• Gene id: 51202

Gene Summary

• Gene Symbol: DDX47   Gene   UCSC   Ensembl
• Aliases: E4-DBP, HQ0256, MSTP162, RRP3
• Gene name: DEAD-box helicase 47
• Alternate names: probable ATP-dependent RNA helicase DDX47, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47, DEAD box polypeptide 47, DEAD box protein 47, E4-DEAD box protein,
• Gene location: 12p13.1 (101588320: 101609661)     Exons: 8     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the DEAD box protein family. 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 second
• OMIM: 615428

Protein Summary

• Protein general information: Q9H0S4  
  • Name: Probable ATP dependent RNA helicase DDX47 (EC 3.6.4.13) (DEAD box protein 47)
  • Length: 455  
  • Mass: 50647
• Sequence:

  MAAPEEHDSPTEASQPIVEEEETKTFKDLGVTDVLCEACDQLGWTKPTKIQIEAIPLALQGRDIIGLAETGSGKT
  GAFALPILNALLETPQRLFALVLTPTRELAFQISEQFEALGSSIGVQSAVIVGGIDSMSQSLALAKKPHIIIATP
  GRLIDHLENTKGFNLRALKYLVMDEADRILNMDFETEVDKILKVIPRDRKTFLFSATMTKKVQKLQRAALKNPVK
  CAVSSKYQTVEKLQQYYIFIPSKFKDTYLVYILNELAGNSFMIFCSTCNNTQRTALLLRNLGFTAIPLHGQMSQS
  KRLGSLNKFKAKARSILLATDVASRGLDIPHVDVVVNFDIPTHSKDYIHRVGRTARAGRSGKAITFVTQYDVELF
  QRIEHLIGKKLPGFPTQDDEVMMLTERVAEAQRFARMELREHGEKKKRSREDAGDNDDTEGAIGVRNKVAGGKMK
  KRKGR

• Structural information:
  • Protein Domains: (55..22-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (237..39-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 3BER
  • PDBsum: 3BER
  • STRING: ENSP00000350698
• Other Databases: GeneCards:  DDX47  Malacards:  DDX47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006364	rRNA processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0008380	RNA splicing	IMP	biological process
GO:0006364	rRNA processing	IMP	biological process
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: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:0006397	mRNA processing	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray