• Gene id: 10521

Gene Summary

• Gene Symbol: DDX17   Gene   UCSC   Ensembl
• Aliases: P72, RH70
• Gene name: DEAD-box helicase 17
• Alternate names: probable ATP-dependent RNA helicase DDX17, DEAD (Asp-Glu-Ala-Asp) box helicase 17, DEAD (Asp-Glu-Ala-Asp) box polypeptide 17, DEAD box protein p72, DEAD box protein p82, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD), RNA-dependent helicase p72,
• Gene location: 22q13.1 (38506310: 38483437)     Exons: 13     NC_000022.11
• 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: 608469

Protein Summary

• Protein general information: Q92841  
  • Name: Probable ATP dependent RNA helicase DDX17 (EC 3.6.4.13) (DEAD box protein 17) (DEAD box protein p72) (DEAD box protein p82) (RNA dependent helicase p72)
  • Length: 729  
  • Mass: 80272
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MPTGFVAPILCVLLPSPTREAATVASATGDSASERESAAPAAAPTAEAPPPSVVTRPEPQALPSPAIRAPLPDLY
  PFGTMRGGGFGDRDRDRDRGGFGARGGGGLPPKKFGNPGERLRKKKWDLSELPKFEKNFYVEHPEVARLTPYEVD
  ELRRKKEITVRGGDVCPKPVFAFHHANFPQYVMDVLMDQHFTEPTPIQCQGFPLALSGRDMVGIAQTGSGKTLAY
  LLPAIVHINHQPYLERGDGPICLVLAPTRELAQQVQQVADDYGKCSRLKSTCIYGGAPKGPQIRDLERGVEICIA
  TPGRLIDFLESGKTNLRRCTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQLAEDFLRDYT
  QINVGNLELSANHNILQIVDVCMESEKDHKLIQLMEEIMAEKENKTIIFVETKRRCDDLTRRMRRDGWPAMCIHG
  DKSQPERDWVLNEFRSGKAPILIATDVASRGLDVEDVKFVINYDYPNSSEDYVHRIGRTARSTNKGTAYTFFTPG
  NLKQARELIKVLEEANQAINPKLMQLVDHRGGGGGGGGRSRYRTTSSANNPNLMYQDECDRRLRGVKDGGRRDSA
  SYRDRSETDRAGYANGSGYGSPNSAFGAQAGQYTYGQGTYGAAAYGTSSYTAQEYGAGTYGASSTTSTGRSSQSS
  SQQFSGIGRSGQQPQPLMSQQFAQPPGATNMIGYMGQTAYQYPPPPPPPPPSRK

• Structural information:
  • Protein Domains: (202..37-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (405..55-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 6UV0 6UV1 6UV2 6UV3 6UV4
  • PDBsum: 6UV0 6UV1 6UV2 6UV3 6UV4
  • DIP: 29843
  • STRING: ENSP00000380033
• Other Databases: GeneCards:  DDX17  Malacards:  DDX17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0000380	alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0045445	myoblast differentiation	ISS	biological process
GO:0010586	miRNA metabolic process	IMP	biological process
GO:0030521	androgen receptor signaling pathway	IMP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	IMP	biological process
GO:0001837	epithelial to mesenchymal transition	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000380	alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	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: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:0051607	defense response to virus	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0008186	RNA-dependent ATPase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006396	RNA processing	TAS	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	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
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