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Aliases for LEO1 Gene

Aliases for LEO1 Gene

  • LEO1 Homolog, Paf1/RNA Polymerase II Complex Component 2 3 5
  • Replicative Senescence Down-Regulated Leo1-Like Protein 3 4
  • RDL 3 4
  • Leo1, Paf1/RNA Polymerase II Complex Component, Homolog (S. Cerevisiae) 2
  • Leo1, Paf1/RNA Polymerase II Complex Component, Homolog 3
  • Leo1 Paf1/RNA Polymerase II Complex Component 3
  • RNA Polymerase-Associated Protein LEO1 3

External Ids for LEO1 Gene

Previous GeneCards Identifiers for LEO1 Gene

  • GC15M050018
  • GC15M052230
  • GC15M029060
  • GC15M052414
  • GC15M052684
  • GC15M054184
  • GC15M054933
  • GC15M055374
  • GC15M055821
  • GC15M056258

Summaries for LEO1 Gene

Entrez Gene Summary for LEO1 Gene

  • 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., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

GeneCards Summary for LEO1 Gene

LEO1 (LEO1 Homolog, Paf1/RNA Polymerase II Complex Component) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Gene Expression.

UniProtKB/Swiss-Prot for LEO1 Gene

  • 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 KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-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.

Gene Wiki entry for LEO1 Gene

Additional gene information for LEO1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEO1 Gene

Genomics for LEO1 Gene

GeneHancer (GH) Regulatory Elements for LEO1 Gene

Promoters and enhancers for LEO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I051969 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 488 3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LEO1 ENSG00000259935 LYSMD2 ENSG00000260618 ENSG00000259712 MAPK6
GH15I051972 Enhancer 0.5 ENCODE 550.8 -1.4 -1395 0.8 SMARCE1 SRF PKNOX1 GATA3 RCOR2 FOS LEO1 LYSMD2 MAPK6 GC15P052002
GH15I052178 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.4 -208.0 -208027 2.8 ATF1 ARID4B SIN3A YY1 GLIS2 ELK1 ZNF143 ATF7 SP3 SP5 CERNA1 GNB5 LEO1 ENSG00000259709 TMOD3 ENSG00000206995
GH15I052005 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -35.9 -35911 4.3 HDGF PKNOX1 FOXA2 MLX ARID4B IRF4 ZNF207 FOS SP5 JUNB GNB5 LEO1 MIR4713HG GC15P052002 ENSG00000274528 MAPK6
GH15I052092 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -122.9 -122872 4.2 PKNOX1 NEUROD1 SIN3A RAD21 BRCA1 ZBTB40 RFX5 FOS RCOR1 ELK4 GC15P052096 RPS13P8 MAPK6 LEO1 GNB5 ENSG00000259178 LYSMD2 ENSG00000259709 MYO5C DMXL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LEO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LEO1 gene promoter:

Genomic Locations for LEO1 Gene

Genomic Locations for LEO1 Gene
chr15:51,938,025-51,971,806
(GRCh38/hg38)
Size:
33,782 bases
Orientation:
Minus strand
chr15:52,230,222-52,264,003
(GRCh37/hg19)

Genomic View for LEO1 Gene

Genes around LEO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEO1 Gene

Proteins for LEO1 Gene

  • Protein details for LEO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVC0-LEO1_HUMAN
    Recommended name:
    RNA polymerase-associated protein LEO1
    Protein Accession:
    Q8WVC0
    Secondary Accessions:
    • Q96N99

    Protein attributes for LEO1 Gene

    Size:
    666 amino acids
    Molecular mass:
    75404 Da
    Quaternary structure:
    • Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61 (PubMed:15632063, PubMed:19952111, PubMed:20178742). The PAF1 complex interacts with PHF5A (By similarity). Interacts with TCEA1, SUPT5H and CTNNB1 (PubMed:16630820, PubMed:19952111, PubMed:20178742). Interacts with SETD5 (By similarity).
    SequenceCaution:
    • Sequence=BAB71006.1; Type=Frameshift; Positions=473; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LEO1 Gene

    Alternative splice isoforms for LEO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LEO1 Gene

Post-translational modifications for LEO1 Gene

  • Ubiquitination at posLast=486486
  • Modification sites at PhosphoSitePlus

Other Protein References for LEO1 Gene

No data available for DME Specific Peptides for LEO1 Gene

Domains & Families for LEO1 Gene

Gene Families for LEO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LEO1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LEO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVC0

UniProtKB/Swiss-Prot:

LEO1_HUMAN :
  • Belongs to the LEO1 family.
Family:
  • Belongs to the LEO1 family.
genes like me logo Genes that share domains with LEO1: view

Function for LEO1 Gene

Molecular function for LEO1 Gene

UniProtKB/Swiss-Prot 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 KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-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.

