Human Gene LEO1 (ENST00000299601.10_7) from GENCODE V47lift37
  Description: LEO1 homolog, Paf1/RNA polymerase II complex component, transcript variant 1 (from RefSeq NM_138792.4)
Gencode Transcript: ENST00000299601.10_7
Gencode Gene: ENSG00000166477.13_9
Transcript (Including UTRs)
   Position: hg19 chr15:52,230,222-52,263,975 Size: 33,754 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr15:52,230,353-52,263,942 Size: 33,590 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:52,230,222-52,263,975)mRNA (may differ from genome)Protein (666 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LEO1_HUMAN
DESCRIPTION: RecName: Full=RNA polymerase-associated protein LEO1; AltName: Full=Replicative senescence down-regulated leo1-like protein;
FUNCTION: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of MLL1; it promotes leukemogenesis though association with MLL-rearranged oncoproteins, such as MLL-MLLT3/AF9 and MLL-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling.
SUBUNIT: Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with TCEA1, SUPT5H and CTNNB1.
INTERACTION: Q6P1J9:CDC73; NbExp=11; IntAct=EBI-932432, EBI-930143; P35222:CTNNB1; NbExp=2; IntAct=EBI-932432, EBI-491549; Q8N7H5:PAF1; NbExp=17; IntAct=EBI-932432, EBI-2607770; P23193:TCEA1; NbExp=4; IntAct=EBI-932432, EBI-2608271;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver.
SIMILARITY: Belongs to the LEO1 family.
SEQUENCE CAUTION: Sequence=BAB71006.1; Type=Frameshift; Positions=473;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.08 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 407.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.5033-0.076 Picture PostScript Text
3' UTR -20.00131-0.153 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007149 - Leo1

Pfam Domains:
PF04004 - Leo1-like protein

ModBase Predicted Comparative 3D Structure on Q8WVC0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding

Biological Process:
GO:0001711 endodermal cell fate commitment
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006378 mRNA polyadenylation
GO:0010390 histone monoubiquitination
GO:0016055 Wnt signaling pathway
GO:0016567 protein ubiquitination
GO:0016570 histone modification
GO:0019827 stem cell population maintenance
GO:0031442 positive regulation of mRNA 3'-end processing
GO:0032968 positive regulation of transcription elongation from RNA polymerase II promoter
GO:0033523 histone H2B ubiquitination
GO:0045638 negative regulation of myeloid cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1904837 beta-catenin-TCF complex assembly

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0016593 Cdc73/Paf1 complex


-  Descriptions from all associated GenBank mRNAs
  BC018147 - Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), mRNA (cDNA clone MGC:9690 IMAGE:3847809), complete cds.
AY302186 - Homo sapiens replicative senescence downregulated leo1-like protein mRNA, complete cds.
AK055762 - Homo sapiens cDNA FLJ31200 fis, clone KIDNE2000574, weakly similar to Staphylococcus epidermidis putative cell-surface adhesin SdrF gene.
AK297972 - Homo sapiens cDNA FLJ60738 complete cds, highly similar to RNA polymerase-associated protein LEO1.
KJ895376 - Synthetic construct Homo sapiens clone ccsbBroadEn_04770 LEO1 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WVC0 (Reactome details) participates in the following event(s):

R-HSA-3322424 Beta-catenin recruits CDC73 and LEO1
R-HSA-112379 Recruitment of elongation factors to form elongation complex
R-HSA-8942099 RNF20:RNF40 binds PAF complex, Ubiquitin:UBE2A,B (Ubiquitin:RAD6), WAC and Histone H2B
R-HSA-113429 Elongating transcript encounters a lesion in the template
R-HSA-112385 Addition of nucleotides leads to transcript elongation
R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing
R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates
R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest
R-HSA-112392 Resumption of elongation after recovery from pausing
R-HSA-113413 TFIIS-mediated recovery of elongation from arrest
R-HSA-112395 Abortive termination of elongation after arrest
R-HSA-112396 Separation of elongating transcript from template
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-8852135 Protein ubiquitination
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-195721 Signaling by WNT
R-HSA-597592 Post-translational protein modification
R-HSA-74160 Gene expression (Transcription)
R-HSA-162582 Signal Transduction
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000299601.1, ENST00000299601.2, ENST00000299601.3, ENST00000299601.4, ENST00000299601.5, ENST00000299601.6, ENST00000299601.7, ENST00000299601.8, ENST00000299601.9, LEO1_HUMAN, NM_138792, Q8WVC0, Q96N99, RDL, uc317mks.1, uc317mks.2
UCSC ID: ENST00000299601.10_7
RefSeq Accession: NM_138792.4
Protein: Q8WVC0 (aka LEO1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.