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

    Gene ID: 51428, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:18674
    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
    NEW
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    Genomic context

    See DDX41 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177511577..177516961, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178054559..178059943, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176938578..176943962, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176911017-176911732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176911733-176912448 Neighboring gene Sharpr-MPRA regulatory region 15492 Neighboring gene PDZ and LIM domain 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176918835-176919378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176919379-176919920 Neighboring gene Sharpr-MPRA regulatory region 583 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176923257-176923998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176925479-176926218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176929555-176930508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176930509-176931460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23727 Neighboring gene docking protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176943204-176944028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23728 Neighboring gene family with sequence similarity 193 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176981263-176981766 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4836 Neighboring gene FAM193B divergent transcript Neighboring gene CRISPRi-validated cis-regulatory element chr5.4837

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-02-09)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-02-09)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC8828

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables RNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cGAS/STING signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable ATP-dependent RNA helicase DDX41
    Names
    Abstrakt
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_046846.2 RefSeqGene

      Range
      5001..10385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1386

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC145098
      UniProtKB/TrEMBL
      B3KRK2
      Related
      ENST00000503078.5
      Conserved Domains (2) summary
      COG0513
      Location:27440
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd17951
      Location:66271
      DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41
    2. NM_001321830.2NP_001308759.1  probable ATP-dependent RNA helicase DDX41 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC145098
      UniProtKB/TrEMBL
      B3KRK2
      Conserved Domains (2) summary
      COG0513
      Location:27440
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd17951
      Location:66271
      DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41
    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
      B2RDC8, Q96BK6, Q96K05, Q9NT96, Q9NW04, Q9UJV9
      UniProtKB/TrEMBL
      Q53HI2
      Related
      ENSP00000330349.8, ENST00000330503.12
      Conserved Domains (2) summary
      COG0513
      Location:153566
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd17951
      Location:192397
      DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      177511577..177516961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178054559..178059943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)