• Gene id: 8886

Gene Summary

• Gene Symbol: DDX18   Gene   UCSC   Ensembl
• Aliases: Has1, MrDb
• Gene name: DEAD-box helicase 18
• Alternate names: ATP-dependent RNA helicase DDX18, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18, DEAD box protein 18, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated), Myc-regulated DEAD box protein,
• Gene location: 2q14.1 (117814690: 117832376)     Exons: 14     NC_000002.12
• 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 m
• OMIM: 606355

Protein Summary

• Protein general information: Q9NVP1  
  • Name: ATP dependent RNA helicase DDX18 (EC 3.6.4.13) (DEAD box protein 18) (Myc regulated DEAD box protein) (MrDb)
  • Length: 670  
  • Mass: 75407
• Sequence:

  MSHLPMKLLRKKIEKRNLKLRQRNLKFQGASNLTLSETQNGDVSEETMGSRKVKKSKQKPMNVGLSETQNGGMSQ
  EAVGNIKVTKSPQKSTVLTNGEAAMQSSNSESKKKKKKKRKMVNDAEPDTKKAKTENKGKSEEESAETTKETENN
  VEKPDNDEDESEVPSLPLGLTGAFEDTSFASLCNLVNENTLKAIKEMGFTNMTEIQHKSIRPLLEGRDLLAAAKT
  GSGKTLAFLIPAVELIVKLRFMPRNGTGVLILSPTRELAMQTFGVLKELMTHHVHTYGLIMGGSNRSAEAQKLGN
  GINIIVATPGRLLDHMQNTPGFMYKNLQCLVIDEADRILDVGFEEELKQIIKLLPTRRQTMLFSATQTRKVEDLA
  RISLKKEPLYVGVDDDKANATVDGLEQGYVVCPSEKRFLLLFTFLKKNRKKKLMVFFSSCMSVKYHYELLNYIDL
  PVLAIHGKQKQNKRTTTFFQFCNADSGTLLCTDVAARGLDIPEVDWIVQYDPPDDPKEYIHRVGRTARGLNGRGH
  ALLILRPEELGFLRYLKQSKVPLSEFDFSWSKISDIQSQLEKLIEKNYFLHKSAQEAYKSYIRAYDSHSLKQIFN
  VNNLNLPQVALSFGFKVPPFVDLNVNSNEGKQKKRGGGGGFGYQKTKKVEKSKIFKHISKKSSDSRQFSH

• Structural information:
  • Protein Domains: (210..38-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (399..56-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR025313  IPR014001  IPR001650  IPR027417   IPR000629  IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 3LY5
  • PDBsum: 3LY5
  • STRING: ENSP00000263239
• Other Databases: GeneCards:  DDX18  Malacards:  DDX18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881