• Gene id: 64794

Gene Summary

• Gene Symbol: DDX31   Gene   UCSC   Ensembl
• Aliases: PPP1R25
• Gene name: DEAD-box helicase 31
• Alternate names: probable ATP-dependent RNA helicase DDX31, DEAD (Asp-Glu-Ala-Asp) box polypeptide 31, DEAD box protein 31, DEAD/DEXH helicase DDX31, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31, G2 helicase, helicain, protein phosphatase 1, regulatory subunit 25,
• Gene location: 9q34.13 (29715788: 29698885)     Exons: 9     NC_000019.10
• 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 m
• OMIM: 616533

Protein Summary

• Protein general information: Q9H8H2  
  • Name: Probable ATP dependent RNA helicase DDX31 (EC 3.6.4.13) (DEAD box protein 31) (Helicain)
  • Length: 851  
  • Mass: 94087
  • Tissue specificity: Weakly or undetectably expressed in normal organs. Up-regulated in renal cell carcinoma. {ECO
• Sequence:

  MAPDLASQRHSESFPSVNSRPNVILPGREGRREGLPPGGGTRGSLVPTRPVPPSPAPLGTSPYSWSRSGPGRGGG
  AGSSRVPRGVPGPAVCAPGSLLHHASPTQTMAAADGSLFDNPRTFSRRPPAQASRQAKATKRKYQASSEAPPAKR
  RNETSFLPAKKTSVKETQRTFKGNAQKMFSPKKHSVSTSDRNQEERQCIKTSSLFKNNPDIPELHRPVVKQVQEK
  VFTSAAFHELGLHPHLISTINTVLKMSSMTSVQKQSIPVLLEGRDALVRSQTGSGKTLAYCIPVVQSLQAMESKI
  QRSDGPYALVLVPTRELALQSFDTVQKLLKPFTWIVPGVLMGGEKRKSEKARLRKGINILISTPGRLVDHIKSTK
  NIHFSRLRWLVFDEADRILDLGFEKDITVILNAVNAECQKRQNVLLSATLTEGVTRLADISLHDPVSISVLDKSH
  DQLNPKDKAVQEVCPPPAGDKLDSFAIPESLKQHVTVVPSKLRLVCLAAFILQKCKFEEDQKMVVFFSSCELVEF
  HYSLFLQTLLSSSGAPASGQLPSASMRLKFLRLHGGMEQEERTAVFQEFSHSRRGVLLCTDVAARGLDLPQVTWI
  VQYNAPSSPAEYIHRIGRTARIGCHGSSLLILAPSEAEYVNSLASHKINVSEIKMEDILCVLTRDDCFKGKRWGA
  QKSHAVGPQEIRERATVLQTVFEDYVHSSERRVSWAKKALQSFIQAYATYPRELKHIFHVRSLHLGHVAKSFGLR
  DAPRNLSALTRKKRKAHVKRPDLHKKTQSKHSLAEILRSEYSSGMEADIAKVKKQNAPGEPGGRPLQHSLQPTPC
  FGRGKTLKWRKTQKGVQRDSKTSQKV

• Structural information:
  • Protein Domains: (262..44-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (480..65-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR025313  IPR014001  IPR001650  IPR027417   IPR000629  IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • STRING: ENSP00000361232
• Other Databases: GeneCards:  DDX31  Malacards:  DDX31

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042254	ribosome biogenesis	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:0042254	ribosome biogenesis	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:0004386	helicase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	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
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq