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

Gene ID: 51428, updated on 18-Aug-2021

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
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Genomic context

See DDX41 in Genome Data Viewer
Location:
5q35.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177511577..177516961, complement)
105.20201022 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 PDZ and LIM domain 7 Neighboring gene Sharpr-MPRA regulatory region 15492 Neighboring gene docking protein 3 Neighboring gene uncharacterized LOC107986488 Neighboring gene family with sequence similarity 193 member B Neighboring gene CRISPRi-validated cis-regulatory element chr5.4836 Neighboring gene FAM193B divergent transcript

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?

Pathways from PubChem

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
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
XP_024301877.1

NCBI Reference Sequences (RefSeq)

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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/Swiss-Prot
    Q9UJV9
    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/Swiss-Prot
    Q9UJV9
    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
    Q9UJV9
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177511577..177516961 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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