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

Gene ID: 123169, updated on 11-May-2025
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
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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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. 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
  2. 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
  3. LEO1 is a partner for Cockayne syndrome protein B (CSB) in response to transcription-blocking DNA damage. Tiwari V, et al. Nucleic Acids Res, 2021 Jun 21. PMID 34096589, Free PMC Article
  4. Structural insights into Paf1 complex assembly and histone binding. Chu X, et al. Nucleic Acids Res, 2013 Dec. PMID 24038468, Free PMC Article
  5. 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

See all (99) 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

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

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2025-03-14)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2025-03-14)

ClinGen Genome Curation PagePubMed

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

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 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 stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in transcription elongation by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription elongation by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cdc73/Paf1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Cdc73/Paf1 complex IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
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

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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
    UniProtKB/TrEMBL
    B4DNM0

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

    Status: VALIDATED

    Source sequence(s)
    AC090971
    UniProtKB/TrEMBL
    B4DNM0

  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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