• Gene id: 11218

Gene Summary

• Gene Symbol: DDX20   Gene   UCSC   Ensembl
• Aliases: DP103, GEMIN3
• Gene name: DEAD-box helicase 20
• Alternate names: probable ATP-dependent RNA helicase DDX20, DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, DEAD box protein 20, DEAD box protein DP 103, DEAD-box protein DP103, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD, SMN-interacting protein, component of gems 3, gemin,
• Gene location: 1p13.2 (111755900: 111767999)     Exons: 11     NC_000001.11
• 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 m
• OMIM: 606168

Protein Summary

• Protein general information: Q9UHI6  
  • Name: Probable ATP dependent RNA helicase DDX20 (EC 3.6.4.13) (Component of gems 3) (DEAD box protein 20) (DEAD box protein DP 103) (Gemin 3)
  • Length: 824  
  • Mass: 92241
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAAAFEASGALAAVATAMPAEHVAVQVPAPEPTPGPVRILRTAQDLSSPRTRTGDVLLAEPADFESLLLSRPVLE
  GLRAAGFERPSPVQLKAIPLGRCGLDLIVQAKSGTGKTCVFSTIALDSLVLENLSTQILILAPTREIAVQIHSVI
  TAIGIKMEGLECHVFIGGTPLSQDKTRLKKCHIAVGSPGRIKQLIELDYLNPGSIRLFILDEADKLLEEGSFQEQ
  INWIYSSLPASKQMLAVSATYPEFLANALTKYMRDPTFVRLNSSDPSLIGLKQYYKVVNSYPLAHKVFEEKTQHL
  QELFSRIPFNQALVFSNLHSRAQHLADILSSKGFPAECISGNMNQNQRLDAMAKLKHFHCRVLISTDLTSRGIDA
  EKVNLVVNLDVPLDWETYMHRIGRAGRFGTLGLTVTYCCRGEEENMMMRIAQKCNINLLPLPDPIPSGLMEECVD
  WDVEVKAAVHTYGIASVPNQPLKKQIQKIERTLQIQKAHGDHMASSRNNSVSGLSVKSKNNTKQKLPVKSHSECG
  IIEKATSPKELGCDRQSEEQMKNSVQTPVENSTNSQHQVKEALPVSLPQIPCLSSFKIHQPYTLTFAELVEDYEH
  YIKEGLEKPVEIIRHYTGPGDQTVNPQNGFVRNKVIEQRVPVLASSSQSGDSESDSDSYSSRTSSQSKGNKSYLE
  GSSDNQLKDSESTPVDDRISLEQPPNGSDTPNPEKYQESPGIQMKTRLKEGASQRAKQSRRNLPRRSSFRLQTEA
  QEDDWYDCHREIRLSFSDTYQDYEEYWRAYYRAWQEYYAAASHSYYWNAQRHPSWMAAYHMNTIYLQEMMHSNQ

• Structural information:
  • Protein Domains: (93..26-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (299..44-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR000629   IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • PDB: 2OXC 3B7G
  • PDBsum: 2OXC 3B7G
  • DIP: 32606
  • STRING: ENSP00000358716
• Other Databases: GeneCards:  DDX20  Malacards:  DDX20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0032797	SMN complex	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
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:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0000244	spliceosomal tri-snRNP complex assembly	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006396	RNA processing	TAS	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0090571	RNA polymerase II transcription repressor complex	IEA	cellular component
GO:0048477	oogenesis	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0017053	transcription repressor complex	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray