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    LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component [ Homo sapiens (human) ]

    Gene ID: 123169, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LEO1provided by HGNC
    Official Full Name
    LEO1 homolog, Paf1/RNA polymerase II complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:30401
    See related
    Ensembl:ENSG00000166477 MIM:610507; AllianceGenome:HGNC:30401
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RDL
    Summary
    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]
    Expression
    Ubiquitous expression in colon (RPKM 10.8), urinary bladder (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LEO1 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (51938025..51971778, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49745644..49779416, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (52230222..52263975, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene tropomodulin 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39679 Neighboring gene LEO1 homolog, Paf1/RNA polymerase II complex component pseudogene Neighboring gene uncharacterized LOC112268148 Neighboring gene RNA, U6 small nuclear 90, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9409 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:52239187-52239400 Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:52263092-52263668 and GRCh37_chr15:52263669-52264244 Neighboring gene mitogen-activated protein kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9412 Neighboring gene Sharpr-MPRA regulatory region 2333 Neighboring gene Sharpr-MPRA regulatory region 7002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:52317121-52317701 Neighboring gene MAPK6 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9416 Neighboring gene MPRA-validated peak2339 silencer Neighboring gene uncharacterized LOC112268150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9417 Neighboring gene uncharacterized LOC124903494

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. LEO1 Is Required for Efficient Entry into Quiescence, Control of H3K9 Methylation and Gene Expression in Human Fibroblasts. Laurent M, et al. Biomolecules, 2023 Nov 17. PMID 38002344, Free PMC Article
    2. Expression of the Leo1-like domain of replicative senescence down-regulated Leo1-like (RDL) protein promotes senescence of 2BS fibroblasts. Zhao L, et al. FASEB J, 2005 Apr. PMID 15791002
    3. LEO1 is regulated by PRL-3 and mediates its oncogenic properties in acute myelogenous leukemia. Chong PS, et al. Cancer Res, 2014 Jun 1. PMID 24686170
    4. Integrated genomic profiling identifies candidate genes implicated in glioma-genesis and a novel LEO1-SLC12A1 fusion gene. Bralten LB, et al. Genes Chromosomes Cancer, 2010 Jun. PMID 20196086
    5. CDK12 and Integrator-PP2A complex modulates LEO1 phosphorylation for processive transcription elongation. Qiu M, et al. Sci Adv, 2023 May 19. PMID 37205756, Free PMC Article

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LEO1 Is Required for Efficient Entry into Quiescence, Control of H3K9 Methylation and Gene Expression in Human Fibroblasts.
      Title: LEO1 Is Required for Efficient Entry into Quiescence, Control of H3K9 Methylation and Gene Expression in Human Fibroblasts.
    2. CDK12 and Integrator-PP2A complex modulates LEO1 phosphorylation for processive transcription elongation.
      Title: CDK12 and Integrator-PP2A complex modulates LEO1 phosphorylation for processive transcription elongation.
    3. LEO1 is a partner for Cockayne syndrome protein B (CSB) in response to transcription-blocking DNA damage.
      Title: LEO1 is a partner for Cockayne syndrome protein B (CSB) in response to transcription-blocking DNA damage.
    4. Here, we identified Leo1 as a direct and specific substrate of PRL-3. Serine-dephosphorylated form of Leo1 binds directly to beta-catenin, promoting the nuclear accumulation of beta-catenin and transactivation of TCF/LEF downstream target genes such as cyclin D1 and c-myc
      Title: Non-canonical activation of β-catenin by PRL-3 phosphatase in acute myeloid leukemia.
    5. PRL-3 and Leo1 levels were positively associated in AML patient samples.
      Title: LEO1 is regulated by PRL-3 and mediates its oncogenic properties in acute myelogenous leukemia.
    6. The results show that the Paf1/Leo1 heterodimer is necessary for its binding to histone H3, the histone octamer, and nucleosome in vitro.
      Title: Structural insights into Paf1 complex assembly and histone binding.
    7. Screened glioblastomas and oligodendrogliomas for fusion genes by identifying aberrant 5'-3' expression of genes that lie over regions of a copy number change. A fusion gene between exon 11 of LEO1 and exon 10 of SLC12A1 was identified.
      Title: Integrated genomic profiling identifies candidate genes implicated in glioma-genesis and a novel LEO1-SLC12A1 fusion gene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II C-terminal domain phosphoserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endodermal cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription elongation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stem cell population maintenance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription elongation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cdc73/Paf1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA polymerase-associated protein LEO1
    Names
    Leo1 Paf1/RNA polymerase II complex component
    Leo1, Paf1/RNA polymerase II complex component, homolog
    replicative senescence down-regulated leo1-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286430.2 → NP_001273359.1  RNA polymerase-associated protein LEO1 isoform 2

      See identical proteins and their annotated locations for NP_001273359.1

      Status: VALIDATED

      Source sequence(s)
      AC090971, AK055762, BC018147
      Consensus CDS
      CCDS66767.1
      UniProtKB/TrEMBL
      B4DNM0
      Related
      ENSP00000314610.5, ENST00000315141.5
      Conserved Domains (2) summary
      PHA02664
      Location:31 → 168
      PHA02664; hypothetical protein; Provisional
      pfam04004
      Location:387 → 472
      Leo1; Leo1-like protein

    2. NM_001323903.2 → NP_001310832.1  RNA polymerase-associated protein LEO1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC090971
      UniProtKB/TrEMBL
      B4DNM0

    3. NM_001323904.2 → NP_001310833.1  RNA polymerase-associated protein LEO1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC090971
      UniProtKB/TrEMBL
      B4DNM0

    4. NM_001426597.1 → NP_001413526.1  RNA polymerase-associated protein LEO1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC090971

    5. NM_001426598.1 → NP_001413527.1  RNA polymerase-associated protein LEO1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC090971

    6. NM_138792.4 → NP_620147.1  RNA polymerase-associated protein LEO1 isoform 1

      See identical proteins and their annotated locations for NP_620147.1

      Status: VALIDATED

      Source sequence(s)
      AC090971, BC018147
      Consensus CDS
      CCDS10146.1
      UniProtKB/Swiss-Prot
      Q8WVC0, Q96N99
      UniProtKB/TrEMBL
      B4DNM0
      Related
      ENSP00000299601.5, ENST00000299601.10
      Conserved Domains (2) summary
      pfam04004
      Location:374 → 536
      Leo1; Leo1-like protein
      NF033609
      Location:9 → 361
      MSCRAMM_ClfA; MSCRAMM family adhesin clumping factor ClfA

    RNA

    1. NR_189743.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068263

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      51938025..51971778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      49745644..49779416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVC0.1 GenPept UniProtKB/Swiss-Prot:Q8WVC0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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