Gene Ontology (GO) - Molecular Function for LEO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15923622
GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding IBA --
genes like me logo Genes that share ontologies with LEO1: view
genes like me logo Genes that share phenotypes with LEO1: view

Animal Models for LEO1 Gene

MGI Knock Outs for LEO1:
  • Leo1 tm1a(EUCOMM)Wtsi

Clone Products

  • Addgene plasmids for LEO1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for LEO1 Gene

Localization for LEO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEO1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEO1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LEO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005813 centrosome IDA --
GO:0016593 Cdc73/Paf1 complex IDA 16307923
genes like me logo Genes that share ontologies with LEO1: view

Pathways & Interactions for LEO1 Gene

genes like me logo Genes that share pathways with LEO1: view

Gene Ontology (GO) - Biological Process for LEO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001711 endodermal cell fate commitment ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with LEO1: view

No data available for SIGNOR curated interactions for LEO1 Gene

Drugs & Compounds for LEO1 Gene

(6) Drugs for LEO1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for LEO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LEO1: view

Transcripts for LEO1 Gene

Unigene Clusters for LEO1 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae):
Representative Sequences:

Clone Products

  • Addgene plasmids for LEO1

Alternative Splicing Database (ASD) splice patterns (SP) for LEO1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP2: - - -
SP3:

Relevant External Links for LEO1 Gene

GeneLoc Exon Structure for
LEO1
ECgene alternative splicing isoforms for
LEO1

Expression for LEO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LEO1 Gene

Protein differential expression in normal tissues from HIPED for LEO1 Gene

This gene is overexpressed in Breast (29.3) and Lung (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LEO1 Gene



Protein tissue co-expression partners for LEO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LEO1 Gene:

LEO1

SOURCE GeneReport for Unigene cluster for LEO1 Gene:

Hs.567662

mRNA Expression by UniProt/SwissProt for LEO1 Gene:

Q8WVC0-LEO1_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver.

Evidence on tissue expression from TISSUES for LEO1 Gene

  • Kidney(4.3)
  • Liver(4.3)
  • Intestine(4.2)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with LEO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEO1 Gene

Orthologs for LEO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LEO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEO1 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LEO1 33 34
  • 94.06 (n)
cow
(Bos Taurus)
Mammalia LEO1 33 34
  • 93.23 (n)
oppossum
(Monodelphis domestica)
Mammalia LEO1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Leo1 33 16 34
  • 86.93 (n)
rat
(Rattus norvegicus)
Mammalia Leo1 33
  • 86.37 (n)
chicken
(Gallus gallus)
Aves LEO1 33 34
  • 78.52 (n)
lizard
(Anolis carolinensis)
Reptilia LEO1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia leo1 33
  • 74.77 (n)
Str.6732 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24216 33
zebrafish
(Danio rerio)
Actinopterygii leo1 33 34
  • 64.15 (n)
Dr.11557 33
fruit fly
(Drosophila melanogaster)
Insecta Atu 34
  • 34 (a)
OneToMany
CG10887 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0035.11 34
  • 39 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LEO1 34 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
Species where no ortholog for LEO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LEO1 Gene

ENSEMBL:
Gene Tree for LEO1 (if available)
TreeFam:
Gene Tree for LEO1 (if available)

Paralogs for LEO1 Gene

Pseudogenes.org Pseudogenes for LEO1 Gene

genes like me logo Genes that share paralogs with LEO1: view

No data available for Paralogs for LEO1 Gene

Variants for LEO1 Gene

Sequence variations from dbSNP and Humsavar for LEO1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000045780 -- 51,966,784(-) G/T intron_variant
rs1000060306 -- 51,967,174(-) T/A intron_variant
rs1000288774 -- 51,943,527(-) C/G intron_variant
rs1000494044 -- 51,953,548(-) A/G intron_variant
rs1000568213 -- 51,958,493(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LEO1 Gene

Variant ID Type Subtype PubMed ID
dgv2595n100 CNV gain 25217958
esv3581702 CNV loss 25503493
nsv1053788 CNV gain 25217958
nsv569409 CNV loss 21841781
nsv569410 CNV loss 21841781

Variation tolerance for LEO1 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEO1 Gene

Disorders for LEO1 Gene

Additional Disease Information for LEO1

No disorders were found for LEO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LEO1 Gene

Publications for LEO1 Gene

  1. Expression of the Leo1-like domain of replicative senescence down-regulated Leo1-like (RDL) protein promotes senescence of 2BS fibroblasts. (PMID: 15791002) Zhao L … Zhang Z (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005) 3 4 22 58
  2. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PMID: 15632063) Rozenblatt-Rosen O … Meyerson M (Molecular and cellular biology 2005) 2 3 4 58
  3. Structural insights into Paf1 complex assembly and histone binding. (PMID: 24038468) Chu X … Long J (Nucleic acids research 2013) 2 3 58
  4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 3 4 58
  5. The human PAF1 complex acts in chromatin transcription elongation both independently and cooperatively with SII/TFIIS. (PMID: 20178742) Kim J … Roeder RG (Cell 2010) 3 4 58

Products for LEO1 Gene

  • Addgene plasmids for LEO1

Sources for LEO1 Gene

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