• Gene id: 8178

Gene Summary

• Gene Symbol: ELL   Gene   UCSC   Ensembl
• Aliases: C19orf17, ELL1, MEN, PPP1R68
• Gene name: elongation factor for RNA polymerase II
• Alternate names: RNA polymerase II elongation factor ELL, ELL gene (11-19 lysine-rich leukemia gene), ELL/KMT2A fusion, ELL/KMT2A fusion protein, KMT2A/ELL fusion, KMT2A/ELL fusion protein, eleven-nineteen lysine-rich leukemia protein, elongation factor RNA polymerase II, protein,
• Gene location: 19p13.11 (43650148: 43705517)     Exons: 23     NC_000001.11
• OMIM: 600284

Protein Summary

• Protein general information: P55199  
  • Name: RNA polymerase II elongation factor ELL (Eleven nineteen lysine rich leukemia protein)
  • Length: 621  
  • Mass: 68265
  • Tissue specificity: Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.
• Sequence:

  MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQDSVSLRPSIRFQGSQGHISIPQPDCPAEAR
  TFSFYLSNIGRDNPQGSFDCIQQYVSSHGEVHLDCLGSIQDKITVCATDDSYQKARQSMAQAEEETRSRSAIVIK
  AGGRYLGKKVQFRKPAPGATDAVPSRKRATPINLASAIRKSGASAVSGGSGVSQRPFRDRVLHLLALRPYRKAEL
  LLRLQKDGLTQADKDALDGLLQQVANMSAKDGTCTLQDCMYKDVQKDWPGYSEGDQQLLKRVLVRKLCQPQSTGS
  LLGDPAASSPPGERGRSASPPQKRLQPPDFIDPLANKKPRISHFTQRAQPAVNGKLGVPNGREALLPTPGPPAST
  DTLSSSTHLPPRLEPPRAHDPLADVSNDLGHSGRDCEHGEAAAPAPTVRLGLPLLTDCAQPSRPHGSPSRSKPKK
  KSKKHKDKERAAEDKPRAQLPDCAPATHATPGAPADTPGLNGTCSVSSVPTSTSETPDYLLKYAAISSSEQRQSY
  KNDFNAEYSEYRDLHARIERITRRFTQLDAQLRQLSQGSEEYETTRGQILQEYRKIKKTNTNYSQEKHRCEYLHS
  KLAHIKRLIAEYDQRQLQAWP

• Structural information:
  • Interpro: IPR042065  IPR031184  IPR031176  IPR019464  IPR010844   IPR036390  
  • PDB: 2DOA
  • PDBsum: 2DOA
  • STRING: ENSP00000262809
• Other Databases: GeneCards:  ELL  Malacards:  ELL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0035363	histone locus body	IDA	cellular component
GO:0035327	transcriptionally active chromatin	IDA	cellular component
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0019902	phosphatase binding	IDA	molecular function
GO:0016607	nuclear speck	IDA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0042795	snRNA transcription by RNA polymerase II	IMP	biological process
GO:0042796	snRNA transcription by RNA polymerase III	IMP	biological process
GO:0045945	positive regulation of transcription by RNA polymerase III	IMP	biological process
GO:0042795	snRNA transcription by RNA polymerase II	IMP	biological process
GO:0032968	positive regulation of transcription elongation from RNA polymerase II promoter	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:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0008023	transcription elongation factor complex	IEA	cellular component
GO:0042795	snRNA transcription by RNA polymerase II	IEA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0032786	positive regulation of DNA-templated transcription, elongation	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	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:0005654	nucleoplasm	TAS	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:0005654	nucleoplasm	TAS	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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
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:0042795	snRNA transcription by RNA polymerase II	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray