• Gene id: 54555

Gene Summary

• Gene Symbol: DDX49   Gene   UCSC   Ensembl
• Aliases: Dbp8, R27090_2
• Gene name: DEAD-box helicase 49
• Alternate names: probable ATP-dependent RNA helicase DDX49, DEAD (Asp-Glu-Ala-Asp) box polypeptide 49, DEAD box protein 49,
• Gene location: 19p13.11 (18919702: 18928629)     Exons: 12     NC_000019.10

Protein Summary

• Protein general information: Q9Y6V7  
  • Name: Probable ATP dependent RNA helicase DDX49 (EC 3.6.4.13) (DEAD box protein 49)
  • Length: 483  
  • Mass: 54226
• Sequence:

  MAGFAELGLSSWLVEQCRQLGLKQPTPVQLGCIPAILEGRDCLGCAKTGSGKTAAFVLPILQKLSEDPYGIFCLV
  LTPTRELAYQIAEQFRVLGKPLGLKDCIIVGGMDMVAQALELSRKPHVVIATPGRLADHLRSSNTFSIKKIRFLV
  MDEADRLLEQGCTDFTVDLEAILAAVPARRQTLLFSATLTDTLRELQGLATNQPFFWEAQAPVSTVEQLDQRYLL
  VPEKVKDAYLVHLIQRFQDEHEDWSIIIFTNTCKTCQILCMMLRKFSFPTVALHSMMKQKERFAALAKFKSSIYR
  ILIATDVASRGLDIPTVQVVINHNTPGLPKIYIHRVGRTARAGRQGQAITLVTQYDIHLVHAIEEQIKKKLEEFS
  VEEAEVLQILTQVNVVRRECEIKLEAAHFDEKKEINKRKQLILEGKDPDLEAKRKAELAKIKQKNRRFKEKVEET
  LKRQKAGRAGHKGRPPRTPSGSHSGPVPSQGLV

• Structural information:
  • Protein Domains: (33..20-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (218..38-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • STRING: ENSP00000247003
• Other Databases: GeneCards:  DDX49  Malacards:  DDX49

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044357	regulation of rRNA stability	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006364	rRNA processing	IBA	biological process
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:0003723	RNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq