• Gene id: 51428

Gene Summary

• Gene Symbol: DDX41   Gene   UCSC   Ensembl
• Aliases: ABS, MPLPF
• Gene name: DEAD-box helicase 41
• Alternate names: probable ATP-dependent RNA helicase DDX41, DEAD (Asp-Glu-Ala-Asp) box polypeptide 41, DEAD box protein 41, DEAD box protein abstrakt homolog, DEAD-box protein abstrakt, putative RNA helicase,
• Gene location: 5q35.3 (177516960: 177511576)     Exons: 17     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 608170

Protein Summary

• Protein general information: Q9UJV9  
  • Name: Probable ATP dependent RNA helicase DDX41 (EC 3.6.4.13) (DEAD box protein 41) (DEAD box protein abstrakt homolog)
  • Length: 622  
  • Mass: 69838
• Sequence:

  MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQLLLQKLLQRRRKGAAEEEQQDSGSEPRGDED
  DIPLGPQSNVSLLDQHQHLKEKAEARKESAKEKQLKEEEKILESVAEGRALMSVKEMAKGITYDDPIKTSWTPPR
  YVLSMSEERHERVRKKYHILVEGDGIPPPIKSFKEMKFPAAILRGLKKKGIHHPTPIQIQGIPTILSGRDMIGIA
  FTGSGKTLVFTLPVIMFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGILEYYCRLLQEDSSPLLRCALCIGG
  MSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVSLDICRYLALDEADRMIDMGFEGDIRTIFSYFKGQRQTLLFS
  ATMPKKIQNFAKSALVKPVTINVGRAGAASLDVIQEVEYVKEEAKMVYLLECLQKTPPPVLIFAEKKADVDAIHE
  YLLLKGVEAVAIHGGKDQEERTKAIEAFREGKKDVLVATDVASKGLDFPAIQHVINYDMPEEIENYVHRIGRTGR
  SGNTGIATTFINKACDESVLMDLKALLLEAKQKVPPVLQVLHCGDESMLDIGGERGCAFCGGLGHRITDCPKLEA
  MQTKQVSNIGRKDYLAHSSMDF

• Structural information:
  • Protein Domains: (212..39-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (407..56-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR014014  
  • Prosite: PS51192 PS51194 PS51195
  • PDB: 2P6N 5GVR 5GVS 5H1Y
  • PDBsum: 2P6N 5GVR 5GVS 5H1Y
  • STRING: ENSP00000422753
• Other Databases: GeneCards:  DDX41  Malacards:  DDX41

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0005681	spliceosomal complex	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IMP	biological process
GO:0030154	cell differentiation	IMP	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)