• Gene id: 80237

Gene Summary

• Gene Symbol: ELL3   Gene   UCSC   Ensembl
• Gene name: elongation factor for RNA polymerase II 3
• Alternate names: RNA polymerase II elongation factor ELL3, elongation factor RNA polymerase II-like 3,
• Gene location: 15q15.3 (43776965: 43772619)     Exons: 11     NC_000015.10
• OMIM: 609885

Protein Summary

• Protein general information: Q9HB65  
  • Name: RNA polymerase II elongation factor ELL3
  • Length: 397  
  • Mass: 45361
  • Tissue specificity: Testis specific. {ECO
• Sequence:

  MEELQEPLRGQLRLCFTQAARTSLLLLRLNDAALRALQECQRQQVRPVIAFQGHRGYLRLPGPGWSCLFSFIVSQ
  CCQEGAGGSLDLVCQRFLRSGPNSLHCLGSLRERLIIWAAMDSIPAPSSVQGHNLTEDARHPESWQNTGGYSEGD
  AVSQPQMALEEVSVSDPLASNQGQSLPGSSREHMAQWEVRSQTHVPNREPVQALPSSASRKRLDKKRSVPVATVE
  LEEKRFRTLPLVPSPLQGLTNQDLQEGEDWEQEDEDMDPRLEHSSSVQEDSESPSPEDIPDYLLQYRAIHSAEQQ
  HAYEQDFETDYAEYRILHARVGTASQRFIELGAEIKRVRRGTPEYKVLEDKIIQEYKKFRKQYPSYREEKRRCEY
  LHQKLSHIKGLILEFEEKNRGS

• Structural information:
  • Interpro: IPR031176  IPR031175  IPR019464  IPR010844  
  • STRING: ENSP00000320346
• Other Databases: GeneCards:  ELL3  Malacards:  ELL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0042795	snRNA transcription by RNA polymerase II	IMP	biological process
GO:0048863	stem cell differentiation	ISS	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0006366	transcription by RNA polymerase II	ISS	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0008023	transcription elongation factor complex	IEA	cellular component
GO:0048863	stem cell differentiation	IEA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0042795	snRNA transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:1901797	negative regulation of signal transduction by p53 class mediator	IEA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006354	DNA-templated transcription, elongation	IDA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0032786	positive regulation of DNA-templated transcription, elongation	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008023	transcription elongation factor complex	NAS	cellular component
GO:0007283	spermatogenesis	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray