidiQ9UJV9
KOiK13116
OrthoDBi447398at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DDX41 human
EvolutionaryTraceiQ9UJV9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DDX41

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51428

Protein Ontology

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PROi
PR:Q9UJV9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183258 Expressed in 219 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ9UJV9 baseline and differential
GenevisibleiQ9UJV9 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR014014 RNA_helicase_DEAD_Q_motif
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51195 Q_MOTIF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDDX41_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UJV9
Secondary accession number(s): B2RDC8
, Q96BK6, Q96K05, Q9NT96, Q9NW04
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2002
Last modified: February 13, 2019
This is version 193 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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