• Gene id: 123169

Gene Summary

• Gene Symbol: LEO1   Gene   UCSC   Ensembl
• Aliases: RDL
• Gene name: LEO1 homolog, Paf1/RNA polymerase II complex component
• Alternate names: RNA polymerase-associated protein LEO1, Leo1 Paf1/RNA polymerase II complex component, Leo1, Paf1/RNA polymerase II complex component, homolog, replicative senescence down-regulated leo1-like protein,
• Gene location: 15q21.2 (51971800: 51938023)     Exons: 13     NC_000015.10
• Gene summary(Entrez): LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 200
• OMIM: 603422

Protein Summary

• Protein general information: Q8WVC0  
  • Name: RNA polymerase associated protein LEO1 (Replicative senescence down regulated leo1 like protein)
  • Length: 666  
  • Mass: 75404
  • Tissue specificity: Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver. {ECO
• Sequence:

  MADMEDLFGSDADSEAERKDSDSGSDSDSDQENAASGSNASGSESDQDERGDSGQPSNKELFGDDSEDEGASHHS
  GSDNHSERSDNRSEASERSDHEDNDPSDVDQHSGSEAPNDDEDEGHRSDGGSHHSEAEGSEKAHSDDEKWGREDK
  SDQSDDEKIQNSDDEERAQGSDEDKLQNSDDDEKMQNTDDEERPQLSDDERQQLSEEEKANSDDERPVASDNDDE
  KQNSDDEEQPQLSDEEKMQNSDDERPQASDEEHRHSDDEEEQDHKSESARGSDSEDEVLRMKRKNAIASDSEADS
  DTEVPKDNSGTMDLFGGADDISSGSDGEDKPPTPGQPVDENGLPQDQQEEEPIPETRIEVEIPKVNTDLGNDLYF
  VKLPNFLSVEPRPFDPQYYEDEFEDEEMLDEEGRTRLKLKVENTIRWRIRRDEEGNEIKESNARIVKWSDGSMSL
  HLGNEVFDVYKAPLQGDHNHLFIRQGTGLQGQAVFKTKLTFRPHSTDSATHRKMTLSLADRCSKTQKIRILPMAG
  RDPECQRTEMIKKEEERLRASIRRESQQRRMREKQHQRGLSASYLEPDRYDEEEEGEESISLAAIKNRYKGGIRE
  ERARIYSSDSDEGSEEDKAQRLLKAKKLTSDEEGEPSGKRKAEDDDKANKKHKKYVISDEEEEDDD

• Structural information:
  • Interpro: IPR007149  
  • PDB: 4M6T 6GMH
  • PDBsum: 4M6T 6GMH
  • DIP: 37885
  • STRING: ENSP00000299601
• Other Databases: GeneCards:  LEO1  Malacards:  LEO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032968	positive regulation of transcription elongation from RNA polymerase II promoter	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:1990269	RNA polymerase II C-terminal domain phosphoserine binding	IBA	molecular function
GO:0045638	negative regulation of myeloid cell differentiation	IDA	biological process
GO:0019827	stem cell population maintenance	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0031442	positive regulation of mRNA 3'-end processing	IMP	biological process
GO:0001711	endodermal cell fate commitment	ISS	biological process
GO:0006378	mRNA polyadenylation	IMP	biological process
GO:0016570	histone modification	IEA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0016593	Cdc73/Paf1 complex	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0016567	protein ubiquitination	TAS	biological process
GO:1904837	beta-catenin-TCF complex assembly	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:0006366	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: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:0001711	endodermal cell fate commitment	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0033523	histone H2B ubiquitination	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881