HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LEO1
LEO1 component of Paf1/RNA polymerase II complex
Chromosome 15 · 15q21.2
NCBI Gene: 123169Ensembl: ENSG00000166477.14HGNC: HGNC:30401UniProt: Q8WVC0
105PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusfibrillar centernucleoplasmneurodegenerative diseasedengue diseasemale infertility with azoospermia or oligozoospermia due to single gene mutationsmoking initiation
✦AI Summary

LEO1 is a conserved component of the PAF1 complex (PAF1C) that associates with RNA polymerase II to regulate transcription elongation and RNA processing 1. LEO1 phosphorylation by CDK12 is essential for PAF1C association with elongating Pol II, and this phosphorylation is counterregulated by the Integrator-PP2A complex (INTAC) 1. The protein functions in multiple transcriptional processes including Hox and Wnt gene transcription, histone modifications, and mRNA 3' end formation 2. Additionally, LEO1 controls H3K9 methylation levels and is required for proper entry into cellular quiescence and regulation of gene expression in human fibroblasts 3. LEO1 partners with Cockayne syndrome protein B (CSB) in transcription-coupled DNA repair, being recruited to DNA damage sites and facilitating recovery of RNA synthesis following transcription-blocking lesions 4. Clinically, LEO1 is emerging as a neurodevelopmental disorder risk gene, with de novo variants identified in autism and intellectual disability cases 56. The gene has also been implicated in male infertility, with pathogenic variants identified in spermatogenic failure 2. LEO1 contributes to acute myelogenous leukemia progression through PRL-3-mediated upregulation, promoting oncogenic properties 7.

Sources cited
1
CDK12-mediated LEO1 phosphorylation regulates PAF1C association with elongating Pol II and processive transcription elongation; INTAC complex dephosphorylates LEO1
PMID: 37205756
2
LEO1 variants linked to male infertility with primary spermatogenic failure; validated as candidate gene for SPGF
PMID: 38614076
3
LEO1 required for efficient entry into quiescence, control of H3K9me2 levels, and gene expression regulation in human fibroblasts
PMID: 38002344
4
LEO1 partners with CSB in transcription-coupled DNA repair response to transcription-blocking lesions; recruited to DNA damage sites
PMID: 34096589
5
LEO1 identified as neurodevelopmental disorder risk gene with excess de novo mutations; phenotype-genotype correlations established
PMID: 33004838
6
De novo LEO1 variants identified in autism and intellectual disability cases, adding evidence for LEO1 as NDD risk gene
PMID: 38965372
7
LEO1 mediates PRL-3 oncogenic properties in acute myelogenous leukemia; elevated in AML patient samples and positively associated with PRL-3
PMID: 24686170
8
LEO1 identified as novel FMRP-binding protein interacting partner involved in transcription and RNA metabolism networks
PMID: 32525608
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
dengue diseaseOpen Targets
0.37Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.27Weak
smoking initiationOpen Targets
0.13Weak
age-related hearing impairmentOpen Targets
0.13Weak
Myasthenia gravisOpen Targets
0.10Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
breast angiosarcomaOpen Targets
0.02Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
malariaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
insomniaOpen Targets
0.01Suggestive
acneOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_138792.4(LEO1):c.607C>T (p.Gln203Ter)Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation
★☆☆☆2023→ Residue 203
View on ClinVar ↗
Related Genes
CDK9Protein interaction100%MLLT1Protein interaction100%AFF1Protein interaction100%MLLT3Protein interaction100%PEX2Protein interaction100%TTF2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
74%
Bone Marrow
54%
Heart
51%
Ovary
46%
Lung
46%
Gene Interaction Network
Click a node to explore
LEO1CDK9MLLT1AFF1MLLT3PEX2TTF2
PROTEIN STRUCTURE
Preparing viewer…
PDB9HVQ · 2.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.32 [0.22–0.49]
RankingsWhere LEO1 stands among ~20K protein-coding genes
  • #4,536of 20,598
    Most Researched105 · top quartile
  • #4,866of 5,498
    Most Pathogenic Variants1
  • #2,869of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedLEO1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
PMID: 33004838
Nat Commun · 2020
1.00
2
Toward clinical exomes in diagnostics and management of male infertility.
PMID: 38614076
Am J Hum Genet · 2024
0.90
3
CDK12 and Integrator-PP2A complex modulates LEO1 phosphorylation for processive transcription elongation.
PMID: 37205756
Sci Adv · 2023
0.80
4
LEO1 Is Required for Efficient Entry into Quiescence, Control of H3K9 Methylation and Gene Expression in Human Fibroblasts.
PMID: 38002344
Biomolecules · 2023
0.70
5
Novel FMRP interaction networks linked to cellular stress.
PMID: 32525608
FEBS J · 2021
0.60