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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.
Title: Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.
Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.
Title: Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.
Title: The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Title: Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies.
Title: Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Title: Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Prevalence and significance of DDX41 gene variants in the general population.
Title: Prevalence and significance of DDX41 gene variants in the general population.
Ribosome profiling analysis reveals the roles of DDX41 in translational regulation.
Title: Ribosome profiling analysis reveals the roles of DDX41 in translational regulation.
DDX41-associated susceptibility to myeloid neoplasms.
Title: DDX41-associated susceptibility to myeloid neoplasms.
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Title: Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
DDX41-related hematologic malignancy predisposition syndrome MedGen: C4225174 OMIM: 616871 GeneReviews: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_24355-24356:1030120548:1 (e-PCR)
- UniSTS:268896

RH47489 (e-PCR)
- UniSTS:19820

A002K19 (e-PCR)
- UniSTS:899

G16059 (e-PCR)
- UniSTS:26837

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 more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor 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 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
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 more info	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

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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

EC 3.6.4.13

NP_001308759.1

EC 3.6.4.13

NP_057306.2

EC 3.6.4.13

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

NG_046846.2 RefSeqGene

Range

5001..10385

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1386

mRNA and Protein(s)

NM_001321732.2 → NP_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:27 → 440

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd17951
Location:66 → 271

DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41
NM_001321830.2 → NP_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:27 → 440

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd17951
Location:66 → 271

DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41
NM_016222.4 → NP_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:153 → 566

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd17951
Location:192 → 397

DEADc_DDX41; DEAD-box helicase domain of DEAD box protein 41