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DDX41 DEAD-box helicase 41 [ Homo sapiens (human) ]

Gene ID: 51428, updated on 6-Jan-2019

Summary

Official Symbol
DDX41provided by HGNC
Official Full Name
DEAD-box helicase 41provided by HGNC
Primary source
HGNC:HGNC:18674
See related
Ensembl:ENSG00000183258 MIM:608170
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABS; MPLPF
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 mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 14.1) and 25 other tissues See more
Orthologs

Genomic context

See DDX41 in Genome Data Viewer
Location:
5q35.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (177511577..177517326, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176938578..176943967, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PDZ and LIM domain 7 Neighboring gene docking protein 3 Neighboring gene uncharacterized LOC107986488 Neighboring gene family with sequence similarity 193 member B Neighboring gene uncharacterized LOC105377750

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
    Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
  • IRF3-mediated induction of type I IFN, organism-specific biosystem (from REACTOME)
    IRF3-mediated induction of type I IFN, organism-specific biosystemTANK-binding kinase 1 (TBK1) and interferon regulatory factor 3 (IRF3) are central regulators of type-I interferon induction during bacterial or viral infection. TBK1 was found to form complexes with...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Regulation of innate immune responses to cytosolic DNA, organism-specific biosystem (from REACTOME)
    Regulation of innate immune responses to cytosolic DNA, organism-specific biosystemInnate immune responses are coordinated and regulated to provide an efficient first line of defense against pathogens and at the same time to prevent host self-damage. Here we present some regulatory...
  • STING mediated induction of host immune responses, organism-specific biosystem (from REACTOME)
    STING mediated induction of host immune responses, organism-specific biosystemSTING (stimulator of IFN genes; also known as MITA/ERIS/MPYS/TMEM173) is an endoplasmic reticulum (ER) resident, which is required for effective type I IFN production in response to nucleic acids. In...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8828

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to interferon-beta IEA
Inferred from Electronic Annotation
more info
 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
probable ATP-dependent RNA helicase DDX41
Names
DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DEAD box protein 41
DEAD box protein abstrakt homolog
DEAD-box protein abstrakt
putative RNA helicase
NP_001308661.1
NP_001308759.1
NP_057306.2
XP_024301877.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046846.1 RefSeqGene

    Range
    5001..10750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321732.1NP_001308661.1  probable ATP-dependent RNA helicase DDX41 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK091545, AK091774, BC015476
    UniProtKB/Swiss-Prot
    Q9UJV9
    UniProtKB/TrEMBL
    B3KRK2
    Conserved Domains (1) summary
    COG0513
    Location:27440
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
  2. NM_001321830.1NP_001308759.1  probable ATP-dependent RNA helicase DDX41 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK091545, BC015476, DB039560
    UniProtKB/Swiss-Prot
    Q9UJV9
    UniProtKB/TrEMBL
    B3KRK2
    Conserved Domains (1) summary
    COG0513
    Location:27440
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
  3. NM_016222.4NP_057306.2  probable ATP-dependent RNA helicase DDX41 isoform 1

    See identical proteins and their annotated locations for NP_057306.2

    Status: REVIEWED

    Source sequence(s)
    AC145098
    Consensus CDS
    CCDS4427.1
    UniProtKB/Swiss-Prot
    Q9UJV9
    Related
    ENSP00000422753.1, ENST00000507955.5
    Conserved Domains (1) summary
    COG0513
    Location:153566
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    177511577..177517326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446109.1XP_024301877.1  probable ATP-dependent RNA helicase DDX41 isoform X1

    Conserved Domains (1) summary
    COG0513
    Location:34447
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
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